Gilbert syndrome is an autosomal-dominant disorder, asymptomatic, benign jaundice.
Most common hereditary hyperbilirubinemia (genotypic prevalence 12%)
5% of the U.S.A population
Male:female ratio of 3:1
Nature of the defect: The pathogenesis of Gilbert syndrome has been linked to a reduction in the bilirubin UGT-1 gene (HUG-Brl) transcription, resulting from a mutation in the promoter region. The extent of this deficit, between 20 and 70% of the normal value, determines the different clinical expression and symptomatic severity (jaundice) of the disease.
Decreased elimination of bilirubin in bile is caused by inadequate conjugation of bilirubin.
Conditions such as: fasting, semi-fasting, alcohol ingestion, stress, fever, infections, increased physical activity, can lead to an increase in bilirubinemia values.
About one third of patients with the syndrome are completely asymptomatic. Other patients complain of nonspecific complaints such as abdominal pain, fatigue, headaches, and malaise. Hyperbilirubinemia increased rapidly within 24 to 36 hours.
No abnormalities on physical examination except mild jaundice when bilirubin exceeds 3 mg/dL.
There may be a family history of unconjugated hyperbilirubinemia.
Liver disease (chronic hepatitis, cirrhosis)
Elevated indirect (unconjugated) bilirubin (rarely exceeds 5 mg/dl).
Laboratory evaluation to exclude hemolysis and liver diseases as a cause of the elevated bilirubin level.
It is a benign alteration. Treatment is generally unnecessary.
If clinical jaundice is present, Phenobarbital can rapidly decrease serum indirect bilirubin level.
The prognosis is excellent.Keep in mind that Gilbert’s syndrome reduces the liver’s ability to detoxify certain drugs. This fact is especially important if the patient has to undergo chemotherapy.