From the Guidelines
Gilbert syndrome is a benign condition that does not require further management, and individuals with this condition can be reassured that it does not cause liver damage or serious health problems. This condition is characterized by a partial deficiency of the enzyme UGT1A1, leading to elevated levels of unconjugated bilirubin in the blood, especially during periods of fasting, illness, stress, or physical exertion 1. According to the most recent guidelines, Gilbert syndrome affects approximately 5% of the American population and is a common cause of isolated elevated bilirubin concentration 1.
Key Characteristics of Gilbert Syndrome
- Elevated levels of unconjugated bilirubin in the blood
- Partial deficiency of the enzyme UGT1A1
- Benign condition that does not cause liver damage or serious health problems
- More commonly diagnosed in males
- Affects approximately 5% of the American population
Management and Recommendations
- No treatment is typically required for Gilbert syndrome
- Individuals with Gilbert syndrome should inform healthcare providers about their condition to avoid unnecessary testing when mild jaundice appears
- Maintaining good hydration and regular meals may help minimize episodes of jaundice
- Patients with Gilbert's syndrome can fast Ramadan with regular follow up of their bilirubin level, as advised by recent reviews 1
- No dietary restrictions or lifestyle modifications are necessary, as supported by recent guidelines 1
From the Research
Definition and Diagnosis of Gilbert Syndrome
- Gilbert syndrome is a genetic disorder characterized by a mild increase in unconjugated bilirubin levels in the blood, resulting in jaundice 2.
- The diagnosis of Gilbert syndrome can be established with relative certainty if the patient has a mild hyperbilirubinemia with a high fraction of unconjugated bilirubin, normal values of liver enzymes, and no overt signs of hemolysis 2.
- Liver biopsy is not mandatory for the diagnosis of Gilbert syndrome 2.
Differentiation from Other Conditions
- Gilbert syndrome can be differentiated from acute hepatitis by the fraction of plasma unconjugated bilirubin of total bilirubin, which is significantly different in all three groups examined 2.
- Crigler-Najjar syndrome type II is a more severe condition caused by mutations in the UGT1A1 gene, resulting in severely reduced hepatic activity of UDP-glucoronyltransferase 3.
- Hereditary spherocytosis can also cause jaundice and can co-exist with Gilbert syndrome, leading to exaggerated hyperbilirubinemia 4.
Treatment and Management
- Phenobarbital treatment can reduce the level of unconjugated serum bilirubin in patients with Gilbert syndrome or acute hepatitis 2.
- Phototherapy can be useful in reducing bilirubin levels in patients with severe jaundice, but may not be effective in all cases 5.
- Education of the patient and their family about the disease is important, especially in cases where the patient has a high risk of developing complications such as kernicterus 3.
Genetic and Biochemical Aspects
- Gilbert syndrome is associated with a partial deficiency of the enzyme UDP-glucoronyltransferase, which is responsible for converting bilirubin into a more soluble form 5.
- The UGT1A1 gene is responsible for encoding this enzyme, and mutations in this gene can lead to Gilbert syndrome or more severe conditions such as Crigler-Najjar syndrome type II [(3,5)].
- A novel deletion in the ABCC2 gene has been found to be associated with dual hereditary jaundice, a combination of Dubin-Johnson and Gilbert's syndromes 6.