Symptoms of gardner's syndrome, methods of treatment and life expectancy. X-linked infantile agammaglobulinemia

is a hereditary disease accompanied by polyposis of the large intestine in combination with benign neoplasia of the skin, bones and soft tissues. May be asymptomatic for a long time. Bloating, rumbling and stool disorders are possible. In some cases, intestinal polyposis is complicated by bleeding or intestinal obstruction. There is a high risk of developing colorectal cancer. The disease is diagnosed on the basis of complaints, family history, examination data, radiography, CT, MRI, ultrasound, endoscopy and other studies. Treatment - endoscopic polypectomy or resection of the affected parts of the intestine.

ICD-10

D12.6 Colon, part unspecified

General information

Gardner's syndrome is a rare genetically determined pathology in which diffuse polyposis of the large intestine is observed in combination with benign tumors of bones and soft tissues (osteomas, fibromas, neurofibromas, epithelial cysts and other neoplasias). Polyposis in Gardner's syndrome mainly affects the rectus and sigmoid colon however, polyps may be found elsewhere in the intestine. It was first described by the American physician and geneticist E. J. Gardner in 1951. Since then, more than 100 cases have been reported in the specialized literature. this disease. The risk of malignancy of colon polyps with the development of colorectal cancer during life is about 95%. Treatment is carried out by specialists in the field of clinical proctology, gastroenterology, oncology, orthopedics, dentistry and maxillofacial surgery.

The reasons

Gardner's syndrome is transmitted in an autosomal dominant manner. The severity of intestinal and extraintestinal clinical manifestations can vary greatly. The first symptoms of Gardner's syndrome usually appear in children older than 10 years. Perhaps a late onset with the formation of the first tumors over the age of 20 years. In some cases, along with polyposis of the large intestine, osteomas and soft tissue neoplasms, polyps are found in patients with Gardner's syndrome. small intestine, stomach and duodenum.

Symptoms

Gardner's syndrome includes a characteristic triad: diffuse polyposis of the lower parts of the large intestine, osteomas of flat and tubular bones, various benign tumors of the skin and soft tissues. With a moderate number and small size of polyps, intestinal manifestations of Gardner's syndrome may be absent or mild. In adolescence or youth, patients usually first turn to doctors in connection with the appearance of benign bone and soft tissue tumors.

Osteomas in Gardner's syndrome can be localized both in flat and tubular bones. Often there is a lesion of the bones of the facial skull, accompanied by disfigurement. There may be displacement and even loss of teeth. Some time after the appearance of the growth of osteomas in patients with Gardner's syndrome, the tumors do not become malignant. Soft tissue neoplasias are very diverse. Lipomas, dermatofibromas, neurofibromas, and epithelial cysts are especially common. Atheromas, leiomyomas and other neoplasms are less common. Soft tissue tumors in Gardner's syndrome also proceed benignly, malignancy is absent.

Colon polyps in Gardner's syndrome often become an accidental finding during gastrointestinal studies for other reasons or are detected during an extended examination prescribed in connection with the appearance of multiple soft tissue and bone neoplasia. During Gardner's syndrome, three stages of intestinal damage can be distinguished. At the first stage, the disease is asymptomatic. On the second, patients note abdominal discomfort, bloating, rumbling, and periodic stool disturbances. In the feces, impurities of blood and mucus can be detected.

At the third stage, patients with Gardner's syndrome have a pronounced pain syndrome, constant flatulence, abundant impurities of mucus and blood in the stool, weight loss, fatigue, emotional lability, electrolyte and protein metabolism disorders. Many patients with Gardner's syndrome develop anemia due to small but often recurring bleeding from the lower GI tract. In some cases, patients develop emergency conditions requiring emergency medical care- profuse intestinal bleeding or intestinal obstruction.

Diagnostics

The diagnosis is established on the basis of a family history (the presence of Gardner's syndrome in close relatives), a clinical picture that includes a characteristic triad, and data from additional studies. When conducting a physical examination, the doctor notes the presence of multiple bone and soft tissue tumors of various localization. Some patients with Gardner's syndrome have facial deformities caused by osteomas of the facial skull. On palpation of the bones of the trunk and extremities, tumor-like formations of bone density can be detected. With mild lesions, the number of neoplasias may be insignificant, making diagnosis difficult.

On palpation of the abdomen, there is pain in the left iliac region. In the first stage of intestinal damage this symptom may be missing. When conducting a digital rectal examination on the rectal mucosa of patients with Gardner's syndrome, multiple nodes are found. On contrast x-rays, such nodes appear as filling defects. With nodes of a small size (less than 1 cm), the information content of a contrast X-ray study is reduced. During sigmoidoscopy, polyps are detected in the rectum and colon. The number of polyps can vary greatly.

Some patients with Gardner's syndrome have limited lesions of certain parts of the intestine. Unlike radiography, endoscopic examination makes it possible to diagnose polyps of any size, including small ones (with a diameter of 1-2 mm). To clarify the nature and prevalence of bone tumors in Gardner's syndrome, x-rays are performed. With soft tissue neoplasms, CT, MRI or ultrasound of the affected area is prescribed. If necessary, perform a biopsy of polyps, osteomas and soft tissue neoplasms.

Differential diagnosis of Gardner's syndrome is carried out by proctologists with the usual multiple polyps and other forms of familial polyposis. For different options hereditary polyposis is characterized by certain differences in the predominant localization of polyps (damage to the entire large intestine, damage to the distal colon), the nature pathological changes bones and soft tissues. To clarify these differences, before making a final diagnosis, a detailed external examination is carried out, either by the formation of an ileorectal anastomosis (in the absence of rectal polyps). Surgical intervention recommended at the age of 20-25 years. Due to the mutilating nature of the operation, young patients with Gardner's syndrome often refuse this intervention. In such cases, dynamic observation is shown with a colonoscopy every 6-8 months.

Some physicians are advocates of expectant management and believe that colectomy for Gardner's syndrome should be performed only when signs of malignancy appear or if there is frequent bleeding with the development of anemia. Indications for emergency surgical intervention in Gardner's syndrome are profuse intestinal bleeding and intestinal obstruction.

Forecast and prevention

With timely adequate treatment, the prognosis for Gardner's syndrome is quite favorable. The severity of the course is determined by the severity of polyposis and the localization of extraintestinal tumors. Parents who have relatives suffering from this disease are advised to seek medical genetic counseling during pregnancy planning.

Gardner's syndrome is an autosomal dominant syndrome of adenomatous polyposis of the colon that is associated with osteomas and skin lesions. Osteomas often precede any other symptoms, including those due to colonic polyposis, and thus may serve as a marker of the latter.

Named simple ways improve the intestines / News from 02/10/2019 03:42

Gardner's syndrome is classified as a "perfectly precancerous" disease with a 70 to 90% risk of developing cancer.

Early Assessment of Gardner's Syndrome

The association of colon polyps with colon cancer in almost 100% of patients with Gardner's syndrome makes it important to screen patients with osteomas for the syndrome and thus potentially save their lives. Consideration of this diagnosis means that the gastric mucosa, thyroid gland, retinal epithelium, skull and teeth, and skin should be evaluated for epidermoid cysts, desmoid tumors, congenital retinal pigment epithelium hypertrophy, etc. The classic site of osteoma formation is the mandible, especially at the angle of the jaw, but these tumors can also form on the skull, paranasal sinuses and long bones. A CT scan can help show their location and size. Most often, polyps are found to cover the entire surface of the colon, but sometimes they can occur in the lining of the stomach and small intestine. They usually first appear after puberty, but the first symptoms appear most often by the age of 40.

Detection of other tumors

Screening for papillary cancer thyroid gland, adrenal adenomas and adenocarcinomas, hepatocellular carcinoma, osteosarcoma and chondrosarcoma, and other thyroid and liver tumors are also an important part of the initial evaluation.

Prevention of colon cancer

Reconstructive proctocolectomy with anal ileal anastomosis is recommended along with mucosectomy because the entire colonic mucosa is resected to prevent polyp formation while preserving bowel function and providing sexual satisfaction. By avoiding the need for a colostomy, the patient can avoid many psychological and physical disorders. An ileostomy is temporarily inserted to allow proper healing of the rectal colon.

When gastric polyps are found in association with Gardner's syndrome, the incidence and rate of carcinogenesis in such cases is lower than in colorectal polyposis. Thus, a more conservative approach, such as a small polypectomy, may give good results.

(syn.: Bruton's agammaglobulinemia, congenital agammaglobulinemia). It only affects men. Type of inheritance X-linked recessive. The gene is localized on the X chromosome, in the region q21.3-q22. The disease is based on the absence of B-lymphocytes, the absence or a sharp decrease in the content of the main classes of serum immunoglobulins.

Minimum diagnostic signs of X-linked infantile agammaglobulinemia: recurrent severe bacterial infections caused by an inability to produce functional antibodies. The respiratory tract, gastrointestinal tract and skin are affected.

Clinically X-linked infantile agammaglobulinemia characterized by severe inflammatory processes, most often otitis media, conjunctivitis, sinusitis, enteritis, recurrent infections of the upper respiratory tract, bronchitis, pneumonia, pyoderma, caused mainly by staphylococci, pneumococci, streptococci. Hepatitis is very severe and can lead to death. Polyarthritis and dermatomyositis are possible. Often the condition is complicated by sepsis.

Patients with X-linked infantile agammaglobulinemia pale, inactive, on the skin of the face, trunk, extremities - foci of pyoderma. Anemia, leukopenia, neutropenia, transient eosinophilia are found in the peripheral blood. B-lymphocytes in the blood, lymphoid tissue, bone marrow are absent or their number is sharply reduced, as well as the number of plasma cells. The level of immunoglobulins is sharply reduced: IgM and TgA are absent, the level of IgG. normal at birth, significantly reduced by 6 months.

Immunization does not positive results, isohemagglutinins are absent. With agammaglobulinemia X-linked infantile there is a high mortality in early age. In 5% of patients at a later age, malignant lymphoproliferative diseases develop: leukemias or lymphomas.

Differential diagnosis is carried out with Castleman's agranulocytosis, secondary immunodeficiency states.

Severe combined immunodeficiencies(SCID) are described in a group of diseases accompanied by defects in humoral and cellular immunity. They are characterized by an autosomal recessive or X-linked recessive pattern of inheritance.

X-linked infantile agammaglobulinemia manifested by indomitable diarrhea, pneumonia and various infections, primarily candidiasis. Pyoderma lesions often develop during the first few months of life, leaving hyperpigmented patches after they heal. Almost 5% of patients have malignant lymphoproliferative diseases.

Skin diseases associated with intestinal polyposis

A number of hereditary skin syndromes associated with tumors of the gastrointestinal tract. In this case, malignant neoplasms, as a rule, develop as a result of malignancy of polyps. The most well-known diseases are Gardner's syndrome, Peutz-Jeghers syndrome, Cowden's disease. Muir-Torre syndrome, Howell-Evans syndrome, type III multiple endocrine neoplasia.

Gardner syndrome

Gardner syndrome- a hereditary symptom complex, including various skin and bone manifestations in combination with precancerous intestinal polyposis of the colon. Type of inheritance - autosomal dominant with varying degrees expressivity of a gene located on chromosome 5. The first constant sign syndrome, manifested at the age of 4 to 10 years (rarely later), - epidermal and sebaceous glandular cysts, desmoid tumors, fibromas, lipomas, trichoepitheliomas, keratoacanthoma, leiomyomas, especially on the skin of the face, less often - on the scalp, extremities, chest. Osteomas develop mainly in the jaw and sphenoid bones (in 50% of cases), their size is small, tumors are often multiple.

Glandular polyps in Gardner's syndrome various parts of the colon or only the rectum develop in the 3rd-4th decade of life and may remain asymptomatic until they become malignant. Histologically, foci of malignant transformation are detected in 100% of polyps, but clinically it can be suspected in 50-100% of patients. In almost 50% of cases, polyposis of the stomach and small intestine, in particular the duodenum, is noted.

Sometimes with Gardner's syndrome fibrosarcoma, leiomyoma of the stomach or intestines are observed. Tumors of the thyroid gland, ovaries, adrenal glands, liver, melanoma are also described.

Dermal manifestations of Gardner's syndrome usually develop long before intestinal polyposis, thereby facilitating its recognition.

Diagnosis of Gardner's Syndrome based on clinical data and results special methods studies of the digestive tract - repeated colonoscopies. Congenital hypertrophic retinal pigmentation also has diagnostic significance.

Differential diagnosis of Gardner's syndrome carried out with Cowden's disease, Peutz-Jeghers, Kronkheim-Canada, Muir-Torre syndromes.

Treatment of Gardner's syndrome consists in the early prophylactic removal of colon polyps.

Peutz-Jeghers Syndrome

Peutz-Jeghers Syndrome(syn.: periorificial lentiginosis) - a disease manifested by pigment spots, accompanied by hamartomas of the gastrointestinal, respiratory and genitourinary tracts. Men and women get sick equally often. The type of inheritance is autosomal dominant. The locus of the gene is unknown. Probably, the disease is caused by a mutation of one pleiotropic gene. May present in childhood, but changes most often occur in adolescence or early adulthood. Malignant tumors in Peutz-Jeghers syndrome occur at an early age, their frequency is 44-48%.

Most patients (95%) Peutz-Jeghers syndrome have characteristic dark spots(lentigo, freckles) dark brown, round or oval in shape, with a diameter of 2 to 5 mm on the lips (especially on the lower) or mucous membrane of the cheeks, as well as around the mouth and on the bridge of the nose, in the area anus, less often on the hands and feet, palms, soles, in the popliteal fossae. Pigmentary papillomas of the oral mucosa are also described. Sometimes there is hair loss. Pigmentation lesions may be congenital, appear in infancy or childhood, and fade over time, although mucosal pigmentation persists.

Histologically in Peutz-Jeghers syndrome in the epidermis, an increase in the number of melanocytes in the basal layer is found, in the dermis - an accumulation of melanophores.

Hamartomas in Peutz-Jeghers syndrome develop in the small intestine, although they can occur in any part of the gastrointestinal tract, as well as in the biliary tract, respiratory and genitourinary tracts. They are present in the vast majority of patients and are polypoid formations of small rounded shape with a smooth surface, accompanied by bouts of abdominal pain and gastrointestinal bleeding. Histologically, polyps have the structure of a benign adenoma, in 20-25% of cases they undergo malignancy. However malignant tumors gastrointestinal tract are found in this syndrome only in 2-12% of cases. Neoplasms located outside the gastrointestinal tract are much more often observed: malignant tumors of the genital organs (ovaries, testicles), lung and breast cancer, etc.

Peutz-Jeghers Syndrome Diagnosis established on the basis of the clinical picture and results histological examination. For the purpose of early detection of polyposis, X-ray and endoscopic examination of patients is carried out.

Differential diagnosis of Peutz-Jeghers syndrome carried out with freckles, senile lentigo, LEOPARD syndrome, hereditary forms of lentiginosis, especially systemic, as well as with mastocytosis.

Peutz-Jeghers Syndrome often ends in death due to untimely recognized malignant neoplasms of internal organs.

Treatment of Peutz-Jeghers Syndrome lip pigmentation is carried out with laser irradiation. Polyps larger than 1.5 cm in diameter, as well as bleeding polyps, are surgically removed. Every 1-3 years the patient should be examined by a gastroenterologist and a surgeon. Sometimes a prophylactic colectomy is indicated.

Gardner's syndrome is a hereditary disease in which both benign neoplasms of bone and soft tissues develop at the same time.

With this pathology, violations of the large intestine can be quite long time not manifest itself, and patients are diagnosed with only visible tumors, unaware of the presence of colonic polyposis.

Gardner's syndrome was studied and described relatively recently - in the middle of the 20th century. Polyps most often affect the rectum and sigmoid colon, but in general they can grow in all parts of the large intestine.

Table of contents:

The reasons

Gardner's syndrome is a congenital, genetically determined pathology.. Its main manifestation is the diffuse growth of polyps on the inner surface of the large intestine, which is combined with the appearance of benign neoplasms of the bone skeleton and soft tissues:

osteomas - bone tumors;
fibromas - neoplasms that have grown from connective tissue;
neurofibromas - tumors that have developed from the sheath of nerve structures;
epithelial cysts - cavity formations with a wall of the epidermis

and some other tumors.

Pathology develops according to an autosomal dominant type - this means that of the two genes responsible for the development of tissues, a mutation of one of them is enough for the disorder to manifest itself in the form congenital pathology. From a practical point of view, with this type of transmission, the following is important:

Development of the disease

In the classic version, Gardner's syndrome manifests itself as a triad - three pathologies that develop simultaneously. It:

diffuse (common) polyposis of the large intestine - mainly lower, or distal (that is, closer to the anus);
osteomas of tubular and flat bones;
various benign neoplasms of soft tissues.

The morphological severity of Gardner's syndrome varies greatly: in some patients, only a few polyps in the large intestine and many benign neoplasms in bone or soft tissues are found, in others, on the contrary, the entire large intestine can be literally littered with polyposis outgrowths, and in soft tissues it is difficult to diagnose 1 -2 inconspicuous tumors that do not progress for many years and remain in the same condition.

Also, the variability of Gardner's syndrome can manifest itself in the fact that in some cases in such patients, in addition to colonic polyposis, bone and soft tissue tumors, polyposis growths can be detected:

12 duodenal ulcer;
jejunum.

note

Polyps of the large intestine in Gardner's syndrome can develop slowly, which is why they do not manifest themselves clinically for a long time, therefore they are often an accidental finding during a diagnostic examination.

Osteomas in the development of Gardner's syndrome affect the bones with almost the same frequency:

flat - these are the bones of the cranial vault (form upper wall containers for the brain), pelvic bones, sternum, shoulder blades, ribs;
tubular - these are the femoral, tibial and peroneal, brachial, ulnar, radial, metacarpal and metatarsals, phalanges of fingers.

In most cases, after the appearance and increase in size, osteomas formed in Gardner's syndrome stop growing further, and they do not become malignant.

Types of tumors that affect soft tissues with Gardner's syndrome, more. Most often, with Gardner's syndrome, soft tissue tumors develop, such as:

lipomas - develop from adipose tissue;
dermatofibroma - formed from connective tissue and epithelial skin cells;
neurofibromas - are formed from the shells of nerve endings;
epithelial cysts - are formed from the epidermis, which is the surface layer of the skin (most often from hair follicles).

Less commonly diagnosed

atheromas - cysts sebaceous glands, formed due to blockage of their duct and, as a result, a violation of the outflow of secret from them;
Leiomyomas are benign smooth muscle tumors.

All these tumors of soft tissues in the development of Gardner's syndrome, as well as bone tumors, are characterized by benign growth, their malignant degeneration is not observed.

Diagnosis and treatment of this disease require close attention: the risk of malignant degeneration of colon polyps and formation in such patients is about 95%.

The treatment of patients with this pathology requires an integrated approach - it is done by gastroenterologists, proctologists, abdominal surgeons, oncologists, orthopedic traumatologists, dentists and maxillofacial surgeons.

Symptoms of Gardner's Syndrome

Since morphologically Gardner's syndrome varies greatly (that is, it can manifest itself in various variants and combinations of colon polyps and bone and soft tissue tumors), this means that the clinical picture of this pathology, which consists of intestinal and extraintestinal manifestations, can also vary greatly.

In most cases, the first clinical signs of Gardner's syndrome appear in childhood- over 10 years old. Most often, the very first reason to see a doctor is the appearance benign tumors bone structures and soft tissues. They grow quite slowly, so often for the first time they go to the doctor in adolescence, less often - youthful. Although in some cases there may be a late onset, and the first tumors are formed over the age of 20 years.

Intestinal symptoms

During Gardner's syndrome, three stages of its damage are distinguished from the large intestine:

the first is easy;
the second is of moderate severity;
the third is heavy.

At the first stage, Gardner's syndrome is asymptomatic, since there are few polyps and they grow slowly. Sometimes the clinical picture is still present. At the same time, it manifests itself with slight discomfort in the abdomen - but in general, the clinic is rather weakly expressed, therefore it does not attract the attention of patients.

Symptoms that appear at the second stage of development of the described pathology are:

abdominal discomfort;
dyspeptic phenomena;
stool changes.

Dyspeptic disorders are:

(violation of the discharge of gases and bloating);
recurrent violation of the stool in the form of or, as well as alternating constipation and diarrhea;
rumbling in the abdomen - it is associated with hyperperistalsis (increased intestinal activity).

Changes in the feces are manifested in the form of constantly appearing in it - such as:

blood;
slime.

Purulent discharge in the feces rarely appears - only in the case of activation of pathogenic microflora and the occurrence of superficial purulent-inflammatory lesions of the colonic wall.

At the third stage, in patients with Gardner's syndrome, a pronounced clinical picture appears on the part of the large intestine:

flatulence (delayed discharge of gases and bloating);
pathological;
quite pronounced violations on the part of general condition organism.

Pain characteristics:

by localization - in the zone of polyp formation;
by distribution - mainly throughout the abdomen;
by nature - aching-pressing;
by intensity - pronounced, annoying, with a significant progression of the pathology - intolerable;
by occurrence - since polyps are often characterized by slow but persistent growth, the pain syndrome manifests itself first in the form of discomfort, then periodically appearing pains, which become more frequent over time and at the peak of the development of the disease become regular, and then permanent.

Flatulence develops due to the fact that:

long polyps, when moving, irritate the inner surface of the colonic wall, provoking failures in its peristaltic movements;
the number of polyps can reach a critical level, they are dotted with most of the inner surface of the colonic wall, which is why it cannot contract normally.

The amount of pathological impurities in the form of mucus and blood in the feces increases significantly in comparison with the second stage of Gardner's syndrome.

Violations from the general condition of the body are manifested by such signs as:

increasing deterioration in appetite;
slow but progressive weight loss;
increased fatigue, due to which the patient is not able to overcome the usual amount of work, during which there were no problems before;
emotional lability - periods of bad mood are replaced by a manifestation of good mood, the patient can both get upset over trifles and enjoy the little things in life;
signs that develops due to frequently recurring bleeding from polyp tissues. This is the pallor of the skin and visible mucous membranes, almost constant weakness, fatigue, periodic, flickering, tingling sensation in the soft tissues of the upper and lower extremities, with the progression of anemia - , .

Tumor symptoms

Clinical symptoms with the appearance of bone and soft tissue tumors depend on whether they interfere with the functions of the organs in which they arose or neighboring organs.

In most cases, benign soft tissue tumors develop slowly, so they do not cause physiological inconvenience. The following cases are an exception:

Indicative is the defeat of osteomas of the bones of the facial skull - often it is accompanied by:

his disfigurement;
displacement of teeth;
with further progression of the pathology - their loss.

Diagnosis of Gardner's syndrome

The presence of Gardner's syndrome in a patient can be suspected:

according to the identified triad - the presence of polyposis outgrowths of the large intestine, benign tumors of bone and soft tissues;
on the basis of a family history (medical history) - in particular, if the patient's close relatives have the above described symptoms.

To detect polyposis of the large intestine and benign tumors, you will need to involve additional methods diagnostics - physical, instrumental, laboratory.

The physical examination data will be as follows:

on examination, the presence of multiple neoplasms is revealed, which are manifested by the fact that they deform soft tissues. Visually, osteomas that are close to the skin (neoplasms of the bones of the skull and limbs), as well as superficially located atheromas, leiomyomas, and so on, can be determined visually. In the presence of osteomas of the facial skull, its deformation often develops;
on palpation (palpation) of the tissues of the limbs, skull and torso, neoplasms of bones and more deeply located soft tissues are detected. Tumors are small, their detection is difficult and requires careful probing of large volumes of soft tissues;
on palpation of the abdomen - there is pain in the zone of development of polyps;
with percussion (tapping) of the abdomen - in the case of flatulence over the intestines, a ringing sound is determined, as if knocking on an empty container;
during auscultation of the abdomen (listening with a phonendoscope) - with flatulence, there is a weakening of peristaltic noises;
with a digital examination of the rectum - multiple sensitive nodes can be found on the mucous membrane of the rectum.

Instrumental research methods that are used in the diagnosis of Gardner's syndrome are:

From laboratory methods examinations used in the diagnosis of Gardner's syndrome are most often used:

- with the development of intestinal bleeding, a decrease in the number of erythrocytes and hemoglobin is determined;
microscopic examination of the biopsy - confirms the diagnosis of polyposis and benign tumors.

Differential Diagnosis

Differential (distinctive) diagnosis of Gardner's syndrome is carried out with such diseases and pathological conditions as:

individual ;
familial polyposis - a hereditary formation of 100 or more polyps in the large intestine;
isolated benign tumors of bone and soft tissues - fibroids, fibromas, myofibromas, lipomas, atheromas, and so on;
malignant tumors of bone and soft tissues - myosarcomas, fibromyosarcomas, skin cancer, and so on.

Complications of Gardner's Syndrome

The most common complications of Gardner's syndrome are:

Treatment of Gardner's syndrome

Treatment of colon polyposis that occurs with Gardner's syndrome is only surgical, since the likelihood of polyps degenerating into colorectal cancer is extremely high. The operation is carried out:

with a small number of polyps - by endoscopic method, while each polyposis outgrowth is removed separately;
with a significant proliferation of polyps - an open method, while resection (removal) of that part of the large intestine in which polyps have grown is carried out. In the case of extensive polyposis, a total colectomy is performed.- complete removal of the large intestine.

To prevent malignant degeneration of colon polyps formed in Gardner's syndrome, the operation is recommended to be performed upon early detection of polyps - at the age of 20-25 years. But this is a disabling operation, so often patients refuse to perform it - in this case, close monitoring of the growth of polyps is necessary, in particular, colonoscopy with a regularity of every 6-8 months.

note

Tumors of bone and soft tissues in Gardner's syndrome are not prone to malignant degeneration, therefore, their removal is carried out in case of an aesthetic defect or functional inconvenience.

Prevention

There is no specific prevention of Gardner's syndrome. The only 100% method that is not the method of choice for ethical reasons is the refusal to become pregnant and give birth to a child in the case of a high probability of developing Gardner's syndrome. In any case, future parents who have relatives with the described disease should seek medical genetic counseling when planning pregnancy.

Prevention of malignant degeneration of colon polyps is their early detection and removal.

Forecast

The prognosis for Gardner's syndrome is ambiguous - primarily because of the high probability of malignant degeneration of colon polyps. The worsening of the prognosis is possible with the development of complications - in the first place:

intestinal bleeding;

Benign tumors of bone and soft tissues in most clinical cases do not lead to any pronounced inconvenience. Complications that may develop due to the growth of such tumors are quite successfully stopped. So, when atheroma suppurates, it is opened, with pressure from soft tissue tumors on the nervous structure, they are removed, due to which neurological symptoms disappears.

Kovtonyuk Oksana Vladimirovna, medical commentator, surgeon, medical consultant

Gardner's syndrome: what does the diagnosis mean and how does it manifest itself?

The normal microflora of the vagina is one of the main factors of nonspecific resistance. normal vagina healthy woman is a reservoir containing both aerobic and anaerobic microflora.

However, the quantity of the former is ten times greater than the quantity of the latter. Its main representatives are lactobacilli, which produce hydrogen peroxide and lactic acid, which prevents the growth of opportunistic bacteria.

However, some endogenous and exogenous factors can provoke the development inflammatory syndrome due to vaginal imbalance.

The condition in which lactic acid bacteria are completely replaced by facultative anaerobes, which are present only in small quantities in the vaginal secret of a healthy woman, is called bacterial vaginosis or gardnerellosis in clinical practice. This is a fairly common pathology, which is diagnosed in 30-35% of patients with mixed urogenital infections.

The causative agent of gardnerellosis

Vaginal gardnerella (Gardnerella vaginalis), which provokes the development of gardnerellosis, was first isolated in patients suffering from vaginitis in 1955 by Duxon and Gardner, who called it Haemophilus influenzae vaginalis.

This microorganism is a non-encapsulated polymorphic nuclear-free gram-variable bacillus (or coccobacillus), reaching a length of 2 μm and 0.7-0.9 μm in diameter. This bacterium can be presented in the form of cocci or small rods, covered with the thinnest cell wall and the outer microcapsular layer.

It should be noted that some gardnerella are characterized by a membrane structure of the cell wall, as in gram-negative bacteria, while others have a homogeneous structure, as in gram-positive microorganisms.

On open surfaces, the pathogen can remain viable for 3-6 hours (in the layer of mucous secretions), and in inactive forms (in the form of spores) - up to a year. Therefore, there is a risk of infection with garnerellosis in public toilets and in stagnant water bodies.

Note: Gardnerella is an opportunistic pathogen that can be present in most healthy women without showing pathogenic properties.

Disease prevalence

According to WHO statistics, gardnerellosis is one of the most common sexually transmitted diseases, which most often affects women of reproductive age.

In men, this disease is much less common.

This pathology is detected in 30-80% of patients suffering from various inflammations of the genital organs, and it is also detected during preventive examinations in a quarter of healthy women.

Risk factors, sources of infection and ways of transmission of gardnerellosis

According to experts, the development of gardnerellosis is directly dependent on the nature of sexual activity. This pathology is never detected in healthy virgins, as well as in women who do not suffer from vaginitis. Therefore, the predisposing factors include:

promiscuous sex life;
previous infections;
menstrual irregularities;
use of intrauterine contraceptives;
long-term use antibacterial drugs and antidepressants, leading to an imbalance of the vaginal microflora;
the use of contraceptives that violate the hormonal background;
use of chlorine-containing antiseptics when douching;
stressful situations;
prolonged wearing of tight-fitting synthetic underwear;
absence in the diet fermented milk products, which are the source of lactobacilli.

It should be emphasized that most often gardnerellosis occurs against the background of other urogenital infections (trichomoniasis, gonorrhea, chlamydia, ureaplasmosis, etc.).

The main route of transmission is sexual. However, the infection can be transmitted from an infected mother to her child when passing through an infected birth canal, or due to intrauterine infection.

Pathogenesis of gardnerellosis

The virulence of this microorganism is relatively low, and only in some strains of gardnerella the end product of fermentation is acetic acid and amino acids.

Others produce lactic and formic acid in the course of their life.

During sexual contact with a woman suffering from gardnerellosis (or a bacteriocarrier), the pathogen enters the male urethral epithelium, and subsequently, during the next sexual contact, infects or reinfects the female genital tract.

Attached to the surface of the stratified squamous epithelium, gardnerella are able to form characteristic formations, which in clinical practice are called "key cells". It is their detection in the course of bacterioscopic examination of smears from the genital organs that has an important diagnostic value.

Unfortunately, to date, the pathogenesis of this disease is not completely clear. However, scientists have found that gardnerella damages epithelial cells vagina, and also causes autolysis (dissolution) of phagocytes.

Clinical forms of gardnerellosis

For description clinical signs urogenital pathologies provoked by anaerobic microorganisms, scientists have developed a special classification that includes the following forms of gardnerellosis:

bacterial vaginosis;
Bacterial lesions of the upper genital tract;
Gardnerellosis of the female urinary tract;
Gardnerellosis of the male urinary tract;
Gardnerellez pregnant.

Bacterial vaginosis

This, according to experts, is the most common clinical form diseases. As a rule, during a diagnostic study, in the discharge from the genital organs, along with gardnerella, other representatives of the anaerobic microflora (leptostreptococci, mobiluncus, bacteroids, etc.) are also found, but at the same time, there are no sexually transmitted pathogens in it. In 50% of patients with bacterial vaginosis, the main symptoms are discharge with an unpleasant smell of rotten fish. In the other half of patients with this form of pathology, objective and subjective symptoms are not detected.

An unpleasant odor, according to experts, occurs due to the formation of biogenic amines during the metabolism of gardnerella and other non-sporogenic anaerobes. Putrescine and cadaverine (pathological amines), presented in the form of non-volatile salts, in the process of alkalization become rapidly evaporating substances exuding a strong fishy smell.

Gardnerellosis of the upper genital tract

With this form of pathology, infection can occur directly through the periuterine tissue, as well as lymphogenous or hematogenous.

There are cases when this form of gardnerellosis became the cause of the development of endometritis and salpingo-oophoritis, and some authors describe cases of blood infection with gardnerella (gardnerella septicemia), leading to severe endotoxic shock and postoperative complications in gynecological patients.

Note: this is why all women preparing for surgery should be screened for bacterial vaginosis without fail.

Gardnerellosis of the urinary tract in women

The development of this pathology is explained by the anatomical proximity of the vagina and urethra, as a result of which the pathogen is transferred from the genital organs to the urinary tract.

There is evidence that gardnerella is very often isolated from the urine of practically healthy women. However, garnerellosis can only be diagnosed if there are more than 1000 CFU of bacteria in one milliliter of urine taken with a catheter.

Gardnerellosis of the male urinary tract

In men, this disease is not as common as in women. Often, when gardnerella is found in combination with other bacteroids, the anterior urethra becomes inflamed in the stronger sex. In this case, there is a sluggish course of urethritis, with mild clinical symptoms.

Patients complain of the occurrence of meager muco-serous discharge, without pain and discomfort. Complications of gardnerellosis in men are very rare in clinical practice. There are isolated reports of the development of gardnerella prostatitis, cystitis, epididymitis and pyelonephritis.

With manifest forms of the disease, the features of the clinical course, as a rule, are determined by precisely those pathogenic microorganisms with which the causative agent of gardnerellosis comes into association.

Note: Men who suffer from an asymptomatic (or asymptomatic) form of the disease are often sources of infection for their sexual partners.

Gardnerellez pregnant

In gynecological practice, this form of pathology occurs in almost 20% of pregnant women. But fortunately, an intrauterine infection develops very rarely, since active defense mechanisms increase during this period. However, some authors note the possibility of moderate suppression of cellular immunity. Very often, bacterial vaginosis causes various disorders during pregnancy, and the disease can also provoke the development of postpartum complications.

Women diagnosed with gardnerellosis are twice as likely to have preterm births, and in a tenth of women in labor, gardnerella and other microorganisms are found in the amniotic fluid, although I should normally be sterile.

There is also evidence that bacterial vaginosis may be associated with chorionamnionitis (a purulent-septic complication that also leads to premature birth), and, according to some experts, gardnerella can provoke postpartum or post-abortion sepsis.

Symptoms of gardnerellosis in women

With the development of the pathological process, patients experience abundant, unpleasantly smelling foamy vaginal discharge, and also, during special laboratory tests, a decrease in the acidity of the vaginal environment is detected. Often, women complain of severe itching and burning in the area of the external genitalia and perineum.

However, patients have hyperemia of the mucous membrane of the vagina, urethra and cervix. With fresh acute gardnerellosis, vaginal discharge is very abundant, thick and homogeneous, white-gray in color, and discharge from the urethra and cervical canal is rather scarce.

In the case when the uterine cavity and fallopian tubes are involved in the pathological process, salpingitis is diagnosed.

Symptoms of gardnerellosis in men

In the representatives of the stronger sex, this disease often occurs exclusively in the form of inflammation of the external genitalia.

As a rule, the causative agent of gardnerellosis is removed from the urinary tract after two or three days (in their healthy state).

However, with hypothermia, reduced immunity, or in the presence of concomitant pathologies, gardnerella becomes aggressive, begins to multiply and leads to inflammation of the urethral mucosa.

Sometimes the disease proceeds in a latent form, without showing itself in any way, and, in the absence of complaints, the man becomes a carrier.

The symptoms of gardnerellosis in men are completely similar to the symptoms of urethritis. With inflammation of the mucous membrane of the urethra in the urethra, there is a burning sensation, discomfort during urination, and muco-serous discharge also appears.

Diagnosis of gardnerellosis

As a rule, when making a diagnosis, complaints from patients, examination data and laboratory results are taken into account.

As a material for research, discharge from the urethra, cervical canal, walls and vaults of the vagina, as well as urine is used.

In the course of bacterioscopy in smears of patients in the absence of leukocytes, key cells are detected (cells of a squamous epithelium, practically "covered" with gram-variable coccobacteria). There is also a decrease in the acidity of the vaginal environment (pH> 4.5), the result of the amine test is positive, lactic acid bacteria are completely absent, and the number of anaerobes exceeds the number of aerobes.

Note: gardnerellosis often develops in those patients who were previously prescribed antibacterial treatment colpitis. In this case, it is antibiotics that aggravate the course of the pathological process.

At the present stage, along with bacterioscopic studies, microbiological methods, DNA hybridization, RIF (immunofluorescence reaction) and PCR are used to detect gardnerellosis.

Treatment of gardnerellosis

Treatment of gardnerellosis is carried out in a complex aimed at restoring normal microflora vagina and creating an optimal physiological environment.

Local treatment, as a rule, should be carried out for at least ten days.

It involves the treatment of the vagina with a solution of miramistin or metronidazole, and patients are prescribed douching with soda solution and chamomile baths.

Without fail, the treatment process shows the use of drugs that stimulate the immune forces of the body and vitamin complexes.

At systemic therapy specialized preparations are prescribed, in which the active active substance is metronidazole or clindamycin. Also, experts recommend the use of biogenic stimulants and medications, normalizing the microbiocenosis of the intestine and vagina.

At acute form pathological process, patients are prescribed a two-week antibiotic therapy. However, sometimes at least two, and sometimes three, courses of treatment are required for a complete cure.

The main problem that arises in the treatment of gardnerellosis is that the causative agent of this disease is a conditionally pathogenic microorganism, and therefore, living in the body of an absolutely healthy woman, under the influence of adverse factors, it becomes aggressive and begins to multiply uncontrollably.

Gardnerella is a microorganism resistant to the action of tetracyclines and macrolides. Therefore, before starting treatment, you should go through all necessary examinations and to pass bakposev on sensitivity to antibacterial preparations.

However, it must be understood that in order to achieve a lasting effect, they need to be taken for a very long time (6-12 months).

As biogenic stimulants that contribute to the normalization of the vaginal and intestinal microflora in folk medicine use lemongrass, aralia and leuzea safrolovidny.

Prevention of gardnerellosis

Women suffering from bacterial vaginosis should pay attention to the condition immune system, since it is the decrease in immunity that entails a violation of the microflora of the vagina and leads to hormonal disorders.

The main ways to prevent gardnerellosis include healthy lifestyle life, proper nutrition, normal sleep, regular walks in the fresh air. It is very important to observe the hygiene of the external genital organs and prevent hypothermia.

In case of accidental sexual intercourse, one should not forget about personal protective equipment, and it will not be superfluous to treat the external genitalia with special antiseptics for two hours.

In order to prevent gardnerellosis, almost all experts recommend refraining from daily douching, since such procedures not only can provoke the development of allergic reactions, but also irritate the vaginal mucosa, washing away the natural lubrication and changing acidity, which ultimately leads to inhibition of natural microflora.

In order to have enough lactic acid bacteria in the vagina, a variety of vegetables and fruits, sauerkraut, biokefirs and yogurts should be present in the diet.

It is imperative to pay attention to the state of the intestinal microflora. In case of violation, it is necessary to conduct a special course of treatment, since opportunistic microorganisms that live in the intestine easily overcome the thin wall and penetrate the vagina. According to experts, the treatment of gardnerellosis in patients with intestinal dysbacteriosis is the most difficult.

When carrying out an adequate timely treatment already after two or four weeks, the microflora of the vagina is completely restored. Otherwise, the pathological process can provoke inflammation of the appendages, the development of various complications during pregnancy, premature birth and female infertility.

Bernard Horner Syndrome: Treatment, Causes and Symptoms

Horner's syndrome is pathological condition caused by damage to the sympathetic nervous system.

The disease is characterized by sweating disorders, ophthalmic problems and decreased vascular tone. The pathology is characterized by a unilateral course - it affects one side of the face.

And, in addition to the appearance of a cosmetic defect, Horner's syndrome causes a number of negative consequences that are difficult to treat.

What is Horner's Syndrome?

Horner's syndrome can occur in both men and women and is very difficult to treat.

Oculosympathetic syndrome, or Horner's syndrome, is a secondary pathology, the development of which occurs against the background of other ailments. The disease was discovered by Johann Friedrich Horner, a German ophthalmologist who first described it in 1869.

The acquired form of the disease is most often associated with the use of a large amount of anesthetic when performing a blockade of the brachial plexus.

The appearance of this syndrome may indicate severe pathologies chest or neck. For example, the symptoms of this pathology are often present in patients with oncological processes in the lungs. The disease is equally common among men and women. Horner's syndrome also occurs in newborns.

The reasons

AT modern medicine distinguish between two forms this disease:

Congenital.
Acquired.

Congenital Horner's syndrome mostly develops as a result of birth trauma. There are also known cases of hereditary transmission of the syndrome in an autosomal dominant manner.

Acquired syndrome can develop for a variety of reasons:

Postponed injuries. The disease often occurs as a result of blunt trauma to the base of the neck, as a result of which the cervical or thoracic sympathetic nerve circuit is affected. As a rule, signs of the disease appear on the side that is opposite to the damaged area.
Complications resulting from surgery. The development of Horner's syndrome often occurs against the background of errors made during the installation of drainage according to Bulau or during the blockade of the cervical plexus.
Neurological disorders (eg. multiple sclerosis or Dejerine-Klumpke palsy).
Diseases of the thyroid gland. Hyperplasia of the thyroid gland often becomes a provocateur of the development of the above syndrome in a patient. At risk are people who have serious disorders in the thyroid gland.
Oncology. Because the tumor compresses nerve fibers may present with clinical symptoms of the disease. Often, lung carcinoma leads to the occurrence of this disease.
Vascular pathologies. In this case, the root cause of the development of Horner's syndrome is an aortic aneurysm. Changes are most often local in nature and relate to those arteries through which blood enters the zone of development of the pathological process.
Diseases of the hearing organs. If the treatment of otitis media, labyrinthitis was untimely or incomplete, then the infectious process can spread to neighboring tissues. The pathogenic microflora that has accumulated in the region of the middle ear begins to spread to neighboring organs.

Symptoms

Pathology is characterized by a unilateral course. Signs of Horner's syndrome can be seen with the naked eye - the patient has a slight rise in the lower eyelid or, on the contrary, drooping of the upper eyelid. It is with these symptoms that most patients go to the doctor.

Other symptoms of Horner's syndrome are:

Anisocoria (different sizes of pupils - on the affected side, the pupil narrows).
hyperemia of the skin and increased sweating on the affected side of the face.
Enophthalmos (retraction of the eye) is slightly expressed.
There is a narrowing palpebral fissure. At the same time, the eyeball itself looks like it is planted deep into the orbit.
The patient complains of difficulty in the release of tears. In very rare cases, the affected eye may appear wet.
Due to persistent miosis, the patient begins to see worse at dusk. We are talking about the deterioration of dark adaptation, when the overall visual acuity is maintained.

If the disease develops in childhood, then one of the most obvious symptoms is a lighter shade of the iris of the affected eye.

Are complications possible?

If this disease is left untreated or treated untimely, then the patient may experience a number of dangerous complications. The most common side effects are:

Inflammation of the anterior segment of the eye. These diseases include blepharitis, keratitis and conjunctivitis.
With retraction of the eye, inflammation of the orbit is possible due to the penetration of infectious agents.
topography change eyeball in relation to the lacrimal gland, it contributes to the development of its dysfunction, which creates favorable ground for the occurrence of xerophthalmia.
Advanced cases of the disease contribute to the appearance of a subperiosteal abscess of the orbit. Phlegmon formation may also occur.
In the predominant part of patients against the background of the development of Bernard-Horner syndrome, secondary hemeralopia occurs (deterioration of visual acuity in low light), which cannot be treated by traditional methods.

Diagnostics

Before referring the patient to diagnostic procedures, the doctor performs a visual examination. As a rule, at this stage, heterochromia and miosis (narrowing of the pupil) are detected. Also on the affected side of the face there is a retraction of the eyeball. The reaction of the pupils to light may be very weak or not be determined at all.

If the above symptoms are detected, the doctor directs the patient to undergo diagnostics:

Biomicroscopy of the eye. The procedure allows you to determine the state of the vessels of the conjunctiva, the degree of transparency of the optical media of the eye and the structure of the iris.
Oxamphetamine test. Allows you to identify the true cause of the development of miosis.
A test to determine the degree of pupillary delay. With Horner's syndrome, it is observed as a prolapse upper eyelid and pupillary constriction.
Orbital CT. This study allows to establish the etiology of the disease. CT scan is necessary in order to identify masses present in the orbit, as well as the presence of injuries.

In addition to the methods described above, it is possible to carry out differential diagnosis. It is carried out when Petit's syndrome and anisocoria are detected. If the patient has the last symptom, further examination is mandatory. Different sizes of pupils can be observed with pathologies of eye development or problems associated with cerebral circulation.

Petit's disease is characterized by a combination of exophthalmos, mydriasis, ophthalmohypertension; sometimes it is called reverse oculosympathetic syndrome.

Treatment

Horner's syndrome is very difficult to treat. Therapy involves the use of such methods:

Neurostimulation is the effect of low-amplitude electrical impulses on those muscles that have been affected as a result of the progression of the disease. Thus, trophism improves, and the muscles partially or fully restore their original functions.
If a disease occurs due to hormonal imbalance, it is necessary to carry out replacement therapy using hormonal drugs.
If the previous methods were ineffective, the patient is scheduled for surgery. Modern plastic surgery allows effective correction of enophthalmos and ptosis.

At the moment, one of the most promising methods for the treatment of Horner's syndrome is kinesiotherapy. This technique involves the implementation of special massage procedures. They allow you to effectively stimulate the affected areas.

Thus, if you suspect the development of Bernard-Horner syndrome, you should consult a doctor as soon as possible. The sooner treatment begins, the more likely the patient will be to recover.

What is Gardner Syndrome?

There are many pathologies that are inherited and laid down at the genetic level. However, some of them do not appear immediately, but only in adulthood. Among such diseases is Gardner's syndrome. This pathology refers to benign neoplasms, sometimes tends to become malignant, that is, it turns into cancer.

Description of Gardner's syndrome

This pathology has become known relatively recently. It was first described in the middle of the 20th century by the scientist Gardner. It was he who established the connection between benign formations of the skin, bones and digestive tract. Another name for the disease is familial (or hereditary) adenomatous polyposis.

Gardner's syndrome is terrible not only with numerous cosmetic skin defects. It is believed that colon polyposis becomes malignant in 90-95% of cases. For this reason, pathology is referred to as obligate precancerous conditions.

Differential diagnosis is carried out with atheromas, Ricklenhausen's syndrome, single osteomas and intestinal polyps.

Causes of the disease and the mechanism of development

Gardner's syndrome refers to hereditary pathologies. It is transmitted at the genetic level from parents and other family members (grandparents). The mode of inheritance of this disease is autosomal dominant. This means a high probability of transmission of pathology from parents to children.

Mesenchymal dysplasia underlies the development mechanism of Gardner's syndrome. Since this tissue is formed skin covering, bones and mucous membrane of the gastrointestinal tract, there is a clinical picture characteristic of this disease.

In addition to hereditary predisposition, mesenchymal dysplasia can form under the influence of harmful factors that affect intrauterine development in the first trimester of pregnancy.

Gardner's syndrome: symptoms of the disease

Most often, the disease manifests itself in adolescence (from 10 years). In some cases, the first symptoms begin later - already in adulthood. Gardner's syndrome has the following manifestations: these are neoplasms of the skin, soft tissues, bones and digestive system. In addition to the intestines, polyps can appear in the stomach and duodenum.

Atheromas, dermoid and sebaceous cysts, fibromas can be observed on the skin. It is also possible the appearance of benign formations of soft tissues. These include lipomas and leiomyomas. All of these neoplasms can occur on the face, scalp, arms or legs. In addition, there are bone lesions. They also belong to benign formations, but often impede functions.

For example, osteomas mandible, skulls. These growths interfere with chewing and can put pressure on brain structures. The most formidable manifestation of the disease is polyposis of the intestine and other organs of the gastrointestinal tract. In most cases, neoplasms of the mucous membrane of the digestive tract are malignant, that is, they turn into cancer. Polyps may not make themselves felt for a long time.

Most often, patients complain of complications: intestinal obstruction, bleeding.

Treatment of Gardner Syndrome in Cuba: Benefits

Since the disease belongs to obligate precancers, surgical removal of neoplasms is necessary. It is very important to diagnose Gardner's syndrome in a timely manner. Photos of patients can be seen in the literature on oncology or on special sites. In addition to clinical manifestations, it is necessary to conduct an x-ray of the digestive tract, a colonoscopy.

Skin lesions and intestinal polyposis allow for a correct diagnosis. Gardner's syndrome is treated in many countries. The advantages of Cuban clinics include the latest equipment, the cost of surgical interventions, and highly qualified specialists from all over the world. Treatment consists of removing the affected part of the intestine.

Gardner syndrome

Gardner syndrome- a hereditary disease accompanied by polyposis of the large intestine in combination with benign neoplasia of the skin, bones and soft tissues. May be asymptomatic for a long time. Bloating, rumbling and stool disorders are possible.

In some cases, intestinal polyposis in Gardner's syndrome is complicated by bleeding or intestinal obstruction. There is a high risk of developing colorectal cancer. The disease is diagnosed on the basis of complaints, family history, examination data, radiography, CT, MRI, ultrasound, endoscopy and other studies. Treatment - endoscopic polypectomy or resection of the affected parts of the intestine.

Polyposis in Gardner's syndrome mainly affects the rectum and sigmoid colon, but polyps can be detected in other parts of the intestine. The syndrome was first described by the American physician and geneticist E. J. Gardner in 1951.

Since then, more than one hundred cases of this disease have appeared in the specialized literature.

In some cases, along with polyposis of the large intestine, osteomas and soft tissue neoplasms in patients with Gardner's syndrome, polyps of the small intestine, stomach and duodenum are found. The risk of malignancy of colon polyps with the development of colorectal cancer during life is about 95%.

Treatment is carried out by specialists in the field of proctology, gastroenterology, oncology, orthopedics, dentistry and maxillofacial surgery.

Symptoms of Gardner's Syndrome

With a moderate number and small size of polyps, intestinal manifestations of Gardner's syndrome may be absent or mild.

In adolescence or youth, patients usually first turn to doctors in connection with the appearance of benign bone and soft tissue tumors.

Some time after the appearance of the growth of osteomas in patients with Gardner's syndrome, the tumors do not become malignant. Soft tissue neoplasias are very diverse. Especially often lipomas, dermatofibromas, neurofibromas and epithelial cysts are detected. Atheromas, leiomyomas and other neoplasms are less common.

Soft tissue tumors in Gardner's syndrome also proceed benignly, malignancy is absent.

During Gardner's syndrome, three stages of intestinal damage can be distinguished. At the first stage, the disease is asymptomatic. On the second, patients note abdominal discomfort, bloating, rumbling, and periodic stool disturbances.

In the feces, impurities of blood and mucus can be detected.

At the third stage, patients with Gardner's syndrome have a pronounced pain syndrome, constant flatulence, abundant impurities of mucus and blood in the stool, weight loss, increased fatigue, emotional lability, electrolyte and protein metabolism disorders.

Many patients with Gardner's syndrome develop anemia due to small but often recurring bleeding from the lower GI tract.

In some cases, patients develop emergency conditions that require emergency medical care - heavy intestinal bleeding or intestinal obstruction.

Diagnosis of Gardner's syndrome

When conducting a physical examination, the doctor notes the presence of multiple bone and soft tissue tumors of various localization. Some patients with Gardner's syndrome have facial deformities caused by osteomas of the facial skull.

On palpation of the bones of the trunk and extremities, tumor-like formations of bone density can be detected. With mild lesions, the number of neoplasias may be insignificant, making diagnosis difficult.

On palpation of the abdomen, there is pain in the left iliac region. At the first stage of intestinal damage, this symptom may be absent. When conducting a digital rectal examination on the rectal mucosa of patients with Gardner's syndrome, multiple nodes are found.

On contrast x-rays, such nodes appear as filling defects. With nodes of a small size (less than 1 cm), the information content of a contrast X-ray study is reduced. During sigmoidoscopy, polyps are detected in the rectum and colon.

The number of polyps can vary greatly.

To clarify the nature and prevalence of bone tumors in Gardner's syndrome, x-rays are performed. With soft tissue neoplasms, CT, MRI or ultrasound of the affected area is prescribed.

If necessary, perform a biopsy of polyps, osteomas and soft tissue neoplasms.

Differential diagnosis of Gardner's syndrome is carried out by proctologists and gastroenterologists with the usual multiple polyps and other forms of familial polyposis.

Different variants of hereditary polyposis are characterized by certain differences in the predominant localization of polyps (damage to the entire large intestine, damage to the distal colon), the nature of pathological changes in bones and soft tissues.

To clarify these differences, before making a final diagnosis, a detailed external examination is carried out, irrigoscopy and colonoscopy are performed.

Treatment and prognosis for Gardner's syndrome

Treatment of Gardner's syndrome is only surgical. Since there is no risk of malignancy of bone and soft tissue neoplasia, the decision to perform surgical interventions is made in the presence of a cosmetic or functional defect.

Polyposis of the large intestine in Gardner's syndrome is considered as an obligate precancer, so many doctors consider it appropriate to perform the operation before the onset of signs of malignancy.

With a small number of polyps, endoscopic polypectomy is possible.

In Gardner's syndrome with severe diffuse polyposis, resection of the affected area of the intestine or total colectomy is indicated with the imposition of an ileostomy or the formation of an ileorectal anastomosis (in the absence of rectal polyps).

In such cases, dynamic observation is shown with a colonoscopy every 6-8 months.

Indications for emergency surgical intervention in Gardner's syndrome are profuse intestinal bleeding and intestinal obstruction. With timely adequate treatment, the prognosis for this disease is quite favorable. The severity of the course is determined by the severity of polyposis and the localization of extraintestinal tumors.

Parents with relatives with Gardner's syndrome are advised to seek medical genetic counseling during pregnancy planning.

Adenomatous polyposis of the colon: Gardner, Pates Eghers and Turcot syndrome

A variety of lesions of the colon include adenomatous polyposis. This disease is considered hereditary, but recently doctors have increasingly begun to pay attention to uniformity. eating behavior in various families. There is a theory that familial adenomatous polyposis is a consequence of generic eating habits. As a rule, colon polyposis is observed in individuals who eat a large amount of starch and exclude vegetable fiber. They have chronic constipation.

Familial adenomatous polyposis is the most common form of adenomatous polyposis syndrome. Hereditary adenomatous polyposis occurs with a frequency of 1 in 7500 people and in 90% of cases affects people under 50 years of age.

Alleged Causes

The disease is inherited in an autosomal dominant manner. When carrying a pathological genome, the probability of developing the disease is 80-100%.

The mutant gene is located on chromosome 5; its normal counterpart encodes the synthesis of a protein that blocks β-catenin and thus suppresses tumor growth.

The mutant gene disrupts the synthesis of this protein (either it is not formed at all, or its inactive form is synthesized), as a result of which β-catenin is not inhibited, activates a number of genes and triggers the growth of adenoma.

Colon damage

In hereditary adenomatous polyposis after puberty, most often between the ages of 20 and 30, the patient develops hundreds (and sometimes thousands) of adenomatous colon polyps.

The result of the development of NAP, leading to the death of the patient, often becomes colon cancer ( malignant neoplasm usually diagnosed 10-15 years after the first polyps are detected).

There are other lesions of the colon.

Stomach and duodenum

In 60-90% of patients with hereditary adenomatous polyposis, duodenal adenomas develop, and in 5-12% of cases - periampullary cancer or duodenal cancer.

Patients who have already undergone prophylactic colonectomy or are older than 20 years should undergo endoscopic examination of the duodenum and periampullary region every 1-3 years.

Gastric polyposis in hereditary adenomatous polyposis is quite common, but cases of gastric cancer are rare.

Other localizations

Hereditary adenomatous polyposis can also be accompanied by the development of pancreatic cancer, hepatoblastoma, diffuse mesenteric fibromatosis (desmoid tumors), and even thyroid and brain cancer.

Symptoms of adenomatous polyposis

The patient may experience bleeding in the rectum and diarrhea. These are the main symptoms of adenomatous polyposis. The basis for the diagnosis of hereditary adenomatous polyposis is a thorough determination of the number of cases of such diseases in the patient's family.

However, in 20% of patients, no cases are detected among family members (the development of the disease is explained by a primary mutation in the germ cells of the patient's parents), and in such cases, the diagnosis of hereditary adenomatous polyposis is based on the detection of hundreds of adenomatous polyps on the colon mucosa during colonoscopy or sigmoidoscopy.

Most polyps are less than 1 cm in size and are histologically identical to polyps found in normal polyposis.

Treatment of adenomatous polyposis

Given the high risk of polyp malignancy in post-pubertal patients, prophylactic colonectomy is indicated.

With a colonectomy with the creation of an ileorectal anastomosis, the ability to voluntarily defecate is preserved, but the risk of developing cancer in the remaining area of the rectum increases (up to 15% of cases).

Therefore, a complete colonectomy is performed with the formation of an ileoanal anastomosis or ileostomy. This is the only treatment for adenomatous polyposis.

Other forms of adenomatous polyposis syndrome

Juvenile polyposis. Juvenile polyps usually consist largely of lamina propria and dilated cystic glands, with minimal involvement of mucosal epithelium. Histologically, polyps are hamartomas.

The disease is acquired in nature, for the first time it is usually detected at the age of 1 to 7 years. Polyps of this type are often single and vary greatly in size (from 3 mm to 2 cm). The usual place of localization of polyps is the rectum. Juvenile polyps are not malignant.

However, their surgical excision is indicated, since such polyps are well supplied with blood and often become a source of bleeding.

Peutz-Jeghers Syndrome

Peutz-Jeghers syndrome is a combination of pigmentation of the mucous membranes and skin with polyposis of the stomach and small intestine, which has a family predisposition.

Polyps are characterized by the presence of glandular epithelium, which is supported by a smooth muscle structure that passes into the muscular layer of the mucous membrane.

Polyps are multiple, can be located throughout the gastrointestinal tract, but they are mainly found in the small intestine. The syndrome is inherited in an autosomal dominant manner and is associated with a mutation in the serine-threonine kinase gene located on chromosome 19.

In this disease, a characteristic pigmentation of the mucous membranes and skin, resembling freckles, is noted. The disease is characterized by a high risk of cancer (90% at age 65), and an increased risk of breast, uterine and testicular cancer.

Gardner syndrome

Gardner's syndrome is a hereditary disease that manifests itself in the form of polyposis in the gastrointestinal tract, a variety of benign soft tissue tumors (eg, epidermoid cysts, fibromas, lipomas), malocclusion, and hypertrophy of the retinal pigment epithelium. The development of the syndrome is associated with a mutation in the APC gene.

Turcot syndrome

Turcot syndrome is a syndrome characterized by a combination of familial colon polyposis with primary tumors of the central nervous system (usually the brain). In this syndrome, colon polyps are rarely found before the onset of puberty, but by the age of 25, all patients already have them.

Without surgical treatment in almost all cases, colon cancer develops by the age of 40.

There are suggestions that the disease is caused by abnormal proliferation of intestinal epithelial cells and is accompanied by impaired DNA repair. All patients underwent colonectomy.