Treatment of Gilbert's syndrome. Gilbert's syndrome: symptoms, causes and treatment of the disease Gilbert's treatment which drugs are better

Gilbert's syndrome is a chronic hereditary liver disease caused by a violation of the capture, transport and utilization of bilirubin, characterized by the periodic appearance of yellowing skin and visible mucous membranes, hepatosplenomegaly (enlarged liver, spleen) and symptoms of cholecystitis (inflammation of the gallbladder).

One of the important functions of the liver is to purify the blood from the waste products of the body and toxic substances that enter it from the outside. The portal or portal vein of the liver delivers blood to the hepatic lobules (morphofunctional unit of the liver) from unpaired organs abdominal cavity(stomach, duodenum, pancreas, spleen, small and large intestines), where it is filtered.

Bilirubin is a breakdown product of erythrocytes - blood cells that transport oxygen to all tissues and organs. The erythrocyte is composed of heme, an iron-containing substance, and globin, a protein.

After the destruction of the cell, the protein substance breaks down into amino acids and is absorbed by the body, and heme, under the action of blood enzymes, turns into indirect bilirubin, which is a poison for the body.

With the blood flow, indirect bilirubin reaches the hepatic lobules, where, under the action of the enzyme glucuronyl transferase, it combines with glucuronic acid. As a result, bilirubin becomes bound and loses its toxicity. Further, the substance enters the intrahepatic bile ducts, then into the extrahepatic ducts and gallbladder. Bilirubin is excreted from the body as part of bile through the urinary system and the gastrointestinal tract.

The disease is common in all countries of the world and averages 0.5 - 7% of the total population of the planet. Most often, Gilbert's syndrome occurs in Africa (Morocco, Libya, Nigeria, Sudan, Ethiopia, Kenya, Tanzania, Angola, Zambia, Namibia, Botswana) and Asia (Kazakhstan, Uzbekistan, Pakistan, Iraq, Iran, Mongolia, China, India, Vietnam, Laos, Thailand).

Gilbert's syndrome affects men more often than women - 5-7: 1 at the age of 13 to 20 years.

The prognosis for life is favorable, the disease persists for life, but if the diet and drug treatment are followed, it does not lead to death.

The prognosis for disability is doubtful, with the years of progression of Gilbert's syndrome, diseases such as cholangitis (inflammation of the intrahepatic and extrahepatic biliary tract) and cholelithiasis (formation of stones in the gallbladder) develop.

Parents of children who suffer from Gilbert's syndrome before planning the next pregnancy need to undergo a series of tests by a geneticist, similarly, patients with Gilbert's syndrome should do the same before having children.

Causes

The cause of Gilbert's syndrome is a decrease in the activity of the enzyme glucuronyl transferase, which converts toxic indirect bilirubin into direct - non-toxic. Hereditary information about this enzyme is encoded by the gene - UGT 1A1, a change or mutation in which leads to the appearance of the disease.

Gilbert's syndrome is transmitted in an autosomal dominant manner, i.e. From parents to children, a change in genetic information can be passed down both male and female lines of inheritance.

There are a number of factors that can provoke an exacerbation of the disease, these include:

• heavy physical work;
• viral infections in the body;
• exacerbation chronic diseases;
• hypothermia, overheating, excessive insolation;
• starvation;
• a sharp violation of the diet;
• taking alcohol or drugs;
• overwork of the body;
• stress;
• taking some medicines, which are associated with the activation of the enzyme - glucuronyl transferase (glucocorticosteroids, paracetamol, acetylsalicylic acid, streptomycin, rifampicin, cimetidine, chloramphenicol, chloramphenicol, caffeine).

Classification

There are 2 variants of the course of Gilbert's syndrome:

• the disease occurs at the age of 13-20, if during this period of life there was no acute viral hepatitis;
• the disease occurs before the age of 13 if infection with acute viral hepatitis occurs.

By periods, Gilbert's syndrome is divided into:

• period of exacerbation;
• remission period.

Symptoms of Gilbert's syndrome

Gilbert's syndrome is characterized by a triad of signs, described by the author who discovered this disease:

• "Liver mask" - yellowness of the skin and visible mucous membranes;
• Xanthelasmas of the eyelids - the appearance of granularity yellow color under the skin of the upper eyelid;
• The frequency of symptoms - the disease is replaced alternately by periods of exacerbation and remission.

The period of exacerbation is characterized by:

• the occurrence of fatigue;
• headache;
• dizziness;
• memory impairment;
• drowsiness;
• depression;
• irritability;
• anxiety;
• anxiety;
• general weakness;
• tremor of the upper and lower extremities;
• pain in muscles and joints;
• dyspnea;
• labored breathing;
• pain in the region of the heart;
• lowering blood pressure;
• increased heart rate;
• pain in the hypochondrium and in the stomach;
• nausea;
• lack of appetite;
• vomiting of intestinal contents;
• flatulence of the intestine;
• diarrhea or constipation;
• discoloration of feces;
• swelling of the lower extremities.

The period of remission is characterized by the absence of any symptoms of the disease.

Diagnostics

Gilbert's syndrome is a rather rare disease and in order to correctly diagnose it, it is necessary to undergo all the mandatory examinations that are prescribed to patients with yellowing of the skin, and then, if the cause has not been established, they are prescribed additional methods examinations.

Laboratory tests

Main methods:

General blood analysis:

General urine analysis:

Biochemical blood test:

Liver tests:

Coagulogram (blood clotting):

Viral hepatitis B, C and D markers were negative.

Additional methods:

• Analysis of feces for stercobilin - negative;
• Fasting test: the patient is on a diet with a calorie content not exceeding 400 kcal per day for two days. Serum bilirubin levels are measured before and after the diet. When it is raised by 50 - 100%, the test is positive, which indicates in favor of Gilbert's syndrome;
• Test with nicotinic acid: with the introduction nicotinic acid for a patient with Gilbert's syndrome, the level of indirect bilirubin increases sharply;
• Test with phenobarbital: when taking phenobarbital, the level of indirect bilirubin in the blood serum decreases in patients with Gilbert's syndrome.

Instrumental examination methods

Main methods:

• Ultrasound of the liver;
• CT ( CT scan) liver;
• MRI (magnetic resonance imaging) of the liver.

These examination methods involve only the establishment of a preliminary diagnosis - hepatosis - a group of liver diseases, which is based on a metabolic disorder in the hepatic lobules. The reason why this phenomenon arose by the above methods cannot be established.

Additional methods:

• Genetic examination of venous blood or buccal epithelium (cells of the oral mucosa).

From the cells of the material taken in the laboratory, geneticists isolate and unwind a DNA molecule (deoxyribonucleic acid) that contains chromosomes that contain genetic information.

Specialists are studying the gene whose mutation led to Gilbert's syndrome.

Interpretation of the results (what you will see in the conclusion of a geneticist doctor):

UGT1A1 (TA)6/(TA)6 – normal value;

UGT1A1 (TA)6/(TA)7 or UGT1A1 (TA)7/(TA)7 is Gilbert's cider.

Treatment of Gilbert's syndrome

Medical treatment

Drugs that reduce the level of indirect bilirubin in the blood:

• phenobarbital 0.05 - 0.2 g 1 time per day. Since the drug has a hypnotic and sedative effect, it is advisable to take it at night;
• zixorin 0.05 - 0.1 g 1 time per day. The drug is well tolerated, does not have a hypnotic effect, but has not been produced in Russia for the past few years.

Sorbents:

• enterosgel 1 tablespoon 3 times a day between meals.

Enzymes:

• Panzinorm 20,000 IU or Creon 25,000 IU 3 times a day with meals.

• Essentiale 5.0 ml per 15.0 ml of the patient's blood 1 time per day intravenously.

• Karlovy Vary salt 1 tablespoon dissolved in 200.0 ml of water in the morning on an empty stomach, hofitol 1 capsule 3 times a day or holosas 1 tablespoon 3 times a day - for a long time.

Vitamin therapy:

• neurobion 1 tablet 2 times a day.

Replacement therapy:

• In severe cases of the disease, when the increase in indirect bilirubin in the blood serum reaches critical numbers (250 and above μmol / l), albumin administration and blood transfusion are indicated.

Physiotherapy treatment

Phototherapy - a blue lamp is placed 40 - 45 cm from the skin, the session lasts 10 - 15 minutes. Under the action of waves at 450 nm, the destruction of bilirubin is achieved directly in the surface tissues of the body.

Alternative treatment

• Treatment of Gilbert's syndrome with juices and honey:
  • 500 ml of beet juice;
  • 50 ml of aloe juice;
  • 200 ml of carrot juice;
  • 200 ml of black radish juice;
  • 500 ml of honey.

  Mix the ingredients, store in the refrigerator. Take 2 tablespoons 2 times a day before meals.

A diet that alleviates the course of the disease

Diets should be followed not only during the period of exacerbation of the disease, but also during periods of remission.

Approved for use:

• meat, poultry, non-fatty fish;
• all types of cereals;
• vegetables and fruits in any form;
• non-fat dairy products;
• bread, biscuit pechente;
• freshly squeezed juices, fruit drinks, tea.

Forbidden to use:

• fatty meats, poultry and fish;
• whole milk and high-fat dairy products (cream, sour cream);
• eggs;
• spicy, salty, fried, smoked, canned foods;
• hot sauces and spices;
• chocolate, sweet dough;
• coffee, cocoa, strong tea;
• alcohol, carbonated drinks, juices in tetra packs.

Complications

• cholangitis (inflammation of the intrahepatic and extrahepatic bile ducts);
• cholecystitis (inflammation of the gallbladder);
• cholelithiasis (the presence of stones in the gallbladder);
• pancreatitis (inflammation of the pancreas);
• rarely - liver failure.

Prevention

Prevention of the disease is to prevent those factors that will provoke an exacerbation of the pathological process in the liver:

• prolonged exposure to the sun;
• hypothermia or overheating of the body;
• heavy physical labor;
• alcohol or drug use.

You should stick to a diet, do not overwork and lead an active lifestyle.

Genetic diseases are a problem that scientists have been struggling with for decades. What is Gilbert's syndrome? "Breakage" of the gene in one of the parents is transmitted to the fetus, and sooner or later a somatic pathology develops, in the worst case - incurable, at best - maintained in long-term remission with medication. An example of such a pathology is Gilbert's disease, the symptoms of which are quite pronounced.

Gilbert's syndrome - what is it?

Before considering the symptoms and treatment of a disease, it is important to understand what it is.

Our blood contains an important element - bilirubin, which is formed during the breakdown of blood cells - erythrocytes, and is also one of the bile pigments. It can be indirect and direct: the first is formed from blood hemoglobin through the reticuloendothelial system, the second is formed by the liver from indirect hemoglobin. The totality of indicators of direct and indirect bilirubin is called total.

Normally, the amount of direct bilirubin is up to 16.5 µmol/l, indirect - up to 5.1, total - 8-20.5 µmol/l.

Gilbert's syndrome is characterized by an increase in the amount of bilirubin in the blood up to 100 µmol / l, while the amount of indirect bilirubin in the blood is greater. It is noteworthy that the indicators of all other blood tests remain within the normal range.

The disease manifests itself in childhood and adolescence, most often, it is diagnosed in children aged 3-12 years. Moreover, boys get sick three times more often than girls.

Interesting! Pathology was discovered more than a hundred years ago, in 1901, but during this time no cure was found for it.

Symptoms of the disease

In most cases, the only sign of the disease is the staining of the skin, mucous membranes, sclera and whites of the eyes in a yellowish tint. Given the fact that other symptoms do not occur, some doctors suggest considering Gilbert's syndrome not as a somatic pathology, but as some kind of anomaly of the body, to which the body has adapted and functions normally.

However, some patients complain about the symptoms accompanying the disease, and although it is difficult to accurately establish the relationship between the disease and the symptoms described below, the following symptoms are noted:

• functional disorders nervous system: emotional lability, insomnia, dizziness, vegetative disorders;
• functional disorders digestive system: nausea, heartburn, changes in appetite and stool, bloating, bitter taste in the mouth.

For all uncharacteristic symptoms of the disease, symptomatic treatment is used, that is, drugs are used that stop discomfort- Pain, nausea, diarrhea.

Provocateurs of the disease

As you know, Gilbert's disease occurs due to genetic damage in the body. But, nevertheless, not a single pathology occurs without a provoking factor.

The provocateur of Gilbert's disease can be:

emotional stress, even "positive", a long stay in a state of internal tension, neurosis, depression. Sometimes a sharp strong excitement, fear, can act as a provocateur.

physical stress- any load on the body for which he was not ready. This may also be physical exercise, that is, intense training in the gym, or the load on the adaptive functions of the body, for example, with a sharp change in climate. Pregnancy, especially late pregnancy, can become physical stress for a woman's body. Also, in the role of a provocateur, there may be injuries or surgical interventions.

Taking medications:

• anabolic steroids;
• glucocorticoids.

Cold diseases of the body– any severe viral or bacterial infection has a strong effect on immune system, which is able to "activate" hidden genetic pathologies. Diseases such as:

• flu;
• viral hepatitis;
• ARVI of moderate and severe severity.

Improper nutrition which causes stress on the liver. It is noteworthy that both overeating and a calorie deficit can act as a provoking factor. The same subtype of factors includes excessive alcohol consumption.

If one of the close relatives has encountered this pathology, it is necessary to ensure that one of the factors described above does not become provoking. Given the age at which the pathology manifests itself, it is more relevant to say that parents should monitor the manifestation and development of the disease.

How the disease progresses

In most cases, the disease proceeds in a latent form, that is, the patient does not experience any symptoms, even yellowing of the skin and whites of the eyes.

From remission, Gilbert's disease can proceed into exacerbations, the main symptom of which is jaundice, especially if the level of indirect hemoglobin is too high. Patients may complain of heaviness and pain in the right side, belching, constipation and diarrhea. A high level of bilirubin in the blood negatively affects the function of the central nervous system, so a person experiences weakness, headache and irritability.

Thus, the clinical picture of a patient in a state of exacerbation consists of three components:

• jaundice;
• disruption of the gastrointestinal tract;
• symptoms of weakness of the nervous system.

Then Gilbert's disease again enters a state of remission and such an alternation of exacerbations and latent forms can last throughout life.

With an unfavorable course of the disease, the disease can lead to such pathologies as cholelithiasis, chronic hepatitis, duodenal ulcers.

Diagnostics

Given the fact that Gilbert's disease is diagnosed in childhood, the pediatrician usually takes the diagnosis and treatment.

The diagnostic process includes several steps:

1. Collecting a patient's history, finding out information about what diseases the patient has already suffered, what somatic pathologies the next of kin have. As well as information about what could provoke the disease: whether the patient took any drugs, whether he received injuries, whether he underwent surgery.
2. Examination of the patient - examining the color of the skin for jaundice, palpation of his abdomen and hypochondrium.
3. Laboratory research:

• general blood test - the amount of hemoglobin is considered, an indicator of the disease is an increase in its level of more than 160 g / l;
• the biochemical composition of the blood - bilirubin is considered (with a disease slightly increased), ALT, AST, cholesterol, total protein (with a disease within the normal range;
• coagulogram - an indicator of blood clotting (with a disease it can be slightly reduced);
• urinalysis - bilirubin is considered (with a disease it may be present);
• specific tests using an antibiotic, phenobarbital, nicotinic acid.

1. Research to identify the provoking factor:

• analysis for all types of hepatitis;
• PCR is a test for the detection of defects in DNA.

1. Functional diagnostics:

• Ultrasound of all abdominal organs;
• CT and MRI of the liver;
• liver elastography to detect tissue fibrosis.

1. Liver biopsy.

Not all methods are required for diagnosis. Most often, the doctor only needs clinical picture and laboratory tests blood to make a diagnosis. But if the picture of symptoms is distorted, the doctor needs additional data for differential diagnosis.

Important! When planning a pregnancy by a couple in which one of the future parents suffers from this disease, it is important to contact a family planning office and a geneticist for a comprehensive consultation.

Diet and lifestyle

There is no therapy aimed at a complete cure for Gilbert's disease. The patient needs to develop a lifestyle in which exacerbations will be minimized, and remission will be long and persistent.

The main emphasis in drawing up a therapeutic plan is given to a nutrition plan. Various diets are excluded in order to rapid decline weight gain or muscle gain. Nutrition should be balanced and healthy.

As an ideal diet, you can use "Table No. 5", adapting the recommendations to your taste preferences. It is strictly forbidden to drink alcohol, fresh pastries, fatty meats and fish, sorrel, spinach.

The basis of the diet should be vegetable soups, lean meat, cereals, sweet fruits, cottage cheese, rye bread.

In addition, a person must protect himself from stress and nervous overload, do not engage in heavy sports, observe a sleep and rest regimen.

Medical treatment

All drugs prescribed for Gilbert's disease are prescribed to protect the liver and relieve symptoms of jaundice.

The drugs prescribed include:

• barbiturates - to reduce the level of bilirubin in the blood ("Surital", "Fiorinal");
• choleretic agents - to reduce the yellowness of the skin ("Karsil", "Holenzim");
• hepatoprotectors - to protect liver cells ("Heptral", "Essentiale Forte");
• enterosorbents - to reduce the amount of bilirubin by removing it from the intestines (activated carbon, Polyphepan, Enterosgel);
• diuretics - to remove bilirubin in the urine ("Furosemide", "Veroshpiron");
• albumin - to reduce bilirubin;
• antiemetics - according to indications, in the presence of nausea and vomiting.

It is important to note that diagnostic procedures the patient will have to undergo regular check-ups to control the course of the disease and study the body's response to drug treatment. Timely delivery of tests and regular visits to the doctor will not only reduce the severity of symptoms, but also prevent possible complications, which include such serious somatic pathologies as hepatitis and cholelithiasis.

Folk recipes

The easiest way to use traditional medicine for Gilbert's disease is to replace plain tea with a decoction of medicinal herbs. Preparing it is very simple: boil water in a bowl, add a handful of dry plants there, remove from heat, cover with a lid and let it brew. Take at least three times a day, can be diluted with hot water.

For Gilbert's disease, the following herbs can be used:

• calendula;
• barberry;
• rose hip;
• milk thistle;
• stigmas of corn.

Important! You should not take a single-component drug for more than 10 days, you need to change recipes or use ready-made pharmacy fees, and drink them according to the instructions for use.

As methods traditional medicine you can use the following recipes:

1. In a bottle olive oil add honey and juice of 2-3 lemons. Shake the bottle thoroughly and leave to infuse in a cool place. Use before meals 3-4 times a day, one tablespoon.
2. Take the burdocks collected in May and squeeze the juice out of them. Drink two teaspoons three times a day for 7-12 days.
3. A good effect is given by birch fungus - chaga. For 15 parts of the mushroom, you need to take 1 part of propolis, mix with a blender and pour 1 liter of boiling water. insist, strain, add white clay. There is a tablespoon before meals 3 times a day for exactly 20 days.

Folk medicine shows good results, but, nevertheless, the main method of therapy remains the avoidance of stress, colds and a balanced diet.

Prevention

Gilbert's disease genetic disease so there is no way to prevent it. But the fact is that a person cannot know for sure what genetic diseases are lurking in his body until such time as the provoking factor reveals the clinical picture of the disease by clicking on the "trigger".

Therefore, for each person, the best solution would be to avoid provoking factors: eat a balanced and moderate diet, avoid stress and at the same time learn how to respond to them correctly, give up addictions.

In addition, it is useful to visit a doctor as part of a medical examination at least once a year in order to notice latent diseases in time.

Gilbert's syndrome is a hereditary genetic disease that manifests itself in a violation of the utilization of bilirubin in the body. The liver of the patient cannot neutralize this bile pigment in full, and it accumulates in the body, causing jaundice. The disease is of a hereditary type with a benign but chronic course.

How to treat Gilbert's syndrome?

This disease does not pose a threat to life and rarely leads to complications, therefore, Gilbert's syndrome usually does not require specific and systematic treatment.

Drug treatment is usually prescribed to neutralize the symptoms caused by it, and non-drug methods are used to prevent their occurrence: adherence to a regimen, a special diet, and avoidance of factors that can provoke an exacerbation.

Treatments for Gilbert's syndrome, which are applied as needed, include the following:

1. Taking drugs that reduce the level of bilirubin in the blood. These include, first of all, phenobarbital and preparations containing it. Medication usually lasts 2-4 weeks and stops after disappearance external signs(jaundice) and normalization of the level of bilirubin in the blood. The disadvantage of this method of treatment is that the drugs can be addictive, and the effect of them comes to naught, it is necessary to stop taking them. Many patients prefer to replace phenobarbital in the treatment of Gilbert's syndrome with drugs containing it, but with a milder effect, such as Corvalol or Valocordin.
2. Acceleration of absorption and excretion of bilirubin (taking diuretics and activated carbon).
3. Albumin injections that bind bilirubin already circulating in the blood.
4. Taking B vitamins.
5. Taking hepatoprotectors to maintain liver function.
6. Reception during an exacerbation of symptoms.
7. Compliance with a diet with as little as possible the use of complex fats, preservatives, alcohol.
8. Avoiding situations that provoke an exacerbation of symptoms (infections, stress, fasting, excessive exercise, drugs that adversely affect the liver).

Diet for Gilbert's syndrome

In the treatment of Gilbert's syndrome, one of the key positions is occupied by proper nutrition.

There are no products that are unambiguously contraindicated for all patients with such a diagnosis. In each case, such a set can be individual. So, in almost all patients with Gilbert's syndrome, alcohol consumption causes a sharp exacerbation of symptoms, but there are cases when this does not happen.

Also, fasting and a protein-free diet are contraindicated for patients. Seafood, eggs, dairy products must be included in the diet. And it is better to refuse excessively fatty and fried foods, as it adversely affects the liver.

In addition, long breaks are unacceptable, followed by a plentiful meal. Meals should be regular, preferably fractional, in small portions, but up to 5 times a day.

Treatment of Gilbert's syndrome with folk remedies

As already mentioned, although the disease rarely leads to physical discomfort, its external manifestations cause psychological inconvenience to many. To combat jaundice in Gilbert's syndrome, you can use not only medical preparations, but also herbal treatment, the use of choleretic teas, decoctions that help cleanse and improve the activity of the liver.

These include:

It is advisable to alternate the intake of herbs or use special fees. Also in the case of milk thistle good effect takes the oil of this plant.

Clinicians have found that more often this disorder is diagnosed in men than in women. The peak of exacerbation falls on the age category from two to thirteen years, however, it can occur at any age, since the disease is chronic.

Become a trigger factor for the development of characteristic symptoms can a large number of predisposing factors, such as unhealthy lifestyle, excessive physical activity, indiscriminate use of medications and many others.

What is it in simple words?

In simple terms, Gilbert's Syndrome is a genetic disease that is characterized by a violation of the utilization of bilirubin. The liver of patients does not properly neutralize bilirubin, and it begins to accumulate in the body, causing various manifestations of the disease. It was first described by the French gastroenterologist Augustine Nicolas Gilbert (1958-1927) and his colleagues in 1901.

Since this syndrome has a small number of symptoms and manifestations, it is not considered a disease, and most people do not know that they have this pathology until a blood test shows an elevated level of bilirubin.

In the United States, approximately 3% to 7% of the population has Gilbert's syndrome, according to National Institute Health - Some gastroenterologists believe that the prevalence may be higher, as high as 10%. The syndrome appears more often among men.

Reasons for development

The syndrome develops in people who, from both parents, inherited a defect in the second chromosome in the location responsible for the formation of one of the liver enzymes - uridine diphosphate-glucuronyl transferase (or bilirubin-UGT1A1). This causes a decrease in the content of this enzyme to 80%, which is why its task - the conversion of indirect bilirubin, which is more toxic to the brain, into a bound fraction - is performed much worse.

The genetic defect can be expressed in different ways: an insertion of two extra nucleic acids is observed at the bilirubin-UGT1A1 location, but it can occur several times. The severity of the course of the disease, the duration of its periods of exacerbation and well-being will depend on this. This chromosomal defect often makes itself felt only starting from adolescence when the metabolism of bilirubin changes under the influence of sex hormones. Due to the active influence of androgens on this process, Gilbert's syndrome is recorded more often in the male population.

The transmission mechanism is called autosomal recessive. This means the following:

1. There is no connection with the X and Y chromosomes, that is, the abnormal gene can manifest in a person of any gender;
2. Each person has a pair of each chromosome. If he has 2 defective second chromosomes, then Gilbert's syndrome will manifest itself. When a healthy gene is located on the paired chromosome at the same locus, the pathology has no chance, but a person with such a gene anomaly becomes a carrier and can pass it on to his children.

The probability of manifestation of most diseases associated with a recessive genome is not very significant, because if there is a dominant allele on the second similar chromosome, a person will only become a carrier of the defect. This does not apply to Gilbert's syndrome: up to 45% of the population has a defective gene, so the chance of passing it on from both parents is quite high.

Symptoms of Gilbert's syndrome

The symptoms of the disease under consideration are divided into two groups - mandatory and conditional.

Mandatory manifestations of Gilbert's syndrome include:

• general weakness and fatigue for no apparent reason;
• yellow plaques form in the eyelid area;
• sleep is disturbed - it becomes shallow, intermittent;
• appetite decreases;
• areas of yellow skin that appear from time to time, if bilirubin decreases after an exacerbation, then the sclera of the eyes begin to turn yellow.

Conditional symptoms that may or may not be present:

• pain in muscle tissues;
• severe itching of the skin;
• intermittent shaking upper limbs;
• regardless of food intake;
• headache and dizziness;
• apathy, irritability - violations of the psycho-emotional background;
• bloating, nausea;
• stool disorders - patients are worried about diarrhea.

During periods of remission of Gilbert's syndrome, some of the conditional symptoms may be absent altogether, and in a third of patients with the disease in question, they are absent even during periods of exacerbation.

Diagnostics

Various laboratory tests help to confirm or refute Gilbert's syndrome:

• bilirubin in the blood - the normal content of total bilirubin is 8.5-20.5 mmol / l. With Gilbert's syndrome, there is an increase in total bilirubin due to indirect.
• general blood test - reticulocytosis (increased content of immature erythrocytes) and mild anemia - 100-110 g / l are noted in the blood.
• biochemical analysis of blood - blood sugar - normal or slightly reduced, blood proteins - within normal limits, alkaline phosphatase, AST, ALT - normal, thymol test is negative.
• general urine analysis - no deviations from the norm. The presence of urobilinogen and bilirubin in the urine indicates liver pathology.
• blood clotting - prothrombin index and prothrombin time - within normal limits.
• markers of viral hepatitis are absent.
• Ultrasound of the liver.

Differential diagnosis of Gilbert's syndrome with Dubin-Johnson and Rotor syndromes:

• Enlargement of the liver is typical, usually insignificant;
• Bilirubinuria - absent;
• Increased coproporphyrins in the urine - no;
• Glucuronyltransferase activity - decrease;
• Enlargement of the spleen - no;
• Pain in the right hypochondrium - rarely, if there is - aching;
• Skin itching - absent;
• Cholecystography is normal;
• Liver biopsy - normal or deposition of lipofuscin, fatty degeneration;
• Bromsulfalein test - more often the norm, sometimes a slight decrease in clearance;
• An increase in serum bilirubin is predominantly indirect (unbound).

In addition, special tests are carried out to confirm the diagnosis:

• Fasting test.
• Fasting for 48 hours or limiting the calorie content of food (up to 400 kcal per day) leads to a sharp increase (2-3 times) in free bilirubin. Unbound bilirubin is determined on an empty stomach on the first day of the test and two days later. An increase in indirect bilirubin by 50-100% indicates a positive test.
• Test with phenobarbital.
• Taking phenobarbital at a dose of 3 mg / kg / day for 5 days helps to reduce the level of unbound bilirubin.
• Test with nicotinic acid.
• Intravenous injection of nicotinic acid at a dose of 50 mg leads to an increase in the amount of unbound bilirubin in the blood by 2-3 times within three hours.
• Rifampicin test.
• The introduction of 900 mg of rifampicin causes an increase in indirect bilirubin.

The diagnosis can also be confirmed by percutaneous puncture of the liver. Histological examination punctate shows no signs of chronic hepatitis and cirrhosis of the liver.

Complications

The syndrome itself does not cause any complications and does not damage the liver, but it is important to differentiate one type of jaundice from another in time.

This group of patients had hypersensitivity liver cells to hepatotoxic factors such as alcohol, drugs, some groups of antibiotics. Therefore, in the presence of the above factors, it is necessary to control the level of liver enzymes.

Treatment of Gilbert's syndrome

During the period of remission, which can last for many months, years, and even a lifetime, no special treatment is required. Here the main task is to prevent aggravation. It is important to follow a diet, a regimen of work and rest, not to overcool and avoid overheating of the body, to exclude high loads and uncontrolled reception medicines.

Medical treatment

Treatment of Gilbert's disease with the development of jaundice includes the use of medications and diet. From medicines are used:

• albumin - to reduce bilirubin;
• antiemetics - according to indications, in the presence of nausea and vomiting.
• barbiturates - to reduce the level of bilirubin in the blood ("Surital", "Fiorinal");
• hepatoprotectors - to protect liver cells ("Heptral", "Essentiale Forte");
• choleretic agents - to reduce the yellowness of the skin ("Karsil", "Holenzim");
• diuretics - to remove bilirubin in the urine ("Furosemide", "Veroshpiron");
• enterosorbents - to reduce the amount of bilirubin by removing it from the intestines (activated carbon, Polyphepan, Enterosgel);

It is important to note that the patient will have to undergo diagnostic procedures regularly to control the course of the disease and study the body's response to drug treatment. Timely delivery of tests and regular visits to the doctor will not only reduce the severity of symptoms, but also prevent possible complications, which include such serious somatic pathologies as hepatitis and gallstone disease.

Remission

Even if a remission has come, patients should by no means “relax” - care must be taken to ensure that another exacerbation of Gilbert's syndrome does not happen.

First, you need to protect the biliary tract - this will prevent stagnation of bile and the formation of stones in the gallbladder. Cholagogue herbs, Urocholum, Gepabene or Ursofalk preparations will be a good choice for such a procedure. Once a week, the patient should do a "blind probing" - on an empty stomach, you need to drink xylitol or sorbitol, then you need to lie on your right side and warm the area of ​​\u200b\u200bthe anatomical location of the gallbladder with a heating pad for half an hour.

Secondly, you need to choose a competent diet. For example, it is imperative to exclude from the menu products that act as a provoking factor in the event of an exacerbation of Gilbert's syndrome. Each patient has such a set of products is individual.

Food

Diets should be followed not only during the period of exacerbation of the disease, but also during periods of remission.

Forbidden to use:

• fatty meats, poultry and fish;
• eggs;
• hot sauces and spices;
• chocolate, sweet dough;
• coffee, cocoa, strong tea;
• alcohol, carbonated drinks, juices in tetra packs;
• spicy, salty, fried, smoked, canned foods;
• whole milk and high-fat dairy products (cream, sour cream).

Approved for use:

• all types of cereals;
• vegetables and fruits in any form;
• non-fat dairy products;
• bread, biscuit pechente;
• meat, poultry, non-fatty fish;
• freshly squeezed juices, fruit drinks, tea.

Forecast

The prognosis is favorable, depending on how the disease progresses. Hyperbilirubinemia persists for life, but is not accompanied by an increase in mortality. Progressive changes in the liver usually do not develop. When insuring the life of such people, they are referred to the group of ordinary risk. When treated with phenobarbital or cordiamine, the level of bilirubin decreases to normal. Patients should be warned that jaundice may occur after intercurrent infections, repeated vomiting, and missed meals.

High sensitivity of patients to various hepatotoxic effects (alcohol, many drugs, etc.) was noted. Possible development of inflammation in the biliary tract, cholelithiasis, psychosomatic disorders. Parents of children with this syndrome should consult a geneticist before planning another pregnancy. The same should be done if relatives of a couple who are going to have children are diagnosed with a syndrome.

Prevention

Gilbert's disease results from a defect in an inherited gene. It is impossible to prevent the development of the syndrome, since parents can only be carriers and they do not show signs of deviations. For this reason, the main preventive measures are aimed at preventing exacerbations and prolonging the period of remission. This can be achieved by eliminating the factors that provoke pathological processes in the liver.

- a genetically determined disorder of bilirubin metabolism, resulting from a defect in microsomal liver enzymes and leading to the development of benign unconjugated hyperbilirubinemia. Most cases of Gilbert's syndrome present with intermittent jaundice. varying degrees severity, heaviness in the right hypochondrium, dyspeptic and asthenovegetative disorders; the appearance of subfebrile condition, hepatomegaly, xanthelasma of the eyelids is possible. The diagnosis of Gilbert's syndrome is confirmed by the data of the clinical picture, family history, laboratory and instrumental studies, functional tests. With Gilbert's syndrome, compliance with the diet, intake of microsomal enzyme inducers, hepatoprotectors, choleretic herbs, enterosorbents, and vitamins are shown.

General information

Gilbert's syndrome (constitutional hyperbilirubinemia, non-hemolytic familial jaundice) is characterized by moderate increased level unconjugated bilirubin in the blood serum and visually manifested episodes of jaundice. Gilbert's syndrome is the most common form of hereditary hepatosis pigmentosa. In most cases, the clinical symptoms of Gilbert's syndrome appear at the age of 12-30 years. Their development in prepubertal and pubertal children is associated with the inhibitory effect of sex hormones on the utilization of bilirubin. Gilbert's syndrome is prevalent predominantly among males. The incidence of Gilbert's syndrome in the European population ranges from 2 to 5%. Gilbert's syndrome does not lead to fibrosis and liver dysfunction, but is a risk factor for gallstone disease.

Causes of Gilbert's syndrome

The bile pigment bilirubin, which is formed during the breakdown of erythrocyte hemoglobin, is present in the blood serum in the form of two fractions: direct (bound, conjugated) and indirect (free) bilirubin. Indirect bilirubin has cytotoxic properties, which is most noticeable on brain cells. In the liver cells, indirect bilirubin is neutralized by conjugation with glucuronic acid, enters the biliary tract and, in the form of intermediate compounds, is excreted from the body through the intestines and in a small amount in the urine.

Violation of the utilization of bilirubin in Gilbert's syndrome is caused by a mutation in the gene encoding the microsomal enzyme UDP-glucuronyltransferase. Inferiority and a partial decrease in the activity of UDP-glucouronyltransferase (up to 30% of the norm) leads to the inability of hepatocytes to absorb and eliminate the required amount of indirect bilirubin. There is also a violation of the transport and capture of indirect bilirubin by liver cells. As a result, in Gilbert's syndrome, the level of unconjugated bilirubin in the blood serum increases, which leads to its deposition in the tissues and staining them yellow.

Gilbert's syndrome refers to a pathology with an autosomal dominant type of inheritance, for the development of which it is enough for a child to inherit a mutant gene variant from one of the parents.

Clinical manifestations of Gilbert's syndrome can be triggered by prolonged fasting, dehydration, physical and emotional overstrain, menstruation (in women), infectious diseases(viral hepatitis, influenza and SARS, intestinal infections), surgical interventions, as well as the intake of alcohol and certain drugs: hormones (glucocorticoids, androgens, ethinyl estradiol), antibiotics (streptomycin, rifampicin, ampicillin), sodium salicylate, paracetamol, caffeine.

Symptoms of Gilbert's syndrome

There are 2 variants of Gilbert's syndrome: "congenital" - manifested without previous infectious hepatitis (most cases) and manifesting after acute viral hepatitis. Moreover, posthepatitis hyperbilirubinemia can be associated not only with the presence of Gilbert's syndrome, but also with the transition of the infection to a chronic form.

The clinical symptoms of Gilbert's syndrome usually develop in children aged 12 years and older, the course of the disease is undulating. Gilbert's syndrome is characterized by intermittent jaundice of varying severity - from subicteric sclera to bright yellowness of the skin and mucous membranes. Icteric staining can be diffuse or appear partially in the region of the nasolabial triangle, on the skin of the feet, palms, and armpits. Episodes of jaundice in Gilbert's syndrome occur suddenly, intensify after exposure to provoking factors and resolve on their own. In newborns, the symptoms of Gilbert's syndrome may resemble transient jaundice. In some cases, with Gilbert's syndrome, single or multiple xanthelasmas of the eyelids may occur.

Most patients with Gilbert's syndrome complain of heaviness in the right hypochondrium, a feeling of discomfort in the abdominal cavity. There are asthenovegetative disorders (fatigue and depression, poor sleep, sweating), dyspeptic symptoms (lack of appetite, nausea, belching, flatulence, stool disorders). In 20% of cases of Gilbert's syndrome, there is a slight increase in the liver, in 10% of the spleen, cholecystitis, dysfunction of the gallbladder and sphincter of Oddi may occur, and the risk of developing cholelithiasis increases.

Approximately one third of patients with Gilbert's syndrome have no complaints. With the insignificance and inconstancy of the manifestations of Gilbert's syndrome, the disease may go unnoticed for patients for a long time. Gilbert's syndrome can be combined with connective tissue dysplasia - often found in Marfan and Ehlers-Danlos syndromes.

Diagnosis of Gilbert's syndrome

The diagnosis of Gilbert's syndrome is based on the analysis clinical manifestations, family history data, results laboratory research(general and biochemical analysis blood, urine, PCR), functional tests (test with fasting, tests with phenobarbital, nicotinic acid), ultrasound of the abdominal organs.

When collecting an anamnesis, the gender of the patient, the age of onset clinical symptoms, the presence of episodes of jaundice in the next of kin, the presence of chronic diseases that cause jaundice. On palpation, the liver is painless, the consistency of the organ is soft, there may be a slight increase in the size of the liver.

The level of total bilirubin in Gilbert's syndrome is increased due to its indirect fraction and ranges from 34.2 to 85.5 µmol/l (usually not more than 51.3 µmol/l). Other biochemical liver tests (total protein and protein fractions, AST, ALT, cholesterol) in Gilbert's syndrome, as a rule, are not changed. Decrease in the level of bilirubin while taking phenobarbital and its increase (by 50-100%) after fasting or low calorie diet, and also after intravenous administration nicotinic acid confirm the diagnosis of Gilbert's syndrome. PCR method in Gilbert's syndrome, it allows to identify the polymorphism of the gene encoding the enzyme UDFGT.

To clarify the diagnosis of Gilbert's syndrome, ultrasound of the abdominal organs, ultrasound of the liver and gallbladder, duodenal sounding, thin layer chromatography are performed. Percutaneous puncture liver biopsy is performed only if there are indications to exclude chronic hepatitis and liver cirrhosis. With Gilbert's syndrome in liver biopsy pathological changes not found.

Gilbert's syndrome is differentiated from chronic viral hepatitis and posthepatic persistent hyperbilirubinemia, hemolytic anemia, Crigler-Najjar type II syndrome, Dubin-Johnson syndrome and Rotor syndrome, primary shunt hyperbilirubinemia, congenital cirrhosis of the liver, atresia of the bile ducts.

Treatment of Gilbert's syndrome

Children and adults with Gilbert's syndrome usually do not need special treatment. The main importance is given to the observance of the diet, work and rest. With Gilbert's syndrome, professional sports, insolation, alcohol intake, fasting, fluid restriction, and the use of hepatotoxic drugs are undesirable. A diet is shown with a restriction of foods containing refractory fats (fatty meats, fried and spicy foods), and canned food.

With an exacerbation of the clinical manifestations of Gilbert's syndrome, a sparing table No. 5 and microsomal enzyme inducers - phenobarbital and zixorin (1-2 week courses with an interval of 2-4 weeks) are prescribed, which help to reduce the level of bilirubin in the blood. Taking activated charcoal, which absorbs bilirubin in the intestines, and phototherapy, which accelerates the destruction of bilirubin in tissues, help to remove it from the body faster.

For the prevention of cholecystitis and gallstone disease in Gilbert's syndrome, it is recommended to take choleretic herbs, hepatoprotectors (ursosan, ursofalk), Essentiale, Liv-52, choleretics (cholagol, allochol, holosas) and B vitamins.

Forecast and prevention of Gilbert's syndrome

The prognosis of the disease at any age is favorable. Hyperbilirubinemia in patients with Gilbert's syndrome persists for life, but wears benign character, is not accompanied by progressive changes in the liver and does not affect life expectancy.

Before planning a pregnancy, couples with a history of this pathology need to consult a medical geneticist in order to assess the risk of developing Gilbert's syndrome in offspring. Gilbert's syndrome in children is not a reason to refuse