Gilbert's syndrome

Gilbert's Syndrome

Diagram of bilirubin metabolism

Gilbert's syndrome is a common, mild liver disorder in which the liver does not properly process bilirubin. Bilirubin is a substance produced by the breakdown of red blood cells. Gilbert's syndrome is characterized by an increase in unconjugated bilirubin in the bloodstream, leading to mild jaundice.

Pathophysiology

Gilbert's syndrome is caused by a genetic mutation in the UGT1A1 gene, which encodes the enzyme uridine diphosphate glucuronosyltransferase (UGT). This enzyme is responsible for the conjugation of bilirubin, making it water-soluble and allowing it to be excreted in bile. In individuals with Gilbert's syndrome, the activity of UGT is reduced, leading to an accumulation of unconjugated bilirubin in the blood.

Clinical Presentation

Most individuals with Gilbert's syndrome are asymptomatic and may not be aware they have the condition. When symptoms do occur, they are usually mild and may include:

• Mild jaundice, particularly during periods of fasting, stress, or illness
• Fatigue
• Abdominal discomfort

Diagnosis

Gilbert's syndrome is often diagnosed incidentally during routine blood tests that show elevated levels of unconjugated bilirubin. Further tests may include:

• Liver function tests
• Genetic testing for mutations in the UGT1A1 gene

Management

Gilbert's syndrome is a benign condition that typically does not require treatment. Management focuses on lifestyle modifications to avoid factors that may exacerbate jaundice, such as:

• Maintaining a regular eating schedule
• Managing stress
• Avoiding fasting

Related Conditions

Gilbert's syndrome should be differentiated from other causes of hyperbilirubinemia, such as:

• Crigler-Najjar syndrome
• Dubin-Johnson syndrome
• Rotor syndrome

Related Pages

• Liver function tests
• Jaundice
• Bilirubin