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Gilbert's syndrome - a hereditary hyperbilirubinemia

disease (syndrome) Gilbert is a hereditary disease, which manifests itself by jaundice, intermittent or constant increase of bilirubin in the blood and other symptoms.Gilbert's syndrome - the disease is not dangerous and does not require special treatment.

Causes Gilbert's syndrome

Gilbert's syndrome - a genetic disorder that occurs due to a lack glyukuroniltransferazy (special liver enzyme), participate in the exchange of bilirubin.With a lack of this enzyme in the liver can not be linked indirect bilirubin, which is why its level in the blood, and jaundice.

symptoms of Gilbert's syndrome

People with Gilbert's syndrome complain of fatigue (asthenia) and constant discomfort in the right hypochondrium.The main symptoms of Gilbert's syndrome are ikterichnost subikterichnost and sclera (jaundice skin color observed in the minority of patients).Often minor jaundice mistaken for a light tan, so it remains undetected and accidentally found in the biochemical research.

Jaundice can be episodic or chroni

c itching of the skin when it is not observed.Jaundice occurs or worsens alcohol abuse at the time of infectious diseases, starvation and physical exertion.The classic syndrome of the disease, according to the description of Gilbert, is a triad: the yellow color of the skin, eyelids xanthelasma and telangiectasia on his face.

Gilbert syndrome total bilirubin, usually ranges from 21 mmol / l to 51 mmol / l.Under the influence of disease or physical stress rises to 85 memol / l - 140 mmol / L.

Diagnostics Gilbert syndrome

Gilbert's syndrome is diagnosed with special tests - try to phenobarbital and shot from starvation.When receiving the pentobarbital stimulated glyukuroniltrasferaza (liver enzymes), thereby reducing the level of bilirubin.

sample with fasting is rarely used.Fasting or 48-hour calorie diet (400 kcal per day), serum bilirubin concentration is increased by 50 - 100 percent.Determine the level of bilirubin in the morning on an empty stomach the day of the trial and two days later.It is still unknown the reason why fasting bilirubin rises.

Direct DNA diagnosis of Gilbert's syndrome can be carried in the genetic laboratory of the Center of medical and genetic counseling.With such a diagnosis is investigated promoter region of the gene UGT1A1.

Gilbert's syndrome is differentiated primarily with hemolytic jaundice.In a study first determined the amount contained in the blood reticulocyte count and examine the properties of red blood cells.For hemolytic disorders usually characterized by manifestations in early childhood mild anemia and splenomegaly.

syndrome Gilbert's bilirubin levels are usually lower than in hemolytic jaundice.

Treatment of Gilbert's syndrome

People with Gilbert's syndrome usually do not need special treatment, because it is not a disease, and genetically determined individual feature of an organism.For good health it is necessary to comply with diet, work and rest.When Gilbert's syndrome is not recommended restrictions on drinking, significant interruptions in food, sun exposure, professional sports, great physical exertion, highly undesirable fatty foods and alcoholic beverages.When Gilbert's syndrome contraindications to vaccination is not available.

If in acute jaundice increases, then the prescribed Cholagogue, vitamin therapy and sparing diet № 5. But usually this is not required, jaundice goes by itself.

When the bilirubin level of 50 mmol / L and you feel unwell usually prescribe a short course of phenobarbital (30 - 200 mg per day) for two to four weeks.

Phenobarbital contained in such formulations as valokordin and Corvalol, so many three times a day take 20-25 drops of these drugs.However, on the positive effect of this treatment is seen in few patients.It is also recommended course of taking hepatoprotectors: Chophytol, legalon, CHL-5, Kars.It is desirable in the liver, any thermal physiotherapy.


outlook does not inspire concern, since by and large Gilbert's syndrome is a variant of the norm.People with Gilbert's syndrome occurs almost healthy.When lifelong preservation of hyperbilirubinemia increased mortality were observed.Perhaps the development of psychosomatic disorders and cholelithiasis.