This syndrome was first described in 1901 by a French physician Augustin Gilbert. It was previously thought to be a rare disease. After genetic testing appeared, it turned out that 7-10% of the world’s population suffers from it.
spoke about the features of this disease geneticist Alexander Reznik.
“Gilbert’s syndrome is a hereditary benign feature of the liver function, in which the metabolism of bilirubin is disturbed, and as a result, its level in the blood rises. This condition is called hyperbilirubinemia.
Gilbert’s syndrome is not the only disease associated with hyperbilirubinemia (two types of Crigler-Najjar syndrome, Rotor and Dubin-Johnson syndromes are also known), but it is he who occurs most often.
The syndrome is usually asymptomatic and is usually discovered incidentally during other tests that measure bilirubin levels. In such cases, to distinguish the syndrome from hepatitis, doctors look at bilirubin fractions and liver tests, which are normal in Gilbert’s syndrome but not in liver disease.
This condition can worsen with prolonged starvation, stress, after serious physical exertion, lack of sleep, during menstruation, dehydration, alcohol intoxication, and is usually manifested by general discomfort, icterus of the sclera and skin. The exacerbation usually goes away on its own.
According to most modern recommendations, there is no need to treat Gilbert’s syndrome, it is defined more as a hereditary feature of the body, and not a disease.
How is the diagnosis made?
“The diagnosis of “Gilbert’s syndrome” can be made if a patient has an increase in the level of bilirubin in a biochemical blood test against the background of normal ALT and AST levels, as well as according to a genetic examination. A genetic examination reveals a mutation in the gene that codes for a certain protein, says gastroenterologist Natalia Morozova – with regard to prevalence, in Europe about 5% of the population suffer from Gilbert’s syndrome, in Asia – about 3%. Most of all, this syndrome is common among the inhabitants of the African continent, where virtually every third person is ill.