Gilbert's syndrome is dangerous. How dangerous is Gilbert's syndrome and what is it in simple words? Treatment in pregnant women and children

Gilbert's syndrome (familial jaundice, pigmentary hepatosis) is a benign condition characterized by an episodic, moderate increase in the concentration of bilirubin in the blood.

The disease is directly related to a gene defect that is inherited. The disease does not lead to severe liver damage, but since it is based on a violation of the synthesis of the enzyme responsible for neutralizing toxic substances, complications associated with inflammation of the bile ducts and the formation of gallstones may develop.

Gilbert's syndrome - what is it in simple words

To understand the essence of the pathology, it is necessary to dwell in more detail on the functions of the liver. In a healthy person, this organ performs well the basic filtering functions, that is, it synthesizes bile, which is necessary for the breakdown of proteins, fats and carbohydrates, and participates in metabolic processes, neutralizes and removes toxic substances from the body.

With Gilbert's syndrome, the liver is not able to fully process and remove the toxic bile pigment bilirubin from the body. This is due to insufficient production of a specific enzyme responsible for its neutralization. As a result, free bilirubin accumulates in the blood and stains the sclera of the eyes and skin. yellow Therefore, the disease is colloquially called chronic jaundice.

Gilbert's syndrome is a hereditary disease, a defect in the gene responsible for the correct metabolism of the bile pigment bilirubin. The course of the disease is accompanied by the periodic occurrence of moderate jaundice, but liver tests and other biochemical blood parameters remain normal. The hereditary disease is more often diagnosed in men and first appears in adolescence and young adulthood, which is associated with changes in bilirubin metabolism under the influence of sex hormones. In this case, the symptoms of the disease occur periodically throughout life. Gilbert's syndrome - ICD 10 has code K76.8 and refers to specified liver diseases with an autosomal dominant type of inheritance.

Causes

Genetic Gilbert's syndrome occurs only in those patients who received from both parents a defective gene responsible for the formation of a specific liver enzyme. As a result, the content of this enzyme is reduced to 80% and it simply cannot cope with the transformation of toxic waste. direct bilirubin to a related faction. At the same time, the severity of the genetic defect and the duration of periods of exacerbation can be different, it all depends on the number of insertions of two extra amino acids in the location of a specific liver enzyme.

Scientists note that Gilbert's syndrome does not arise out of nowhere; its development requires a push that triggers the mechanism for the development of the disease. Such provoking factors include:

• unbalanced diet with a predominance of heavy, fatty foods;
• alcohol abuse;
• long-term use some medications(antibiotics, caffeine, drugs from the NSAID group);
• treatment with glucocorticosteroid drugs;
• taking anabolic steroids;
• following strict diets, fasting (even for medical purposes);
• previous surgical interventions;
• excessive physical activity;
• nervous tension, chronic stress, depressive states.

Clinical symptoms of the disease can be provoked by dehydration (dehydration of the body) or infectious diseases (influenza, ARVI), intestinal disorders.

Symptoms of Gilbert's syndrome

The general condition of patients with Gilbert's syndrome is usually satisfactory. Symptoms of the disease appear periodically, under the influence of provoking factors. The main signs of the disease are:

• icteric syndrome to varying degrees intensity;
• weakness, fast fatiguability with minimal physical activity;
• sleep disorders - it becomes restless, intermittent;
• the formation of single or multiple yellow plaques (xanthelasma) in the eyelid area.

When the concentration of bilirubin in the blood increases, the whole body, or certain areas of the skin in the area of ​​the nasolabial triangle, feet, palms, may turn yellow. armpits. Yellowness of the eyes occurs when bilirubin levels decrease. The severity of jaundice also varies - from slight yellowing of the sclera to bright yellowness skin.

Other conditional signs of the disease that do not always appear include:

• heaviness in the right hypochondrium;
• feeling of discomfort in abdominal cavity;
• increased sweating;
• attacks of headache, dizziness;
• lethargy, apathy, or, on the contrary, irritability and nervousness;
• severe skin itching;
• bloating, flatulence, belching, bitterness in the mouth;
• bowel disorders (diarrhea or constipation).

The genetic disease has some peculiarities of its course. Thus, in every fourth patient with Gilbert's syndrome, an enlarged liver is observed, with the organ protruding from under the costal arch, but its structure is normal, and pain on palpation is not felt. 10% of patients have an enlarged spleen and accompanying pathologies– dysfunction of the biliary system, cholecystitis. In 30% of patients, the disease is practically asymptomatic, there are no complaints and the disease can go undetected for a long time.

Why is Gilbert's syndrome dangerous?

The yellow color of the skin and sclera in Gilbert's syndrome is determined by an excess of the bile pigment bilirubin. This is a toxic substance that is formed during the breakdown of hemoglobin. IN healthy body bilirubin in the liver binds to the glucoronic acid molecule and in this form no longer poses a danger to the body.

If the liver does not produce enough of a specific enzyme that neutralizes free bilirubin, its concentration in the blood increases. The main danger of unconjugated bilirubin is that it is highly soluble in fats and is able to interact with phospholipids in cell membranes, exhibiting neurotoxic properties. First of all, it suffers from the influence of a toxic substance nervous system and brain cells. Together with the bloodstream, bilirubin is distributed throughout the body and causes dysfunction. internal organs, negatively affecting the functioning of the liver, biliary and digestive system.

Patients with Gilbert's syndrome experience deterioration of liver function and increased sensitivity organ to the influence of hepatotoxic factors (alcohol, antibiotics). Frequent exacerbations of the disease lead to the development of inflammatory processes in the biliary system, the formation of gallstones and cause poor health, decreased performance and deterioration in the patient’s quality of life.

Diagnostics

When making a diagnosis, the doctor must rely on the results of laboratory and instrumental studies, take into account the main clinical symptoms and family history data - that is, find out whether close relatives suffered from liver disease, jaundice, or alcoholism.

During the examination, mucous membranes are also revealed, pain in the right hypochondrium, and a slight increase in the size of the liver. The doctor takes into account the gender and age of the patient, clarifies when the first signs of the disease appeared, finds out whether there are concomitant chronic diseases, causing jaundice. After the examination, the patient must undergo a series of tests.

General and bio chemical analysis blood test for Gilbert's syndrome will help determine increased levels total bilirubin due to its free, indirect fraction. A value of up to 85 µmol/l will indicate the development of Gilbert's syndrome. At the same time, other indicators - protein, cholesterol, AST, ALT - remain within normal limits.

- changes in electrolyte balance are absent, the appearance of bilirubin will indicate the development of hepatitis, while the urine becomes the color of dark beer.

Analysis of feces for stercobilin allows us to determine the presence of this end product of the conversion of bilirubin.

PCR method - the study is aimed at identifying a genetic defect in the gene responsible for the processes of bilirubin metabolism.

Rimfacin test - administration of 900 mg of antibiotic to a patient causes an increase in the level of indirect bilirubin in the blood.

Markers for hepatitis B, C, D viruses are not detected in Gilbert's syndrome.

Specific tests will help confirm the diagnosis:

• phenobarbital test - while taking phenobarbital, the level of bilirubin decreases;
• test with nicotinic acid - with intravenous administration of the drug, the concentration of bilirubin increases several times within 2-3 hours.
• fasting test - against the background of a low-calorie diet, an increase in bilirubin levels by 50-100% is observed.

Instrumental research methods:

• Ultrasound of the abdominal cavity;
• Ultrasound of the liver, gall bladder and ducts;
• duodenal intubation;
• study of the liver parenchyma by radioisotope method.

A liver biopsy is performed only when there is suspicion of chronic hepatitis and cirrhosis of the liver.

Genetic analysis is considered the fastest and most effective. Homozygous Gilbert's syndrome can be determined using DNA diagnostics with the study of the UDFGT gene. The diagnosis is confirmed when the number of TA repeats (2 nucleic acids) in the promoter region of the defective gene reaches 7 or exceeds this figure.

Before starting therapy, experts recommend that a genetic test for Gilbert's syndrome be carried out to ensure correct positioning diagnosis, since medications with hepatotoxic effects are used in the treatment of the disease. If the diagnostician makes a mistake, the liver will be the first to suffer from such treatment.

Treatment of Gilbert's syndrome

The doctor selects a treatment regimen taking into account the severity of symptoms, the general condition of the patient and the level of bilirubin in the blood.

If the indirect fraction of bilirubin does not exceed 60 µmol/l, the patient has only mild jaundice of the skin and there are no symptoms such as changes in behavior, nausea, vomiting, drowsiness - drug treatment is not prescribed. The basis of therapy is lifestyle adjustments, adherence to work and rest schedules, and limitation of physical activity. The patient is recommended to increase fluid intake and follow a diet that excludes the consumption of fatty, spicy, fried foods, refractory fats, canned food, and alcohol.

At this stage, the use of sorbents (activated carbon, Polysorb, Enterosgel) and phototherapy methods are practiced. Insolation with blue light allows free bilirubin to pass into the water-soluble fraction and leave the body.

If the bilirubin level increases to 80 µmol/l or higher, the patient is prescribed Phenobarbital (Barboval, Corvalol) at a dosage of up to 200 mg per day. The duration of treatment is 2-3 weeks. The diet becomes more strict. The patient must completely exclude the following from the diet:

• canned, spicy, fatty, heavy foods;
• baked goods, sweets, chocolate;
• strong tea and coffee, cocoa, any types of alcohol.

The emphasis in nutrition is on dietary varieties meat and fish, porridge, vegetarian soups, fresh vegetables and fruits, biscuits, sweet juices, fruit drinks, compotes, low-fat fermented milk drinks.

If the bilirubin level continues to increase, there is a deterioration in the condition, and the patient needs to be hospitalized. In a hospital setting, the treatment regimen includes:

• hepatoprotectors to maintain liver functions;
• intravenous administration of polyionic solutions;
• taking sorbents;
• taking enzymes that improve digestion;
• lactulose-based laxatives that accelerate the elimination of toxins (Normaze, Duphalac).

In severe cases, albumin is given intravenously or a blood transfusion is given. At this stage, the patient’s diet is strictly controlled; all products containing animal fats and protein (meat, fish, eggs, cottage cheese, butter, etc.) are removed from it. The patient is allowed to eat fresh fruit and vegetables, eat vegetarian vegetable soups, cereals, biscuits, low-fat dairy products.

During periods of remission, when acute symptoms there are no diseases, a course of maintenance therapy is prescribed aimed at restoring the functions of the biliary system and preventing the formation of stones. For this purpose, it is recommended to take Gepabene, Ursofalk or herbal decoctions with choleretic effect. There are no strict restrictions on the diet during this period, but the patient should avoid drinking alcohol and foods that can cause an exacerbation of the disease.

Periodically, twice a month, it is recommended to do blind probing (tubage). The procedure is necessary to remove stagnant bile; it consists of taking xylitol or sorbitol on an empty stomach. After this, you should lie down with a warm heating pad on your right side for half an hour. It is better to do the procedure on a day off, as it is accompanied by the appearance loose stool And frequent hikes to the toilet.

Military service

Many young people are interested in whether people with Gilbert's syndrome are accepted into the army. According to the disease schedule, which details the health requirements of conscripts, patients with genetic jaundice are called up for urgent military service. This diagnosis is not a basis for deferment or exemption from conscription.

But at the same time, a reservation is made according to which the young man must be provided with special conditions of service. A conscript with Gilbert's syndrome should not starve, undergo heavy physical activity, and eat only healthy foods. In practice, in army conditions, it is almost impossible to fulfill these requirements, since all the necessary regulations can only be provided at headquarters, where it is difficult for an ordinary soldier to get to.

At the same time, the diagnosis of Gilbert's syndrome serves as a basis for refusal of admission to higher military institutions. That is, young people are considered unfit for professional service in the Armed Forces and medical commission does not allow them to take entrance exams.

Folk remedies

Genetic jaundice is one of the diseases for which the use of folk remedies is welcomed by many specialists. Here are some popular recipes:

Combined mixture

The medicinal composition is prepared from an equal volume of honey and olive oil(500ml each). 75 ml is added to this mixture apple cider vinegar. The composition is thoroughly mixed, poured into a glass container, and stored in the refrigerator. Before use, stir with a wooden spoon and take 15-20 drops 20 minutes before meals. Symptoms of jaundice subside on the third day of treatment, but the mixture must be taken for at least a week to consolidate the positive result.

Burdock juice

The leaves of the plant are collected in May, during the flowering period, it is at this time that they contain greatest number useful substances. Burdock stems in fresh pass through a meat grinder, squeeze out the juice using gauze, dilute it in half with water and take 1 tsp. before meals for 10 days.

In general, the prognosis for Gilbert's syndrome is favorable, since this condition is considered one of the normal variants. Specific prevention there is no syndrome, since the disease is caused by a genetic factor. But a healthy lifestyle and proper nutrition help avoid exacerbations and promptly relieve unpleasant symptoms.

Gilbert's syndrome is a chronic hereditary disease. His symptoms were first recorded by the French gastroenterologist O.N. Gilbert. The risk group includes men aged about 20 years. The disease does not cause pathological changes liver, but causes changes in skin color, nervous disorders, and increased fatigue. Treatment of the disease comes down to daily consumption healthy food, as well as taking medications that reduce the level of bilirubin in the blood.

Gilbert's syndrome: what is it in simple words

The genetic disease is a type of pigmentary hepatosis. The disease is inherited and first appears no earlier than 20 years of age. Apart from yellowing of the skin and sclera of the eyes, there are practically no other symptoms. People attribute increased fatigue to lack of rest.

The provoking factor for jaundice is indirect bilirubin.

The mechanism of formation and excretion of bilirubin is normal:

1. In the liver, spleen, and bone marrow, old erythrocytes (red blood cells) are destroyed. Indirect bilirubin (bile pigment) is formed from the breakdown product.
2. With the blood, this substance is sent to the liver, where it is bound by glucuronic acid molecules. The bile pigment is neutralized.
3. Bilirubin is excreted from the body in urine and bile.

If the liver does not have time to process all the toxic bile pigment, it is captured by its cells and accumulates in the blood. A person's skin, stool and urine color changes.

Causes of the disease

Gilbert's disease is transmitted through the maternal and paternal lines. Its initial cause is a mutation in the gene responsible for the formation of the enzyme (glucuronyltransferase), which is involved in the process of converting indirect bilirubin into direct bilirubin.

Gilbert's syndrome in children whose parents have defective genes can appear immediately after birth or in adulthood under the influence of provoking factors. These are factors such as unhealthy diet, fasting, alcohol abuse, long-term use of hormonal medications, previous infectious diseases, chronic fatigue.

Symptoms of Gilbert's syndrome

The main symptom of Gilbert's syndrome is yellowing of the skin and whites of the eyes. Similar symptoms may occur after a cold or severe physical work, in women - against the background of a diet for rapid weight loss, after heavy menstruation. Additional symptoms rarely occur. With a long course of pathology, a person constantly feels tired. The condition is accompanied by anxiety and irritability.

With this syndrome there are no signs of chronic hepatitis: itching, constant feeling heaviness in the right hypochondrium, enlarged liver.

Diagnostics

Making a diagnosis includes the following measures:

• Collecting anamnesis, identifying external clinical symptoms of the syndrome.
• General blood and urine tests - the results help confirm or refute inflammation of the internal organs. The presence of urobilinogen in the urine usually indicates pathological changes in the liver (increase in size, proliferation of connective tissue).
• Biochemical analysis - to determine the level of indirect bilirubin, digestive enzymes in blood.
• Fasting test. The patient follows a diet of 400 kcal per day for two days in a row. At the beginning of the diet and at its completion, blood is taken for analysis and the indicators are compared. If the bile pigment indicator increases by 60 percent or more during a low-calorie diet, the test is considered positive.
• Test with phenobarbital. A drug with an anticonvulsant effect is taken to stimulate the activity of the glucuronyl transferase enzyme. If bilirubin in the blood returns to normal, then Gilbert's disease is to blame.
• Vitamin PP (niacin) test. The drug is administered intravenously to reduce the osmotic resistance of red blood cells, against the background of which they are destroyed earlier, resulting in the appearance of increased bilirubin. If the level of bile pigment has increased by 25 percent or more, the test is considered positive.
• Examination of stool for stercobilin (bile pigment). If the normal values ​​(norm from 1 year 75-350 mg/day) deviate upward, the result is considered positive.

Venous blood can be donated for Gilbert's syndrome at any time of the day without preparation for the procedure. In an infant, blood is taken from the heel for analysis (heel test).

Treatment for Gilbert's syndrome

When asked how to treat genetic disease, the answer lies in healthy way life. There is no specific treatment for the disease.

Organization is important proper nutrition, work and rest regime.

In case of liver syndrome, the following must be excluded from the usual menu:

• fresh bread, baked goods;
• spicy, fried, salted and smoked dishes;
• alcohol;
• greenery;
• ice cream, sweet cream, chocolate;
• products containing dyes, raising agents, stabilizers and preservatives.

In the list of permitted products:

• lean fish - bream, pike perch, carp, cod;
• dietary meat for cutlets and meatballs - rabbit, chicken, turkey, young veal;
• chicken, quail eggs(not fried);
• cereal soups with vegetable broth;
• oatmeal porridge, buckwheat, rice, wheat cereal;
• rye or wheat yesterday's bread;
• fruits, berries of non-acidic varieties;
• dairy products with a low fat content;
• vegetable and butter (no more than 50 g/day);
• tea, juices, dried fruit compote, still water.

To improve your well-being, it is not enough just to eat right. The patient needs to radically change his lifestyle. He should stop doing intense activities. sports training, quit smoking. It is important to avoid physical or mental stress.

Drug therapy

cure genetic disease You can’t, but you can remove its symptoms. Patients are prescribed therapy with sorbents (Polysorb, Enterosgel), Phenobarbital. When the bilirubin level reaches 80 µmol/l, the patient is prescribed intravenous crystalloid formulations. They improve health already during the procedure.

Traditional methods

For Gilbert's disease will benefit herbal teas with choleretic, hepatoprotective, absorbent effect:

• Place 1 tbsp in an enamel container. l. celandine, chamomile, dandelion root, 2 tbsp. l. tansy, rosehip and mint.
• Pour 3 liters of plain water and boil.
• Cook over low heat for 10 minutes.
• In a day ready-made product strain.
• Pour into glass bottle. Store in the refrigerator.

How to take: drink 100 ml 3 times a day 20 minutes before meals to normalize the volume of bile pigment in the blood.

Juice therapy helps improve the health of a person with Gilbert's disease:

• Squeeze half a liter of juice from beets, 50 ml from agave, 200 ml from carrots and black radish.
• Add 0.5 kg to fresh natural honey, to stir thoroughly. Store in the refrigerator.

In order to quickly normalize the level of bilirubin in the blood, the medicine should be taken 2 tbsp. l. 30 minutes before meals three times a day.

Why is Gilbert's syndrome dangerous?

Frequent exacerbation of the disease is dangerous due to inflammation of the bile ducts and cholelithiasis. If left untreated, these pathologies can cause pancreatitis and deteriorate the functioning of the digestive system. In any case, increased bilirubin in Gilbert's syndrome is not a reason to say goodbye to life. Symptoms are well relieved with prescribed treatment.

Other types of hepatosis

Gilbert's disease is more common in clinical practice hepatologists than Dubin-Johnson and Rotor syndromes. Dubin-Johnson syndrome - rare form pigmentary hepatosis. It manifests itself as yellowing of the skin and sclera of the eyes, a change in the color of the liver to brown-black or green-gray. The structure of the organ remains unchanged. The disease is caused by a violation of the removal of conjugated bilirubin from the body. Rotor syndrome - light form Dubin-Johnson disease.

Prognosis and prevention

Genetic disease has successful outcome. People with this syndrome live to a ripe old age if:

• eat right;
• avoid stress;
• do not overexert themselves physically;
• all diseases are treated in a timely manner;
• They visit a hepatologist several times a year.

If a woman planning to give birth to a child is diagnosed with Gilbert, she must inform the doctors antenatal clinic. At this syndrome specialists will ensure a favorable course of pregnancy by normalizing bilirubin.

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The appearance of a yellow tint to the skin or eyes after a feast with a wide variety of food and alcoholic drinks can be detected by a person himself or at the prompting of others. Such a phenomenon will most likely be a symptom of a rather unpleasant and dangerous disease- Gilbert's syndrome.

A doctor (of any specialization) may suspect the same pathology if a patient comes to see him with yellowish tint skin or during the examination he took liver tests.

What is Gilbert's syndrome

The disease in question is chronic liver pathology benign in nature, which is accompanied by periodic yellow discoloration of the skin and sclera of the eyes and other symptoms. The course of the disease is wave-like - for a certain period of time a person does not feel any deterioration in health at all, and sometimes all the symptoms of pathological changes in the liver appear - this usually happens when regular use fatty, spicy, salty, smoked foods and alcoholic drinks.

Gilbert's syndrome is associated with a gene defect that is passed from parents to children. In general, this disease does not lead to severe changes in the structure of the liver, as, for example, with progressive cirrhosis, but it can be complicated by the formation of gallstones or inflammatory processes in the liver. bile ducts.

There are experts who do not consider Gilbert's syndrome a disease at all, but this is somewhat erroneous. The fact is that with this pathology there is a disruption in the synthesis of an enzyme involved in the neutralization of toxins. If an organ loses some of its functions, then this condition is called a disease in medicine.

The yellow color of the skin in Gilbert's syndrome is the effect of bilirubin, which is formed from hemoglobin. This substance is quite toxic and the liver, during normal functioning, simply destroys it and removes it from the body. If Gilbert's syndrome progresses, filtration of bilirubin does not occur; it enters the blood and spreads throughout the body. Moreover, when it gets into internal organs, it is able to change their structure, which leads to dysfunction. It is especially dangerous if bilirubin “gets” to the brain - the person simply loses some of his functions. We hasten to reassure you - with the disease in question, such a phenomenon is never observed at all, but if it is complicated by any other liver pathology, then it is almost impossible to predict the “path” of bilirubin in the blood.

Gilbert's syndrome is a fairly common disease. According to statistics, this pathology is more often diagnosed in men, and the disease begins to develop in adolescence and middle age – 12-30 years.

Causes of Gilbert's syndrome

This syndrome occurs only in people who have “inherited” from both parents a defect of the second chromosome in the location responsible for the formation of one of the liver enzymes. This defect makes the percentage of this enzyme content 80% less, so it simply cannot cope with its task (converting indirect bilirubin, which is toxic to the brain, into a bound fraction).

It is noteworthy that such genetic defect may be different - in a location there is always an insertion of two extra amino acids, but there can be several such insertions - the severity of Gilbert's syndrome depends on their number.

For liver enzyme synthesis big influence It has male hormone androgen, therefore the first signs of the disease in question appear in adolescence, when puberty, hormonal changes. By the way, it is precisely because of the influence of androgen on the enzyme that Gilbert's syndrome is more often diagnosed in men.

An interesting fact is that the disease in question does not manifest itself “on empty space“, a push for the appearance of symptoms is definitely needed. And such provoking factors can be:

• drinking alcohol frequently or in large doses;
• regular use of certain medications - streptomycin, paracetamol, rifampicin;
• recently held surgical interventions for any reason;
• frequent, chronic fatigue;
• undergoing treatment with glucocorticosteroids;
• frequent consumption of fatty foods;
• long-term use of anabolic drugs;
• excessive physical activity;
• fasting (even for medical purposes).

note:these factors can trigger the development of Gilbert's syndrome, but can also influence the severity of the disease.

Classification

Gilbert's syndrome in medicine is classified as follows:

1. Presence of hemolysis- additional destruction of red blood cells. If the disease in question occurs simultaneously with hemolysis, the level of bilirubin will be increased initially, although this is not typical for the syndrome.
2. Presence of viral. If a person with two defective chromosomes carries viral hepatitis, then the symptoms of Gilbert's syndrome will appear before the age of 13.

Clinical picture

The symptoms of the disease in question are divided into two groups - mandatory and conditional. Mandatory manifestations of Gilbert's syndrome include:

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

Conditional symptoms that may not be present:

• heaviness is felt in the right hypochondrium, regardless of food intake;
• and dizziness;
• apathy, irritability – disturbances of the psycho-emotional background;
• pain in muscle tissue;
• severe itching of the skin;
• periodic trembling of the upper limbs;
• increased sweating;
• bloating, nausea;
• stool disorders - patients are worried.

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

How is Gilbert's syndrome diagnosed?

Of course, the doctor will not be able to make an accurate diagnosis, but even with external changes skin, the development of Gilbert's syndrome can be assumed. A blood test for bilirubin levels can confirm the diagnosis - it will be elevated. And against the background of such an increase, all other liver function tests will be within normal limits - albumin level, alkaline phosphatase, enzymes indicating liver tissue damage.

With Gilbert's syndrome, other internal organs are not affected - this will also be indicated by urea, creatinine and amylase levels. There are no bile pigments in the urine, and there will be no changes in the electrolyte balance.

The doctor can indirectly confirm the diagnosis using specific tests:

• phenobarbital test;
• fasting test;
• nicotinic acid test.

The final diagnosis is made based on the results of the analysis for Gilbert's syndrome - the patient's DNA is examined . But even after this, the doctor conducts some more examinations:

Treatment of Gilbert's syndrome

The attending physician will decide in what way and whether it is necessary to carry out treatment at all for the disease in question - it all depends on the general condition of the patient, on the frequency of periods of exacerbations, on the duration of the stages of remission and other factors. Very important point– level of bilirubin in the blood.

Up to 60 µmol/l

If at this level of bilirubin the patient feels within normal limits, there is no increased fatigue and drowsiness, and only slight yellowness of the skin is noted, then drug treatment not prescribed. But doctors may recommend the following procedures:

Above 80 µmol/l

In this case, the patient is prescribed Phenobarbital at a dose of 50-200 mg per day for 2-3 weeks. Considering the fact that this drug has a hypnotic effect, the patient is prohibited from driving a car and going to work. Doctors may recommend and medications Barboval or Valocordin - they contain phenobarbital in small doses, so they do not have such a pronounced hypnotic effect.

When bilirubin in the blood is above 80 µmol/l, a strict diet is prescribed when Gilbert's syndrome is diagnosed. It is allowed to eat:

• fermented milk products and cottage cheese with low level fat content;
• skinny fish and lean meat;
• non-acidic juices;
• biscuits;
• fresh, baked or boiled vegetables and fruits;
• dried bread;
• sweet tea and .

Hospital treatment

If in the two cases described above, treatment of a patient with Gilbert's syndrome takes place on an outpatient basis under the supervision of a doctor, then if too high level bilirubin, insomnia, decreased appetite, nausea will require hospitalization. Bilirubin is reduced in the hospital using the following methods:

The patient's diet is adjusted radically - animal proteins (meat products, eggs, cottage cheese, offal, fish), vegetables, fresh fruits and berries and fats are completely excluded from the menu. It is allowed to eat only soups without frying, bananas, fermented milk products with a minimum level of fat content, baked apples, biscuits.

Remission

Even if remission has occurred, patients should under no circumstances “relax” - care must be taken to ensure that another exacerbation of Gilbert’s syndrome does not occur.

Firstly, you need to protect the bile ducts - this will prevent stagnation of bile and the formation of stones in the gall bladder. A good choice for such a procedure would be choleretic herbs, the drugs Urocholum, Gepabene or Ursofalk. Once a week the patient should do “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 anatomical location gallbladder with a heating pad for half an hour.

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

Doctors' forecasts

In general, Gilbert's syndrome proceeds quite well and is not the cause of the patient's death. Of course, there will be some changes - for example, with frequent exacerbations, an inflammatory process may develop in the bile ducts, and stones may form in the gall bladder. This negatively affects the ability to work, but is not a reason to register disability.

If a family has a child with Gilbert's syndrome, then before next pregnancy parents must go genetic testing. The couple needs to undergo the same examinations if one of the spouses has this diagnosis or there are obvious symptoms of it.

Gilbert's syndrome and military service

As for military service, Gilbert's syndrome is not a reason to receive a deferment or a ban on emergency service. The only warning is that a young man should not physically overexert himself, go hungry, or work with toxic substances. But if the patient is going to build a professional military career, then he is not allowed to do so - he simply will not pass the medical examination.

Preventive measures

It is impossible to somehow prevent the development of Gilbert's syndrome - this disease occurs at the level of genetic abnormalities. But you can do it preventive measures in relation to the frequency of exacerbations and intensity of manifestations of this disease. These measures include the following recommendations from experts:

Gilbert's syndrome is not a dangerous disease, but it requires some restrictions. Patients must be monitored by a doctor, undergo regular examinations and follow all medication prescriptions and recommendations of specialists.

Tsygankova Yana Aleksandrovna, medical observer, therapist of the highest qualification category

The disease is genetic and cannot be cured. It can manifest itself throughout life. However, exacerbations and a clear clinical picture of the syndrome are most often observed in children 5-15 years old.

The only reason for the occurrence of Gilbert's syndrome in a child is the transmission of a mutation gene from one of the parents. The DNA abnormality leads to a decrease in the liver enzyme, which is responsible for the breakdown and utilization of bilirubin.

In children, the following factors can provoke a serious decrease in liver enzyme, and along with it the symptoms of the disease can appear:

• dehydration of the body,
• poor nutrition or prolonged fasting,
• the presence of viral infections,
• fragile children's immunity,
• autoimmune disorders,
• physical and emotional fatigue,
• infection with viral hepatitis.

In children under 13 years of age, a period of exacerbation of the disease most often occurs against the background of hepatitis.

Symptoms

Gilbert himself (the doctor who discovered the disease) identifies a characteristic triad of hypobilirubinemia:

• yellowing of the skin and all visible mucous membranes of the child (such yellowness was called by the author “liver mask”),
• appearance of grain on upper eyelid also with jaundice - the so-called xanthelasm,
• The frequency of the disease is the alternation of periods of exacerbation and remission.

During the period of remission, the clinical picture is completely absent.

During an exacerbation, several signs of Gilbert's syndrome can be detected in a child:

• the appearance of jaundice,
• subferal body temperature,
• lowering blood pressure,
• heart pain,
• heart rhythm disturbance,
• difficulty breathing,
• general malaise,
• bitter taste in the mouth,
• nausea and vomiting mucus,
• stool disorder,
• flatulence and bloating,
• loss of appetite,
• dizziness,
• swelling of the limbs,
• itching of the skin,
• change of mood,
• sleep problems,
• pain in the abdomen, especially in the hypochondrium.

The disease in a child can be detected even during pregnancy planning or after conception. To do this, you need to consult a geneticist who will calculate the likelihood of the child having the syndrome.

Diagnosis of Gilbert's Syndrome in a child

External signs of the disease are not enough to diagnose accurate diagnosis. To confirm the diagnosis, it is necessary to undergo a range of various studies:

• general and biochemical blood test,
• genetic analysis of venous blood,
• general and chemical urine analysis,
• stool analysis,
• Ultrasound of the abdominal and pelvic organs,
• liver tomography,
• taking samples using biopsy.

As additional diagnostics The child may be prescribed tests:

• Fasting test. A child’s daily diet for two days should not exceed 400 kilocalories. After a two-day diet, the bilirubin level at positive result increases by 50-100%.
• Test with nicotinic acid. When it is introduced into the blood, there is an immediate jump in bilirubin levels.
• Test with phenobarbital. When taken orally, there is a significant decrease in the amount of free bilirubin.

Complications

Gilbert's syndrome in a child is a benign disease, that is, it does not pose a threat to the functionality of other internal organs and systems. However, in some cases, it is possible to develop diseases of the liver, kidneys, and gall bladder. The most dangerous is the development of renal failure, which acute form threatens death.

Treatment

What can you do

If one of the parents is a carrier of an abnormal gene, then the pediatrician should be informed about the possible presence of the disease in the child. At the same time, in the first months of life you should not refuse vaccinations against hepatitis and jaundice; they can be quite effective.

During an exacerbation of the disease, it is necessary to contact a specialist who, based on the results of the study, will be able to prescribe appropriate treatment.

Do not test the effectiveness on your child under any circumstances. traditional medicine. Only medical intervention can reduce symptoms clinical picture Gilbert's syndrome and quickly return it to a long-term stage of remission.

It is important to complete the course of drug therapy in full, in the appropriate dosage and duration. Only in this case can we talk about the effectiveness of treatment.

What does a doctor do

Gilbert's syndrome does not respond complete cure, it refers to benign diseases. For these reasons, treatment is prescribed only during the period of exacerbation of the disease to relieve symptoms.

Treatment consists of several points:

• drug treatment aimed at reducing free bilirubin in the blood,
• taking sorbents and enzymes that improve liver functionality,
• appointment choleretic drugs For speedy removal bilirubin from the body,
• vitamin therapy for general strengthening children's immunity,
• phototherapy.

Prevention

As such, there is no prevention of hypobilirunemia. If one of the parents has this disease, then during pregnancy planning you can contact a geneticist. A specialist will be able to tell you the likelihood of having an abnormal gene in children. However, you should not refuse vaccination, since a geneticist cannot give an absolute guarantee of the presence of an anomaly in a child’s body.

By following a number of rules, it is only possible to avoid exacerbation of the disease:

• varied diet, following a diet close to table No. 5,
• parents should stop smoking in front of their children,
• Do not expose your baby to overheating or hypothermia,
• Active rest, walks in the fresh air are important for a child,
• You should limit your baby’s exposure to the open sun,
• Avoid carbonated drinks and unnatural juices in tetra pack packaging.

You will also learn what can be dangerous untimely treatment the disease Gilbert's syndrome in children, and why it is so important to avoid the consequences. All about how to prevent Gilbert's syndrome in children and prevent complications.

And caring parents will find on the service pages complete information about the symptoms of Gilbert's syndrome in children. How do the signs of the disease in children aged 1, 2 and 3 differ from the manifestations of the disease in children aged 4, 5, 6 and 7? What is the best way to treat Gilbert's syndrome in children?

Take care of the health of your loved ones and stay in good shape!

Gilbert's syndrome is a rare hereditary liver disease that occurs in 2–5% of people. Moreover, men are more often affected than women. The disease does not lead to severe disorders liver function and fibrosis, but significantly increases the risk of cholelithiasis.

Gilbert's syndrome (constitutional liver dysfunction or familial non-hemolytic jaundice) refers to hereditary diseases. The culprit of the disease is a defective gene involved in the exchange of bilirubin. The disease is characterized by an increase in the concentration of bilirubin, in particular direct, in the blood and the periodic occurrence of jaundice.

Signs of this genetic pathology usually appear between the ages of 3 and 12 years and accompany a person throughout his life.

What happens when you get sick

In patients, the transport of bilirubin into liver cells (hepatocytes), its uptake by them, as well as the combination of direct bilirubin with glucuronic and other acids are disrupted. As a result, direct bilirubin circulates in the patient’s blood. It is a fat-soluble substance, so it interacts with phospholipids in cell membranes, particularly in the brain. This is what determines its neurotoxicity.

Causes of the disease

The only cause of the pathology is a mutation of the gene responsible for bilirubin metabolism. It is characterized by an autosomal dominant type of inheritance. This means that for a child to develop the disease, it is enough to inherit a defective gene from one of the parents.

Manifestations of the clinical picture of the disease are provoked by the following factors:

• dehydration;
• starvation;
• stress;
• physical overload;
• menstruation;
• infectious diseases (ARVI, viral hepatitis, influenza, intestinal infections);
• surgical interventions;
• consumption of alcohol, caffeine and certain medications;

Symptoms of Gilbert's syndrome

In most cases, the disease is asymptomatic, and many experts consider it as a physiological feature of the body.

The main, and in 50% of cases the only sign, is moderate yellowness of the sclera and mucous membranes, and less often of the skin. In this case, partial staining of the skin in the face, feet, palms, and armpits occurs. The skin takes on a dull yellow tint.

Yellowness of the sclera and skin is first detected in childhood or adolescence and is intermittent. In very rare cases, jaundice is always present.

Sometimes the disease may cause neurological symptoms in the form of:

• increased fatigue, weakness, dizziness;
• sleep disorders, insomnia.

Even less commonly, the disease is accompanied by digestive disorders:

• bitterness in the mouth;
• belching with bitterness after eating;
• decreased appetite;
• nausea, heartburn;
• bloating and heaviness in the stomach;
• constipation or diarrhea;
• liver enlargement, Blunt pain in the right hypochondrium.

Forms of the disease

There are 2 types of disease:

• congenital – the most common form;
• acquired – characterized by the manifestation of symptoms after viral hepatitis.

Complications of Gilbert's syndrome

In general, the disease does not cause unnecessary inconvenience to a person and proceeds favorably. But with systematic violation of the diet and the influence of provoking factors, the following complications may develop:

1. Persistent inflammation of the liver (chronic hepatitis).
2. Cholelithiasis.

Diagnosis of the disease

If symptoms of the disease appear, you should consult a physician or hepatologist. To confirm the diagnosis, the following activities are carried out:

1. Examination, collection of medical history and complaints.
2. General clinical analysis of urine and blood.
3. Biochemistry of blood.
4. Test with phenobarbital (the determining factor is the decrease in bilirubin concentration after taking phenobarbital).
5. Test with fasting (for 2 days, the patient’s nutrition is limited to 400 kilocalories per day. Blood is drawn twice - on the first day of the test and after fasting. If the difference in bilirubin levels is 50 - 100%, the diagnosis is confirmed).
6. Test with nicotinic acid (after intravenous injection nicotinic acid increases bilirubin).
7. DNA analysis of the responsible gene.
8. Stool test for stercobilin (in case of illness, the result is negative).
9. Ultrasound of the liver and gallbladder.

According to indications, the following examinations can be performed:

1. Study of protein and its fractions in blood serum.
2. Prothrombin test.
3. Blood test for markers of viral hepatitis.
4. Bromsulfalein test.
5. Liver biopsy.

Gilbert's syndrome must be differentiated from:

• hepatitis of various etiologies;
• hemolytic anemia;
• liver cirrhosis;
• Wilson-Konovalov disease;
• hemochromatosis;
• primary sclerosing cholangitis

Treatment of Gilbert's syndrome

People suffering from this disease do not need special treatment. Therapy is carried out during exacerbation of the disease. The basis of treatment is diet.

How to treat illness with diet

If the patient adheres to lifelong therapeutic diet and will refuse bad habits, symptoms of the disease will not appear.

Diet No. 5 is indicated for patients.

Patients must adhere to certain restrictions:

• exclude physical activity;
• give up antibiotics, steroids, anticonvulsants;
• do not drink alcohol;
• no smoking.

How to treat exacerbations of the disease

1. To normalize the concentration of bilirubin in the blood and relieve dyspeptic symptoms - Phenobarbital, Zixorin.
2. For concomitant cholecystitis and cholelithiasis - infusions choleretic herbs, tubages made from sorbitol and Barbara salt.
3. To remove direct bilirubin - Activated carbon, forced diuresis (Furosemide).
4. Albumin is used to bind bilirubin in the blood.
5. Phototherapy is used to destroy bilirubin in tissues.
6. B vitamins.
7. Choleretic drugs (Allohol, Holosas, Holagol).
8. Hepatoprotector courses – Ursosan, Karsil, Bonjigar, Hofitol, Legalon, LIV-52.
9. In conditions health threatening- blood transfusion.

Is it possible to avoid illness?

There are no specific methods for preventing the disease in question. When planning a pregnancy, a woman is recommended to consult a geneticist, especially if there is a history of the disease in the family.

To avoid relapses or exacerbations of the disease, it is necessary:

• observe the diet, rest and work regime;
• avoid exercise, fasting and dehydration;
• lifelong diet;

1. Remember that if you are ill, exposure to direct sunlight is contraindicated.
2. Monitor your health, promptly eliminate foci of infection and treat diseases of the biliary system.
3. The syndrome in a child is not a contraindication to preventive vaccination.
4. It is not recommended to take drugs that have side effects to the liver.
5. The presence of the syndrome in a pregnant woman does not affect negative influence for the fruit.

Despite possible symptoms, a third of patients state that they experience absolutely no inconvenience. As with any other pathology, early diagnosis is the key normal life And good health. If you follow all the doctor’s recommendations, the disease does not remind you of itself.