Gilbert's syndrome (Gilbert's disease, non-hemolytic family jaundice, simple family cholemia, constitutional hyperbilirubinemia) is a hereditary disease with a benign course, caused by a mutation of the gene responsible for neutralizing bilirubin in the liver. The disease was named after the French gastroenterologist Augustine Nicolas Gilbert, who first described it in 1901. Gilbert's syndrome usually manifests itself as an elevated level of bilirubin in the blood, jaundice and some other specific signs that are not dangerous and do not require urgent treatment.
Symptoms of Gilbert's Syndrome
The main symptoms of this disease include the following:
- Jaundice, when first observed icteric staining of the sclera of the eye (from almost imperceptible to pronounced). In rare cases, there may be a discoloration of the skin in the nasolabial triangle, palms, armpits.
- Discomfort in the right hypochondrium, in some cases, there may be a slight increase in liver size.
- General weakness and fatigue.
- In some cases, nausea, eructations, stool disorders, intolerance to certain foods may occur.
The cause of Gilbert's syndrome is a deficiency in the liver of a special enzyme (glucuronyltransferase), which is responsible for the exchange of bilirubin. As a result, only up to 30% of the usual amount of this bile pigment is neutralized in the body, and the excess accumulates in the blood, causing the most frequent symptom of this disease - jaundice.
Diagnosis of Gilbert's Syndrome
The diagnosis of Gilbert's syndrome is usually based on blood tests:
- The total bilirubin in Gilbert's syndrome ranges from 21 to 51 μmol / l, but may increase to 85-140 μmol / l under the influence of physical exertion or against other diseases.
- Sample with starvation. Refers to specific (not very common) tests for Gilbert's syndrome. Against the backdrop of fasting or compliance within a two-day low-calorie diet, bilirubin in the blood rises by 50-100%. Measurements of bilirubin are performed on an empty stomach before the test, and then after two days.
- Sample with phenobarbital. When taking phenobarbital, the level of bilirubin in the blood drops sharply.
How to live with Gilbert's syndrome?
The disease itself is not considered dangerous and does not usually require specific treatment. Although the elevated level of bilirubin in the blood persists throughout life, but its dangerous level does not reach a dangerous level. The consequences of Gilbert's symptom are usually limited to external manifestations and slight discomfort, therefore, in addition to dieting, the treatment uses only the use of hepatoprotectors to improve liver function. And also (in rare cases, severe jaundice) taking drugs that help remove excess pigment from the body.
In addition, the symptoms of the disease are not permanent and most of the time can even be unnoticeable, increasing with greater physical exertion, alcohol consumption, starvation, colds.
The only thing that can be dangerous is Gilbert's syndrome - in rare cases, if the regime is not respected and eating disorders, it contributes to the development of inflammation of the biliary tract and cholelithiasis .
And it should be remembered that this disease is hereditary, so if there is a history of one of the parents, it is recommended to consult a geneticist before planning pregnancy.