Gilbert's syndrome, what is this disease? Gilbert's syndrome is the mildest clinical variant of functional hyperbilirubinemia. This disease indicates a mutation in the UGT1A1 gene. Because of it, a certain enzyme UDF is encoded. Gilbert's syndrome is characterized by the following:
- High blood bilurbin
- Partial glucuronyl transferase deficiency
- No liver changes
- Reduced elevated bilirubin due to phenobarbital
Gilbert's syndrome was first discovered in 1901 by French doctors Gilbert Nicolas Augustin and Lereboullet P. They referred to the syndrome as "family cholemia." After which several names were suggested, but settled on Gilbert's syndrome. This syndrome is often found in men aged 25-30 years.
Symptoms characteristic of the disease
A person experiences fatigue, colic occurs in the right hypochondrium. The main manifestation of the syndrome is nervousness and colored skin color. It also happens that yellowness is not noticeable, and a person learns about the disease only after a biochemical study of the body has passed. There are two types of disease: episodic and chronic. If a person physically overloads his body, then jaundice may occur. In addition, alcohol abuse, starvation can be the "start" for the development of the disease.
Gilbert's syndrome diagnosis.
Total bilubirin during this disease can be at the level of 21-51 micromol / L, while there is the possibility of increasing the level to 85-130 micromol / L. To identify this disease, it is necessary to undergo a special diagnosis. It can be of several types.
- Test with fasting. Mostly a low-calorie diet is used, less often - fasting for 48 hours. In this case, the concentration of bilirubin in the blood increases.
- Sample with phenobarbital. The use of this medication leads to stimulation of the activity of the enzyme glucuronyltransferase, resulting in a decrease in bilirubin levels.
Disease treatment
There is basically no special treatment, because this is a feature of the body, not a disease. Excessive loads are simply contraindicated for the patient, he must adhere to a special diet. Alcoholic beverages for such a person should be banned, because drinking them can lead to the development of the disease. But it is worth remembering that in cases of disease with Gilbert's syndrome, one should not refuse vaccinations. During an increase in jaundice, doctors prescribe a certain diet, prescribe vitamin therapy.
Gilbert's syndrome consequences
Those with Gilbert's syndrome are interested in the consequences, as well as how the disease will affect the liver. Some may not have consequences at all, but it is still better to do an ultrasound of the liver, as well as take 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, as well as limit yourself to physical activity. Sometimes the consequences of this disease can manifest as transient pigmented hepatosis. Basically, such effects are observed in men. Therefore, men with the syndrome need to monitor their health.
What are the predictions for patients?
This disease can be considered a variant of the norm. Such people are considered practically healthy, especially since they do not need special treatment. Although hyperbilirubinemia can persist for life, Gilbert syndrome does not result in death. There is a likelihood of developing psychosomatic disorders, as well as cholelithiasis. The consequences of this disease may not appear until 20 years, but they always accompany a person, especially since the heredity factor can act. Most importantly, this disease does not particularly affect the life of a person.