Gilbert's syndrome is a benign hereditary disease that does not require special treatment. It manifested the disease periodically or continuously increasing blood bilirubin, jaundice, and some other symptoms.  Gilbert's syndrome - an inherited disease

Causes Gilbert's disease

The cause of the disease is mutation of the gene responsible for the work of the liver enzyme - glyukuroniltransferazy. This is a special catalyst which participates in the metabolism of bilirubin, a decomposition product of hemoglobin. In the context of a lack of glyukuroniltransferazy at Gilbert's syndrome bilirubin can not be contacted with a molecule of glucuronic acid in the liver and, as a consequence, its concentration in the blood rises.

Indirect (free) bilirubin poisoning the body, especially the central nervous system suffers. Disposal of this material is possible only in the liver, and only with a special enzyme, after which he bound form excreted in the bile. When Gilbert's syndrome bilirubin decreases artificially with special drugs.

The disease is inherited in an autosomal dominant pattern, that is, when one of the parents is ill, the probability of having a child with the same syndrome is 50%.

Factors provoking exacerbation Gilbert are:

  • Receiving certain drugs - anabolic steroids and glucocorticoids;
  • Excessive exercise;
  • Alcohol abuse;
  • Stress;
  • Operations and injuries;
  • Viral and colds.

Gilbert's syndrome can cause a diet, especially unbalanced, fasting, overeating, and eating fatty foods.

The symptoms of Gilbert's syndrome

The general condition of people with the disease are usually satisfactory. The symptoms of Gilbert's syndrome include:

  • The occurrence of jaundice;
  • The feeling of heaviness in the liver;
  • Moderate pain in the right upper quadrant;
  • Bitterness in the mouth, nausea, belching;
  • Violation of the stool (diarrhea or constipation);
  • Bloating;
  • Fatigue and poor sleep;
  • Dizziness;
  • Depressed mood.

Stressful situations (psychological or physical stress), infectious processes in the biliary tract and nasopharynx further provoke the appearance of these symptoms.

The main symptom is jaundice Gilbert syndrome, which can occur periodically (after exposure to certain factors), or have a chronic nature. The degree of its severity also varies from jaundice sclera only enough to express a diffuse staining of the skin and mucous membranes. Sometimes there is pigmentation of the face, small yellowish plaques on the eyelids and scattered patches on the skin. In rare cases, even at elevated bilirubin jaundice is absent.

In 25% of affected individuals revealed an enlarged liver. At the same time she is 1-4 cm protrudes from under the rib arch, normal consistency at palpation pain is not felt.

In 10% of patients may be increased spleen.

Diagnosis of the disease

Treatment of Gilbert's syndrome is preceded by his diagnosis. Discover a hereditary disease is simple: taken into consideration the patient's complaints, as well as family history (identification carriers or patients among close relatives).

To diagnose the disease the doctor will prescribe a common blood and urine tests. The presence of the disease show reduced levels of hemoglobin and the presence of immature red blood cells. In urine, no changes should not be, but if it will show up urobilinogen and bilirubin, it indicates the presence of hepatitis.

Also, the following samples:

  • With phenobarbital;
  • Since nicotinic acid;
  • With starvation.

For the last sample Gilbert syndrome analysis is performed on the first day, then two days, during which the patient is fed a low-calorie diet (no more than 400 kcal per day). Increased bilirubin 50-100% indicates that the person does have a hereditary disease.

Test with pentobarbital involves taking certain doses for five days. Against the background of such therapy significantly reduced the level of bilirubin.

Introduction of nicotinic acid administered intravenously. Within 2-3 hours the concentration of bilirubin increases several times.

Genetic analysis on Gilbert's syndrome

This method of diagnosing a disease with lesions of the liver, which are accompanied by hyperbilirubinemia is the fastest and most effective. It is a study of DNA, namely gene UDFGT. If detected polymorphism UGT1A1, doctor confirms Gilbert's disease.

Genetic analysis on Gilbert's syndrome is also carried out for the prevention of hepatic crises. This test is recommended to hand over those who have to take drugs with hepatotoxic effect.

Treatment of Gilbert's syndrome

As a rule, special treatment when Gilbert's syndrome is not required. If you observe the appropriate mode, the bilirubin level is normal or slightly elevated, without causing symptoms.

Patients should avoid the heavy exercise, give up fatty foods and alcohol drinks. Undesirably large breaks between meals, fasting and taking some medications (anticonvulsants medications, antibiotics, and others.).

Periodically, your doctor may prescribe a course of hepatic - drugs that have a positive effect on the liver. These include drugs such as Geptral, Liv 52 Hofitol, Essentiale forte, Kars and vitamins.

Diet for Gilbert's syndrome - a prerequisite, as a healthy diet and favorably positive effect on the liver and bile excretion process. The day should be at least four meals in small portions.  Jaundice - a symptom of Gilbert's syndrome

When Gilbert's syndrome in the diet are allowed to include vegetable soups, low-fat cottage cheese, low-fat chicken and beef, crisp oatmeal, wheat bread, sour fruit, tea and fruit compote. Forbidden foods such as bacon, fatty meat and fish, ice cream, fresh pastries, spinach, sorrel, black pepper and coffee.

It is impossible to completely exclude meat and stick to vegetarianism, since in this type of food the liver does not get the essential amino acids.

In general, the prognosis for Gilbert's syndrome is favorable, since the disease can be considered one of the variants of the norm. People with this illness do not need treatment, and although elevated levels of bilirubin remains for life, it does not lead to an increase in mortality. Among the possible complications can be noted chronic hepatitis and cholelithiasis.

Couples where one spouse is the owner of this syndrome before planning pregnancy should consult a specialist genetics that determine the probability of occurrence of the disease in the unborn child.

Specific disease prevention Gilbert does not exist, because it is genetic, but adhering to a healthy lifestyle and regular medical examinations passed, can be timely to stop the disease, which provoke the exacerbation of the syndrome.