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Gilbert's syndrome: causes, symptoms and treatment, which is dangerous syndrome

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

Pathology received the name of the French doctor Augustine Gilbert, it was he who first discovered the syndrome. The disease is transmitted from parents to children - the source can be both a mother and a 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.

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Gilbert's syndrome - what is it in simple words

Gilbert's syndrome

photo of symptoms

This is a congenital chronic disease in which the utilization of free bilirubin in the liver cells, the hepatocytes, is impaired. Other names are benign, non-hemolytic familial jaundice, constitutional hyperbilirubinemia.

Что такое синдром Жильбера? - 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.

Чем опасен синдром Жильбера? - What is dangerous Gilbert's syndrome? The prognosis of the disease is favorable - it does not lead to death, and, flowing mainly in the chronic form, does not bring pain and discomfort.

Many throughout life do not even suspect that they have an illness until the increase in bilirubin is detected in the blood.

But if the diet is not followed, the regimen or because of an overdose of drugs and due to other factors, the course of the disease worsens and, sometimes, complications develop - cholelithiasis , pancreatitis, cholangitis, chronic hepatitis and extremely rarely - liver failure. In simple terms, you can not suspect this disease (especially in the absence of visible symptoms of "yellowing"), until you cross a certain line in nutrition or treatment.

  • E80.4. - Gilbert syndrome code according to ICD 10 (international classification of diseases).

The cause of Gilbert's syndrome

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

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

The cause of Gilbert syndrome is the mutation of the UGT 1A1 gene. He is responsible for the work of the enzyme that converts the bilirubin molecule to a non-free form. With disease, its activity is reduced by about a third of the norm. This also accompanies:

  1. Reduced ability of hepatocytes to seize bilirubin;
  2. Malfunction of the enzyme that transports it to the membranes of the liver cells.

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

Symptoms of Gilbert syndrome, photo

Symptoms of Gilbert's syndrome

photo of Gilbert's syndrome

During remission, the syndrome does not manifest itself. The first symptoms in most cases are found in puberty - from 13 to 20 years. At an earlier age, the disease makes itself felt if the child is infected with acute viral hepatitis.

The signs and symptoms of Gilbert's disease develop only with exacerbation, and in most cases it is moderate jaundice.

It manifests itself by staining the skin, mucous membranes and sclera in yellow color - the so-called “hepatic mask”. The expression of the shade is clearly noticeable when the level of bilirubin in the blood reaches 45 µmol / l or more. The appearance of xanthelasma, yellow granular inclusions under the skin of the upper and lower eyelids, is added to jaundice, which is associated with connective tissue dysplasia.

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

  • nausea;
  • decreased appetite;
  • belching;
  • heartburn;
  • flatulence;
  • breaking stool.

Additional symptoms:

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

signs of Gilbert's syndrome photo

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

During the life of the provocateurs of acute illness are:

  1. Violation of a supporting diet, fasting;
  2. Alcohol or drug use;
  3. High physical exertion;
  4. Stress, overwork;
  5. Viral infections (flu, herpes, HIV and others);
  6. Acute forms of existing chronic pathologies;
  7. Overheating of the body, hypothermia.

Taking large quantities of certain drugs also affects the exacerbation of Gilbert's genetic syndrome. These include: Aspirin, Paracetamol, Streptomycin, Caffeine, glucocorticosteroids, Levomycetin, Cimetidine, Rifampicin, Chloramphenicol.

Diagnosis of Gilbert syndrome

After examination and collection of anamnesis (complaints, medical history) a laboratory examination is carried out. The attending physician directs to pass tests for Gilbert's syndrome, among which there are special diagnostic tests:

  1. Starvation. The first sample of bilirubin is taken on an empty stomach in the morning before the test, the second after 48 hours, during which a person receives no more than 400 kcal per day with food. With the disease, the level of bilirubin for two days increases by 50-100%.
  2. Test with phenobarbital. If Gilbert's syndrome occurs, then taking this drug for 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:

  • urinalysis for the presence of bilirubin;
  • biochemical and complete blood count;
  • molecular DNA diagnostics;
  • a blood test for viral hepatitis;
  • analysis of stercobilin - in Gilbert's syndrome, this decay product of bilirubin in feces is not detected;
  • coagulogram - assessment of blood clotting.

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

Tactics of treatment of Gilbert's syndrome

treatment of Gilbert's syndrome

In the period of remission, which can last for many months, years, or even a lifetime, special treatment is not required. Here the main task is to prevent aggravation. It is important to follow a diet, work and rest regimen, not to overcool and avoid overheating of the body, to eliminate high loads and uncontrolled medication.

Treatment of Gilbert's disease in the development of jaundice 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 function;
  3. Choleretic drugs (Hofitol, Karlovy Vary salt, Holosas) and herbs with a similar effect 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 given flumecinol instead of strong barbiturates. It is taken in small doses and at bedtime, as it causes drowsiness and lethargy.

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

Thermal procedures in the abdomen and liver are unacceptable.

If necessary, symptomatic treatment of vomiting, nausea, heartburn, diarrhea and other disorders of the digestive system. Receiving vitamins, especially group B, is obligatory. At the same time, rehabilitation of all foci of infection in the body and therapy of biliary tract pathology are carried out.

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

Diet for Gilbert's syndrome

Medical nutrition involves the use of the menu of the table number 5 , in which are allowed:

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

Prohibited:

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

Full vegetarianism is contraindicated.

Dieting with Gilbert's syndrome not only alleviates the condition during jaundice, but also reduces the risk of exacerbations.

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