Gilbert's syndrome. Its diagnosis, consequences

Gilbert syndrome, what is this disease? Gilber's syndrome is the most mild clinical variant of functional hyperbilirubinemia. This disease speaks about the mutation of the gene UGT1A1. Because of it, an enzyme UDF is encoded. Gilbert's syndrome is characterized by the following:

1. Increased content of bilurbin in the blood
2. Partial insufficiency of glucuronyltransferase
3. Lack of liver change
4. Reduction of elevated bilirubin due to the action of phenobarbital

For the first time Gilbert's Syndrome was discovered in 1901 by French doctors Gilbert Nicolas Augustin and Lereboullet P. They identified the syndrome as "family cholemia." After that, several names were suggested, but settled on the Gilbert syndrome. This syndrome is often found in men aged 25-30 years.

Symptoms characteristic of the disease

The person has a fast fatigue, in the right upper quadrant there are colic. The main manifestation of the syndrome is nervousness and colored skin color. It also happens that jaundice is not noticeable, and a person learns of the disease only after the biochemical examination of the organism has passed. There are two types of illness: episodic and chronic. If a person physically overloads his body, then Jaundice can manifest. In addition, alcohol abuse, fasting can be a "start" for the development of the disease.

Gilbert's syndrome diagnosis.

The total bilubirin during this disease can be at the level of 21-51 μmol / l, with the possibility of raising the level to 85-130 μmol / l. To detect this disease, it is necessary to undergo a special diagnosis. It can be of several kinds.

1. Sample with starvation. Basically, a low-calorie diet is used, less often - fasting for 48 hours. At the same time, the concentration of bilirubin in the blood increases.
2. Sample with phenobarbital. The use of this drug leads to stimulation of the activity of the enzyme glucuronyltransferase, as a result of which the level of bilirubin decreases.

Treatment of the disease

There is no special treatment, mainly, because it is a feature of the body, not a disease. Just a patient is contraindicated in excess loads, he must adhere to a special diet. Alcoholic beverages for such a person should be banned, because their use can lead to the development of the disease. But it is worth remembering that in cases of Gilbert's syndrome, you should not give up vaccinations. During the strengthening of jaundice, doctors prescribe a certain diet, prescribe vitamin therapy.

Gilbert's syndrome consequences

Those who have Gilbert syndrome, are interested in the consequences, and also how the disease affects the liver. Some may not have consequences at all, but it is better to do ultrasound of the liver, as well as to pass a blood test for bilirubin. In order for the liver to remain intact upon detection of Gilbert's syndrome, it is necessary to adhere to a diet, and also to limit oneself in physical exertion. Sometimes the consequences of this disease can manifest as transient pigmentary hepatosis. In general, such effects are observed in men. Therefore, men who suffer from the syndrome need to monitor their health.

What are the predictions of the patient?

This disease can be considered a variant of the norm. Such people are considered to be practically healthy, especially since they do not need special treatment. Despite the fact that hyperbilirubinemia can persist for life, Gilbert's syndrome does not lead to death. There is a possibility of development of psychosomatic disorders, as well as cholelithiasis. The consequences of this disease may not appear until the age of 20, but accompany a person always, especially since the heredity factor can act. The most important thing is that this disease does not particularly affect the life activity of a person.