Gilbert's syndrome

The table below provides a comprehensive overview of Gilbert syndrome, a common autosomal recessive disorder affecting bilirubin metabolism. It highlights key aspects, such as its definition, epidemiology, clinical presentation, diagnostic criteria, differential diagnoses, significance, and important considerations for primary care clinicians.

Aspect	Details
Definition	♦ Autosomal recessive disorder affecting bilirubin metabolism, leading to unconjugated hyperbilirubinemia and recurrent jaundice. ♦ Characterized by UGT1A1 gene mutations on chromosome 2, causing reduced bilirubin conjugation. ♦ Symptoms exacerbated by factors like stress, exertion, fasting, alcohol, and infection.
Epidemiology	• Prevalence: Approximately 3–10% in the general population. • Jaundice may become apparent in adolescence.
Presentation	• Mild, chronic, unconjugated hyperbilirubinemia without hepatic injury or hemolysis. • Bilirubin levels may rise with triggering factors.
Diagnosis	• Clinical diagnosis based on recurrent jaundice episodes. • Genetic testing reveals mutations in the UGT1A1 gene.
Tests	◘ Normal liver function tests and absence of hemolysis. ◘ Elevated unconjugated bilirubin levels.
Differentials	○ Unconjugated Hyperbilirubinemia: - Increased Bilirubin Production: Conditions like extravascular and intravascular hemolysis, resorbing hematoma, and dyserythropoiesis can lead to higher bilirubin production. ○ Impaired Hepatic Bilirubin Uptake: Heart failure, portosystemic shunts, and some medications can interfere with bilirubin uptake by the liver. ○ Impaired Bilirubin Conjugation:...

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