What is Gilbert's disease and treatment? Gilbert's syndrome: what is it in simple words. Treatment tactics for Gilbert's syndrome

If we talk in simple words, Gilbert's syndrome is genetic disease, characterized by impaired bilirubin metabolism. Refers to rare forms, but it is the most common in the group of hereditary pathologies that can be transmitted from parents to children. It is often diagnosed in men, and is less common in female patients.

What is Gilbert's syndrome

This chronic illness liver with a benign course. It is typically characterized by the appearance of periodic yellowness of the skin, mucous membranes and the formation of symptoms caused by an increase in the volume of bilirubin in the blood.

Gilbert's syndrome typically has a wavy course. Periods of exacerbation develop due to the consumption of certain foods or drinks containing alcohol.

Symptoms of the disease

A person’s well-being does not go beyond acceptable limits physiological norms. Signs of the disease appear from time to time. The main manifestations include:

• Jaundice different levels intensity.
• Increased weakness, rapid onset of fatigue even after mild exercise physical activity.
• Sleep disorders.
• Formation of xanthelasmas on the eyelids (yellowish formations).

With an increase in the volume of bilirubin in the blood, jaundice can develop throughout the body and affect certain areas, which include:

• Nasolabial triangle area.
• Palms, armpits.
• Surfaces of the feet.

Yellowing of only the sclera of the eyes indicates a slight increase in the amount of bile pigment.

Additional symptoms include the following conditions:

• Sensation of a stone in the right hypochondrium.
• Unpleasant feeling of discomfort in the stomach.
• Increased sweating.
• Apathy or increased nervousness.
• Bitter taste of saliva.
• Belching.
• Intestinal gases.
• Severe itching.
• Stool disorders.

A specific feature of the syndrome is an increase in the size of the spleen and liver, the development of concomitant diseases - cholecystitis, biliary tract dysfunction.

In a third of patients, the condition is asymptomatic. Since there are no characteristic complaints, the syndrome is diagnosed already when the consequences develop.

Causes

Gilbert's disease is a congenital (acquired at the genetic level) pathology. It is formed when a child is born with a defect in the structure of the second chromosome. Such a deviation leads to a decrease in the amount of bilirubin by up to 80%, as a result of which the process of transition of the toxic fraction of the enzyme into a bound form is disrupted. A chromosomal defect is detected during puberty, simultaneously with an increase in the amount of sex hormones.

There are many reasons that can provoke the development of the syndrome, but the leading ones are the following:

• Excessive consumption of alcoholic beverages.
• The use of anabolic steroids.
• Treatment with Paracetamol, Aspirin, Streptomycin, Rifampicin.
• Refusal to eat.
• Stressful conditions and overwork.
• Glucocorticoid therapy.
• Dehydration.
• Surgical intervention.
• Gluttony.

All these reasons are also considered as relapse-initiating factors.

Types of syndrome

The classification of Gilbert's disease is based on two criteria:

1. Hemolysis (additional destruction of red blood cells). Indirect bilirubin increases initially, until the “discovery” of the enzyme defect.
2. Past viral hepatitis. Then the signs appear before the child turns 13 years old.

Accurate diagnosis

To confirm the disease, studies are prescribed taking into account the current clinic.

A physical examination reveals yellowness of the skin and mucous membranes, pain in the right hypochondrium, and enlarged liver. Then tests are prescribed:

• CBC and blood biochemistry. It is carried out to determine the level of total bilirubin (its increase). A sign of the presence of the syndrome becomes an indicator of more than 60 µmol/l (hyperbilirubinemia), other fractions remain within the physiological norm.
• Urine analysis. Deviations in electrolyte balance not determined. Detection of bilirubin and a change in color (resembles dark beer) is a symptom of the development of hepatitis.
• Examination of stool for the presence of stercobilin.
• PCR (to diagnose a damaged gene).
• Rimfacin test. With the syndrome, the body reacts to the patient receiving an antibiotic in a volume of 900 mg by increasing the amount of indirect form of bilirubin.

To confirm preliminary diagnosis The patient is prescribed special laboratory tests based on a decrease and increase in bile pigment levels:

• Test with Phenobarbital - with the use of the drug, a drop in the amount is noted.
• When receiving nicotinic acid intravenously, the concentration increases after two to three hours.
• During a low calorie diet, there is an increase of 50–100% compared to normal.

Is also carried out instrumental examination patient:

• Ultrasound of organs abdominal cavity, as well as the gallbladder ducts.
• Collection of the contents of the duodenum.
• Radioisotope technique for studying parenchyma.

Taking a liver biopsy for histological analysis necessary if symptoms are present chronic hepatitis and (or) cirrhosis of the organ.

Most effective way genetic analysis is accepted. The presence of Gilbert's syndrome is determined by DNA diagnosis of the UDFGT gene. The condition is confirmed when the number of TA repeats in the defective area is equal to or exceeds seven.

Before starting treatment, doctors prescribe a hemotest to confirm the diagnosis with 100% certainty. During therapy, medications are used that have a very Negative influence to hepatocytes. If the doctor makes a mistake, the person’s liver will suffer greatly.

Possible complications and prognosis

The course of Gilbert's disease is favorable. There is no increased mortality rate among patients with this diagnosis, even if bilirubin remains elevated throughout life. The prognosis worsens with the combined course of syndromes accompanied by disturbances in the process of utilization of bile pigment - Crigler-Nayyar, Dubin-Johnson.

If a couple has a baby with Gilbert's disease, then when planning a second pregnancy it is necessary to consult a geneticist. The recommendation is also relevant if the pathology is detected in one of the parents.

Over time, a person develops dangerous complications: bile duct dyskinesia and cholelithiasis. Such diagnoses are not an indication for disability.

Treatment of Gilbert's syndrome

The patient management protocol is developed individually and depends on the following factors:

• General well-being of a person.
• Frequency of exacerbations.
• The amount of bilirubin.

Up to 60 µmol/l

At this level of bile pigment drug treatment, as a rule, is not prescribed. But only when a person does not have the following symptoms:

• Drowsiness.
• Severe depression.
• Bleeding from the gums.
• Attacks of nausea and vomiting.

The patient is prescribed:

• Conducting phototherapy sessions. The skin is illuminated with a special blue light, which promotes the transition of the indirect form of bilirubin to the direct form, which ensures its removal from the body.
• Compliance therapeutic diet. The selected diet completely excludes foods that can complete the remission period, in particular, fatty foods.
• Taking adsorbent drugs. It could be simple Activated Carbon, Polysorb.

The patient is also contraindicated sunbathing Therefore, before going out into the open sun, it is recommended to apply special protective creams to the surface of the skin.

Over 80 µmol/l

Gilbert's syndrome is treated with Phenobarbital. The duration of the course is two to three weeks. The drug provokes drowsiness and lethargy, for this reason the patient is prescribed a bulletin. Driving vehicles is also prohibited.

If the drug is poorly tolerated, the disease can be treated with drugs containing phenobarbital - Corvalol, Valocardin, Barboval.

To activate the work of liver enzymes, the patient is prescribed the drug Zixorin (analogs - Synclit, Flumecinol). The medicine does not have a pronounced hypnotic effect, unlike Phenobarbital, and is eliminated from the body in a shorter time.

During treatment the following are also used:

• Adsorbent drugs.
• Inhibitors proton pump– Omeprazole, Rabeprazole – slow down the production of hydrochloric acid.
• Means that lead to normal gastrointestinal motility - Motilium, Domperidone, Dormikum.

Remission of the disease

For this purpose, patients can drink infusions and decoctions of herbs with a choleretic effect, as well as the medicines Urocholum, Gepabene, Ursofalk.

Good results are obtained by practicing the “blind probing” technique. A person takes an aqueous solution of xylitol, sorbitol or Carlsbad salt in the morning immediately after waking up. Then he lies down on his right side and warms up the gallbladder area with “dry” heat for 30 minutes.

Diet during treatment

During the period of remission, the patient is not required to strictly adhere to the principles of special nutrition. It is enough to exclude a set of products that can provoke an exacerbation. Each patient has his own and is compiled using the trial method.

• The menu should include as many vegetables containing fiber as possible.
• Meat and fish - daily, but in minimal quantities.
• The restriction is imposed on sweets, soda, and fast food.

It is advisable to give up alcohol completely. Even if jaundice does not develop after drinking strong alcoholic drinks, in combination with fatty foods they can provoke the formation of hepatitis.

The patient's diet must be balanced. If this requirement is violated, the bilirubin level decreases. But not due to improved liver function, but as a result of the development of anemic conditions.

With hyperbilirubinemia, accompanied by an increase in bile pigment levels above 80 µmol/l, a person is recommended to have a more limited diet. The menu is allowed to include the following products:

• Dietary varieties of fish and meat.
• Fermented milk products, cottage cheese with minimum indicator fat content
• Homemade crackers, day-old (stale) baked goods.
• Biscuits.
• Juices (sweet only).
• Berry infusions.
• All types of teas.
• Vegetables fruits.

Prohibited:

• Fatty foods, as well as those with a spicy taste.
• Preservation and smoked meats.
• Baking, sweets.
• Coffee, cocoa.
• Alcohol, regardless of strength.

Military service

In accordance with the current schedule of diseases, which contains complete health requirements for future conscripts, young people with Gilbert's syndrome are recognized as fit for military service. The diagnosis is not a basis for granting a deferment or issuing a ticket in hand (commission).

But there is a caveat: the serviceman is required to organize the necessary conditions. The conscript must eat well so as not to lose weight and not undergo significant physical exertion. In reality, it is difficult to ensure compliance with these requirements in a military unit. It is possible to guarantee compliance with medical orders if the young man receives a position at the headquarters.

At the same time, Gilbert's syndrome is considered as a reason for refusing to accept documents to military universities (young people are not allowed to build a professional career).

Prevention of the syndrome

It is impossible to prevent the formation of Gilbert's disease, because it is congenital pathology. But you can “push back” the period of development characteristic symptoms, and also minimize the number of clinical relapses.

Prevention measures include:

• Healthy eating – include a lot of plant-based foods in your diet.
• Hardening - strengthening immune defense prevents infection by viruses and bacteria.
• Good quality food, eliminating the risk of poisoning - vomiting is the triggering condition for exacerbation.
• Refusal to work involving heavy loads.
• Reducing time spent in sunlight.
• Elimination of factors that can cause viral hepatitis.

Routine vaccinations when the syndrome is confirmed are permitted.

Doctor's report

Gilbert's disease is a condition that in most cases is not dangerous. But a person is forced to observe certain restrictions for life, in particular, adhere to nutritional recommendations.

Gilbert's syndrome is one of the types of hereditary pigmentary hepatosis. It is associated with a violation of bilirubin metabolism in the liver and the disease is called conditionally. It is more correct to consider it a genetically determined feature of the body.

The pathology was named after the French doctor Augustin Gilbert, who was the first to discover the syndrome. The disease is transmitted from parents to children - the source can be either the mother or the father. This type of inheritance is called autosomal dominant.

The disease is more often detected in men and occurs in 2-5% of the world's population.

Gilbert's syndrome - what is it in simple words

photo of symptoms

It's innate chronic illness, in which the utilization of free bilirubin in liver cells – hepatocytes – is impaired. Other names are benign, non-hemolytic familial jaundice, constitutional hyperbilirubinemia.

- What is Gilbert's syndrome? In simple words, it can be described as the process of accumulation of bilirubin in the blood, which is normally converted in the liver and excreted from the body with bile.

- Why is Gilbert's syndrome dangerous? The prognosis of the disease is favorable - it does not lead to fatal outcome and, flowing mainly in chronic form, does not bring pain or discomfort.

Many people throughout their lives do not even suspect that they have the disease until an increase in bilirubin is detected in the blood.

But if the diet, regimen is not followed, or due to an overdose of medications and due to other factors, the course of the disease worsens and, sometimes, complications develop - pancreatitis, cholangitis, chronic hepatitis and, extremely rarely, - liver failure. Speaking in simple language, you may not suspect this disease (especially if there is no visible symptoms“yellowing”) until you cross a certain threshold in nutrition or treatment.

• E80.4. – Gilbert’s syndrome code according to ICD 10 ( international classification diseases).

Cause of Gilbert's syndrome

Bilirubin is formed from the breakdown of hemoglobin, and the primary unbound form of this substance is toxic. Normally, its exchange consists of several stages:

• transportation in blood plasma to the liver;
• capture of its molecules by hepatocytes;
• conversion to a non-toxic, bound form (conjugation);
• biliary excretion, or in simple words – entry into the bile secretion;
• final destruction and excretion in the intestines, where bile enters from the gallbladder.

The cause of Gilbert's syndrome is a mutation in the UGT 1A1 gene. It is responsible for the work of the enzyme that converts the bilirubin molecule into a non-free form. When sick, its activity decreases by about a third of normal. This is also accompanied by:

1. Decreased ability of hepatocytes to take up bilirubin;
2. A malfunction of the enzyme that transports it to the membranes of liver cells.

As a result, the first three stages of bilirubin metabolism are disrupted; it accumulates in the blood and, during exacerbations, leads to the development of symptoms of Gilbert's disease, which will be discussed further.

Symptoms of Gilbert's syndrome, photo

photo of Gilbert's syndrome manifestations

During the period of remission, the syndrome does not manifest itself in any way. The first symptoms in most cases are detected during puberty - from 13 to 20 years. In more early age The disease makes itself felt when a child is infected with acute viral hepatitis.

Signs and symptoms of Gilbert's disease develop only during exacerbation, and in the vast majority of cases this is mild jaundice.

It manifests itself as staining of the skin, mucous membranes and sclera in yellow- the so-called “liver mask”. The severity of the shade is clearly visible when the level of bilirubin in the blood reaches 45 µmol/l or more. Jaundice is accompanied by the appearance of xanthelasma - yellow granular inclusions under the skin of the upper and lower eyelids, which is associated with connective tissue dysplasia.

About half of patients complain of discomfort in the gastrointestinal tract:

• nausea;
• decreased appetite;
• burping;
• heartburn;
• flatulence;
• stool disorder.

Additional symptoms:

• weakness, dizziness;
• discomfort in the liver area;
• bitter taste in the mouth;
• swelling of the legs;
• lowering blood pressure;
• shortness of breath and heart pain;
• anxiety, irritability;
• headache.

During exacerbations of the syndrome, the color of the discharge often changes - and the feces become colorless.

During life, provocateurs of exacerbation of the disease are:

1. Violation of the maintenance diet, fasting;
2. Use of alcohol or drugs;
3. High physical activity;
4. Stress, overwork;
5. Viral infections (flu, herpes, HIV and others);
6. Acute forms of existing chronic pathologies;
7. Overheating of the body, hypothermia.

Admission to large quantities Some drugs also affect the exacerbation of genetic Gilbert's syndrome. These include: Aspirin, Paracetamol, Streptomycin, Caffeine, glucocorticosteroids, Levomycetin, Cimetidine, Rifampicin, Chloramphenicol.

Diagnosis of Gilbert's syndrome

After examination and collection of anamnesis (complaints, medical history), a laboratory examination. The attending physician will order tests for Gilbert's syndrome, including special diagnostic tests:

1. Starvation. The first bilirubin sample is taken on an empty stomach in the morning before the test, the second - 48 hours later, during which the person receives no more than 400 kcal per day from food. In case of illness, the level of bilirubin increases by 50-100% in two days.
2. Test with phenobarbital. If Gilbert's syndrome occurs, then this drug within five days leads to a decrease in bilirubin in the blood.
3. Test with nicotinic acid. 40 mg of the substance is administered intravenously, and if the percentage of bilirubin increases, the result is considered positive.

Other diagnostic methods:

• urine test for the presence of bilirubin;
• biochemical and general analysis blood;
• DNA molecular diagnostics;
• blood test for the presence of viral hepatitis;
• test for stercobilin - in Gilbert's syndrome, this breakdown product of bilirubin is not detected in the stool;
• coagulogram – assessment of blood clotting.

Diagnosis of Gilbert's syndrome includes methods such as ultrasound and CT scan abdominal cavity, liver biopsy and elastography (study of liver tissue to detect fibrosis).

Treatment tactics for Gilbert's syndrome

During the period of remission, which can last many months, years and even a lifetime, special treatment not required. The main task here is to prevent aggravation. It is important to follow a diet, a regime of work and rest, not to overcool and avoid overheating of the body, to avoid high stress and uncontrolled use of medications.

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

1. Barbiturates – reduce the concentration of bilirubin in the blood;
2. Hepatoprotectors (Essentiale, Ursosan, Karsil, milk thistle extract) – support liver functions;
3. Choleretic drugs (Hofitol, Carlsbad salt, Holosas) and herbs with similar action– accelerate the movement of bile;
4. Enterosorbents (Polysorb, Enterosgel, Activated carbon) – help remove bilirubin from the intestines;
5. Means for the prevention of cholecystitis and cholelithiasis.

Adolescents may be prescribed Flumecinol instead of potent barbiturates. It is taken in small doses before bedtime as it causes drowsiness and lethargy.

Physiotherapeutic measures include the use of phototherapy, in which blue lamps bilirubin accumulated in the skin is destroyed.

Thermal procedures in the abdomen and liver are unacceptable.

If necessary, carried out symptomatic treatment vomiting, nausea, heartburn, diarrhea and other disorders digestive system. It is mandatory to take vitamins, especially group B. At the same time, all foci of infection present in the body are sanitized and biliary tract pathology is treated.

If the level of bilirubin in the blood reaches a critical level (above 250 µmol/l), then a blood transfusion and the administration of albumin are indicated.

Diet for Gilbert's syndrome

Medical nutrition provides for use in which the following are permitted:

• different types of cereals;
• lean meat and fish;
• fruits and vegetables – fresh and boiled;
• low-fat kefir, cottage cheese, yogurt, fermented baked milk;
• dry biscuits, wheat bread;
• freshly squeezed non-acidic juices, weak tea, compote;
• vegetable soups.

Prohibited:

• baked goods;
• lard, fatty meat;
• spinach;
• mustard, pepper, other spices and spices;
• coffee;
• spinach and sorrel (as they contain oxalic acid);
• chocolate, cocoa;
• eggs;
• alcoholic and carbonated drinks;
• ice cream, full-fat milk, sour cream, cheese.

Complete vegetarianism is contraindicated.

Following a diet for Gilbert's syndrome not only alleviates the condition during jaundice, but also reduces the risk of exacerbations.

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

A large number of predisposing factors can become a trigger for the development of characteristic symptoms, for example, leading an unhealthy lifestyle, excessive physical activity, indiscriminate use of medications and many others.

What is this in simple words?

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

Because this syndrome has few symptoms and manifestations, it is not considered a disease, and most people do not know that they have it. this pathology until the blood test shows increased level bilirubin.

In the United States, approximately 3% to 7% of the population has Gilbert's syndrome, according to National Institute Health – Some gastroenterologists believe the prevalence may be higher and reach 10%. The syndrome occurs more often among men.

Reasons for development

The syndrome develops 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 - uridine diphosphate glucuronyl transferase (or bilirubin-UGT1A1). This causes a decrease in the content of this enzyme by up to 80%, which is why its task - converting indirect bilirubin, which is more toxic to the brain, into the bound fraction - is performed much worse.

The genetic defect can be expressed in different ways: in the bilirubin-UGT1A1 location, an insertion of two extra nucleic acids is observed, but it can occur several times. The severity 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 with 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 chromosomes X and Y, that is, the abnormal gene can appear in a person of any gender;
2. Every 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 a paired chromosome at the same locus, pathology has no chance, but a person with such a gene anomaly becomes a carrier and can pass it on to their 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 have a gene with a defect, so the chance of passing it on from both parents is quite high.

Symptoms of Gilbert's syndrome

The symptoms of the disease in question are divided into two groups – obligatory and conditional.

Mandatory manifestations of Gilbert's syndrome include:

• general weakness and fast fatiguability for no apparent reason;
• yellow plaques form in the eyelid area;
• sleep is disturbed - it becomes shallow, intermittent;
• appetite decreases;
• 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.

Conditional symptoms that may not be present:

• pain in muscle tissue;
• severe itching skin;
• intermittent shaking upper limbs;
• regardless of food intake;
• headache and dizziness;
• apathy, irritability – disturbances of the psycho-emotional background;
• bloating, nausea;
• stool disorders - patients are bothered by diarrhea.

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.

Diagnostics

Various laboratory tests help 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 bilirubin.
• complete blood count - reticulocytosis is noted in the blood ( increased content immature red blood cells) and anemia mild degree- 100-110 g/l.
• biochemical blood test - blood sugar - normal or slightly reduced, blood proteins - within normal limits, alkaline phosphatase, AST, ALT are normal, thymol test is negative.
• General urine test - no deviations from the norm. The presence of urobilinogen and bilirubin in the urine indicates liver pathology.
• blood clotting - prothrombin index and prothrombin time are within normal limits.
• Markers of viral hepatitis are absent.
• Ultrasound of the liver.

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

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

In addition, special tests are performed to confirm the diagnosis:

• Fasting test.
• Fasting for 48 hours or restricting food calories (up to 400 kcal per day) leads to sharp increase(2-3 times) 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 reduce the level of unconjugated bilirubin.
• Test with nicotinic acid.
• Intravenous injection of nicotinic acid at a dose of 50 mg leads to an increase in the amount of unconjugated bilirubin in the blood by 2-3 times over three hours.
• Test with rifampicin.
• Administration of 900 mg of rifampicin causes an increase in indirect bilirubin.

Percutaneous liver puncture can also confirm the diagnosis. Histological examination of the punctate shows no signs of chronic hepatitis and liver cirrhosis.

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.

In this group of patients it was noted increased sensitivity cells react to hepatotoxic factors such as alcohol, drugs, and some groups of antibiotics. Therefore, in the presence of the above factors, it is necessary to monitor the level of liver enzymes.

Treatment of Gilbert's syndrome

During the period of remission, which can last many months, years and even a lifetime, no special treatment is required. The main task here is to prevent aggravation. It is important to follow a diet, a regime of work and rest, not to overcool and avoid overheating of the body, to avoid high stress and uncontrolled use of medications.

Drug treatment

Treatment of Gilbert's disease when jaundice develops includes the use of medications and diet. Medicines 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”, “Cholenzim”);
• 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 need to undergo diagnostic procedures regularly to monitor the course of the disease and study the body’s response to drug treatment. Timely testing and regular visits to the doctor will not only reduce the severity of symptoms, but also prevent possible complications, which are treated so seriously somatic pathologies, such as hepatitis and cholelithiasis.

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.

First, you need to carry out protection biliary tract– this will prevent stagnation of bile and the formation of stones in the gallbladder. 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.

Nutrition

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

Prohibited for use:

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

Permitted for use:

• all types of cereals;
• vegetables and fruits in any form;
• low-fat fermented milk products;
• bread, biscuits;
• meat, poultry, fish of non-fatty varieties;
• 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 lives of such people, they are classified as a normal risk group. When treated with phenobarbital or cordiamine, bilirubin levels decrease to normal. It is necessary to warn patients that jaundice may appear after intercurrent infections, repeated vomiting and missed meals.

Marked high sensitivity patients to various hepatotoxic effects (alcohol, many medications, etc.). It is possible to develop inflammation in the biliary tract, cholelithiasis, psychosomatic disorders. Parents of children suffering from this syndrome should consult a geneticist before planning another pregnancy. The same should be done if relatives married couple planning to have children, has been diagnosed with the syndrome.

Prevention

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

Gilbert's syndrome was first described in 1901. Today it’s not so much a rare event, since about 10% of the inhabitants of the entire planet suffer from it. The syndrome is inherited and is most common on the African continent, but also occurs among residents European countries and people living in countries South-East Asia. Let's look at how the syndrome develops, why it is dangerous, and how to treat it.

Bilirubin is a substance that is a product of the processing of red cells and hemoglobin. With Gilbert's syndrome, an increased content of it in the blood is observed due to a decrease in the activity of the production of the enzyme glucuronyltransferase. This disease does not provoke particularly severe changes in the structure of the liver, but it can lead to serious consequences in the form of stones in the gallbladder.

By origin, Gilbert's syndrome is:

• congenital (manifests without previous hepatitis);
• manifesting (characterized by the presence of the above pathology in the medical history).

To determine the form of the syndrome that is observed in a particular case, the patient is referred for genetic testing. There are 2 forms of the disease:

• homozygous (UGT1A1 TA7/TA7);
• heterozygous (UGT1A1 TA6/TA7).

The syndrome occurs with the following clinical signs:

All of the above factors can not only provoke the manifestation of the syndrome, but also aggravate the severity of the pathology that a person already has. The syndrome can manifest itself actively or less pronounced, depending on the action of these factors.

Diagnosis and clinical manifestations

Diagnosis of Gilbert's syndrome begins with collecting anamnesis and asking the following questions:

1. When did symptoms occur? painful sensations, skin changes and other characteristic manifestations)?
2. Did any factors influence the occurrence this state(has the patient abused alcoholic drinks, were there surgical interventions, have you had any illnesses? infectious diseases in the near future, etc.)?
3. Were there people in the family with a similar diagnosis or other liver pathologies?

Next, when diagnosing the syndrome, a visual examination is performed. The doctor pays attention to the presence (absence) of jaundice, pain that occurs when palpating the abdomen, and other symptoms. also in mandatory To diagnose the syndrome, laboratory and instrumental methods examinations.

Symptoms

Signs of the syndrome are divided into 2 groups – obligatory and conditional. If all of the above symptoms occur, you should immediately consult your doctor. Mandatory signs of Gilbert's syndrome appear as follows:

• change in skin color (yellowing) and mucous membranes;
• deterioration general condition(weakness, increased fatigue) without obvious reasons;
• formation of xanthelasmas in the eyelid area;
• sleep disturbance (it becomes restless, intermittent);
• loss of appetite.

Conditional manifestations of the syndrome are possible in the form of:

• sensations of heaviness in the hypochondrium (right) and its occurrence does not depend on food intake;
• migraines and vertigo;
• sudden changes in mood, irritability (disturbed psycho-emotional state);
• pain in the muscles;
• itching;
• tremor (which occurs from time to time);
• hyperhidrosis;
• flatulence and nausea;
• bowel dysfunction (the patient has diarrhea).

Laboratory research

To confirm the syndrome, special tests are performed:

1. Prescribing a fasting test. There is a significant increase in bilirubin after a two-day fast.
2. Application of a test with nicotinic acid. With intravenous administration of this acid, a decrease in the osmotic resistance of red blood cells and an increase in bilirubin levels are observed.
3. Prescribing a test with Phenobarbital. The use of medication in diagnosing the syndrome is necessary due to an increase in the activity of a certain enzyme (glucuronyltransferase) that promotes the binding of indirect bilirubin and its decrease.
4. Application of the molecular DNA research method. This is a method that helps determine the mutation of the UGT1A1 gene, namely its promoter region.

To make a diagnosis of Gilbert's syndrome, it is important to carry out laboratory tests:

1. UAC. In the presence of the syndrome, an increase in hemoglobin levels and an increase in the content of reticulocytes is possible.
2. Biochemical blood test (increased levels of bilirubin, increased levels of liver enzymes and increased levels of alkaline phosphatase are observed).
3. Coagulogram. In the syndrome, coagulability is normal or a slight decrease is observed.
4. Molecular diagnostics (DNA analysis of a gene that affects the manifestations of the disease is performed).
5. Blood test for the presence (absence) of viral hepatitis.
6. PCR. Thanks to the results obtained, it is possible to assess the risk of developing the syndrome. UGT1A1 (TA)6/(TA)6 is an indicator indicating the absence of violations. With this result: UGT1A1 (TA)6/(TA)7, you should know that there is a risk of developing pathology. UGT1A1 (TA)7/(TA)7 – indicates high risk development of the syndrome.
7. Urine analysis (its color and other indicators are assessed).
8. Analysis of feces for stercobilin. For this diagnosis it must be negative.

Instrumental methods

Also, when diagnosing the syndrome, some instrumental and other methods are used:

Treatment approaches

• refusal to eat unhealthy (excessively fatty) foods;
• limitation of loads (related to work activities);
• exclusion of alcohol;
• prescribing and taking medications that improve the condition and function of the liver, as well as promoting the outflow of bile;
• prescribing vitamin therapy (especially useful in in this case B vitamins).

Drug effects

If symptoms of the syndrome occur, a number of drugs are prescribed:

• barbiturates (often prescribed for sleep disorders, anxiety and seizures and some other symptoms accompanying this pathological condition);
• choleretic agents (lead to increased secretion of bile and its release into the duodenum);
• hepatoprotectors (drugs intended to protect the liver from negative impact various factors);
• drugs that help prevent the development of gallstones and cholecystitis;
• enterosorbents (substances that, when they enter the stomach and intestines, begin to absorb poisons and toxins and then remove them naturally).

For dyspeptic disorders, various medications are used, including digestive enzymes. Also, if jaundice occurs, phototherapy is prescribed. For this purpose they are used quartz lamps, helping to break down bilirubin deposited in the skin.

Home methods

Traditional methods of treatment can also be used in this case. But don't forget that everything therapeutic effects must be agreed with the attending physician. The following herbs help normalize bilirubin levels:

Medical nutrition

Proper nutrition is the basis for treating the syndrome, since the patient must necessarily reduce the load on the liver.

Treatment in pregnant women and children

Treatment of children with the syndrome should be carried out with caution and methods should be as safe as possible, so they are prescribed:

• medications that help reduce the level of indirect bilirubin: Hepel, Essentiale;
• treatment with enzymes and sorbents (these groups of drugs improve liver function): Enterosgel, Enzyme;
• reception choleretic drugs(reduce bilirubin): Ursofalk;
• taking vitamins and minerals (strengthens protective forces organism).

Tatyana: “When I was in the maternity hospital with my newborn daughter, we decided to check the child for Gilbert’s syndrome, since I had such problems in my family. I had to wean my daughter off the breast for several days (we were on formula). Bilirubin began to fall, which is also an indicator.

They sent the blood for testing to the genetic center, and the answer came back “indistinct” (they could neither confirm nor deny the presence of the syndrome in my daughter) and offered to take tests on other items in order to confirm the diagnosis by exclusion. But we didn't. I know my heredity. In any case, most dangerous syndrome is specifically for newborns, as their bodies are weak.”

Emergence of this syndrome during pregnancy - an extremely rare occurrence. If one of the woman’s relatives or her husband suffered from it, she should definitely inform her gynecologist about it. Treatment of Gilbert's syndrome in pregnant women is standard: the use of choleretic drugs, hepatoprotectors and vitamins.

Anna: “My sister got this syndrome from her dad (he suffered from jaundice in his youth). Tanya found out about this disease by accident, only when she began tests during pregnancy (her bilirubin was elevated). In principle, there is nothing particularly terrible about the syndrome, except external manifestations(Dad has yellow pupils, but this is almost unnoticeable). But this syndrome was not passed on to me. So it’s not a fact that even with such heredity the disease will manifest itself.”

Irina: “My friend was diagnosed with Gilbert’s syndrome from birth.” He has been drinking Karsil all his life. Now his girlfriend is pregnant and she is afraid that the child will also get this disease. Although she understands that this is not fatal, she does not want the baby to take pills all his life just like her husband. Doctors say that there is no need to worry - the main thing is to periodically drink hepatoprotectors.”

How to live with pathology?

People with Gilbert's syndrome can live in most cases normal life, with minor restrictions, play sports, give birth to children, undergo military service. The last point is worth dwelling on in more detail.

In the process of filling out the report for the military registration and enlistment office, the syndrome is given category B (fit, but with minor restrictions). Young people with this diagnosis are advised to avoid heavy physical activity, stress and fasting.

If a soldier’s health deteriorates, he may be placed in a military hospital or even discharged from the army. If the patient has other symptoms in parallel with the syndrome accompanying pathologies, young man with such a diagnosis, a deferment or category B (meaning that he is fit only in wartime) may be given.

To support the organ, each patient with Gilbert's syndrome should follow these recommendations:

You should also remember that:

1. The development of the syndrome is difficult to prevent, since it is a hereditary disease.
2. It is necessary to reduce or completely eliminate the influence of toxic factors on the liver.
3. It is important to avoid drinking alcoholic beverages.
4. Waiver required bad habits and taking anabolic steroids.
5. It is very important to undergo an annual medical examination to identify and/or treat liver diseases.

Gilbert's syndrome is not too much dangerous pathology, which, however, without necessary treatment capable of provoking severe complications and consequences in the form of chronic hepatitis and cholelithiasis. Also, in the presence of external manifestations, a person feels a certain discomfort while in society. It is difficult to prevent the development of the syndrome, since the main role is played by hereditary factor, but it is still possible if you follow the basic recommendations of experts.

Gilbert's syndrome (Crohn's Gilbert's disease) is a hereditary pathology in which the utilization of bilirubin is impaired. This disease is transmitted to the child from the parents.

Gilbert's syndrome is an autosomal dominant disorder.

The disease strikes more men than women, and usually appears after puberty. Therefore, the risk group includes young people aged 12 years and older. This is an inborn error of metabolism. The risk of this disease is greater in children whose parents have Gilbert's syndrome.

Factors that increase the amount of bilirubin in the blood:

• infections;
• alcohol consumption;
• smoking;
• drugs;
• some medications(such as Simvastatin, Atorvastatin, Ibuprofen, Acetaminophen, Buprenorphine);
• injuries and operations.

Provoking factors that aggravate diseases include deviation from dietary intake, stressful situations, colds and viral diseases.

The main cause of the disease is a decrease in the activity of the enzyme glucuronosyltransferase, which promotes the conversion of toxic indirect bilirubin into direct and non-toxic.

The decrease in glucuronosyltransferase is caused by the UGT 1A1 gene. A change or mutation in this gene leads to the formation of Gilbert's syndrome.

Stages of the disease and clinical manifestations

The main feature of the pathology is yellowing of the sclera (part eyeball which should be white). In addition, yellowness of the skin is possible.

Many patients complain of poor concentration, nausea, body and abdominal pain, diarrhea and depression.

Gilbert's syndrome disrupts immune system, colds and infectious diseases often occur.

Also this disease The following symptoms are typical:

During an exacerbation of the disease, urine color may change (dark), pale stools, heavy sweating and intolerance to fatty foods.

Patients also complain of headaches, tachycardia, memory impairment, numbness and tingling in the extremities, vomiting, excessive thirst, feelings of cold and anxiety, muscle and joint pain, anxiety, bloating, photosensitivity, diarrhea or constipation, eye and sinus pain.

Gilbert's syndrome is characterized by 2 variants of its course. In the first case, the disease occurs between 13 and 20 years of age, in the second - up to 13 years of age (if infection with acute viral hepatitis occurs).

Doctors talk more about this disease, watch the video:

What tests are performed to detect the disease?

Often the disease is detected during a routine blood test. With Gilbert's syndrome, the content of bilirubin in the blood is increased. Total bilirubin should be less than 1.1 mg per deciliter of blood. With Gilbert's syndrome, this figure rises to 2 or even 5 mg.

Higher bilirubin values ​​indicate another disorder. For example, in Crigler-Najjar syndrome its value is more than 20 mg/ml.

To diagnose pathology, liver function tests are performed. It is necessary to find out the indicators of cholesterol, albumin, prothrombin index and others. It is possible to carry out special diagnostic tests: fasting, test with Phenobarbital, test with nicotinic acid, rifampicin test.

Required instrumental studies: Ultrasound, CT, liver biopsy, elastography.

Complications and consequences

Many patients are interested in complications of the disease. People want to be prepared for anything. The doctor must tell the patient about possible consequences. Some patients may have no side effects, but re-evaluation is necessary to ensure the effectiveness of treatment.

Others may experience the following complications:

• fulminant pigmentary hepatosis;
• chronic hepatitis;
• cholelithiasis.

To avoid complications, you must strictly follow the recommendations of doctors.

Traditional therapy for Gilbert's syndrome

As such, there is no treatment for this disease. The doctor should tell the patient about dietary nutrition and rules of conduct in case of exacerbation. The remission period can last several years; no special treatment is required.

Medicines can be prescribed only if jaundice occurs and the patient’s condition worsens.

If there dyspeptic disorders Take antiemetic medications and digestive enzymes to aid digestion.

Treatment of Gilbert's syndrome with Corvalol is possible; it acts a little more mildly than Phenobarbital. Phenobarbital is classified as an inducer of the liver monoxidase system; the drug quickly stabilizes bilirubin levels.

If the disease is severely advanced and cannot be cured drug therapy, necessary medical intervention in the form of a liver transplant operation.

Risks surgical treatment with Gilbert's syndrome may be the following: infection, thrombosis, stenosis hepatic artery or veins.

Treatment with folk remedies

Therapy with folk remedies is necessary to get rid of jaundice. Since Gilbert's syndrome is a liver disease, treatment will consist of the use of various infusions, decoctions and teas.

Popular infusion recipes:

1. Take 1 tbsp. l. dried and chopped chicory, pour 500 ml of boiled water and put on low heat. The infusion should be boiled for about half an hour, after which the product is infused for 1 hour. When the infusion has cooled, strain and take 50 ml 3 times a day;
2. A tablespoon of fragrant barley is poured into 200 ml cold water. The medicine is infused for 1 night. It should be drunk in small sips throughout the day;
3. Add 50 g of chopped milk thistle to 500 ml of good vodka. The medicine is infused for two weeks. The product must be stirred periodically. Accept medicinal infusion 4 times a day before meals. Directions for use: dilute 20-30 drops of the product in 100 ml of water.
4. Crushed 500 mg of horseradish roots are poured with boiling water. After a day, filter the product. Take 50 ml before meals. The course of treatment is 7 days.

To prepare teas, medicinal plants such as corn silk, elecampane, calendula, barberry, rosehip, milk thistle, St. John's wort. Decoctions based on these herbs can be used individually, alternating, or together.

Effective decoctions for Gilbert's syndrome

Herbalists and traditional healers offer many recipes for decoctions of medicinal plants. They are very easy to prepare and do not require any insistence. The main thing in cooking folk remedies at home - follow the dosage. Recipes:

1. An excellent remedy against jaundice is a decoction of immortelle. Pour 20 grams of crushed plant into a liter of water, boil until half the volume of liquid remains in the saucepan. Drink 100 ml infusion 3 times a day. Use the decoction until the jaundice goes away;
2. The prickly tartar is very useful for the liver. Milk thistle is considered universal plant. To prepare the decoction 3 tbsp. l. crushed seeds are poured into 0.5 liters of water. Place the product on water bath so that the water does not boil away quickly. Simmer the medicine for 40-60 minutes, the amount of liquid should be reduced by half. Leave to cool, then filter the broth. Take the medicine 20 ml 3 times a day. It is better to consume the decoction before meals. Treatment with this remedy continues for up to 2 months until the jaundice goes away.

In addition to medications, infusions, teas and decoctions, you should take multivitamin complexes.

Lifestyle, regimen and dietary nutrition

Unfortunately, dietary food will have to be observed constantly so that a relapse does not occur.

The table shows permitted and prohibited foods for Gilbert's syndrome:

A person diagnosed with Gilbert's syndrome should not lift heavy objects or put too much stress on the body. The condition may worsen significantly after prolonged work.

Try to take breaks between work and avoid severe psycho-emotional stress.

Gilbert's syndrome is a liver disorder accompanied by increased amount bilirubin in the blood. It does not require specific treatment.

The main thing in treatment is consistency and regularity. Be sure to tell your doctor if new symptoms appear. Not a single sign should be left unattended.

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