What syndrome is associated with benign congenital unconjugated hyperbilirubinemia?

Prepare for USMLE Step 1 Pathology Exam with comprehensive quizzes, flashcards, and detailed explanations. Enhance your understanding and be exam-ready!

Gilbert's syndrome is indeed associated with benign congenital unconjugated hyperbilirubinemia. This condition is characterized by a mild elevation of unconjugated bilirubin in the blood due to a genetic deficiency in the enzyme responsible for bilirubin conjugation in the liver, specifically the uridine diphosphate glucuronosyltransferase (UGT1A1) enzyme.

Individuals with Gilbert's syndrome often experience episodes of jaundice, particularly during periods of fasting, illness, or stress, but generally do not have significant clinical symptoms or complications. The condition is quite common and usually discovered incidentally during routine blood tests showing elevated bilirubin levels. It's considered benign because it does not lead to severe liver dysfunction or require treatment.

In contrast, the other syndromes mentioned involve different mechanisms or result in more severe clinical consequences. For example, Dubin-Johnson syndrome and Rotor syndrome are associated with conjugated hyperbilirubinemia, while Crigler-Najjar syndrome is a more serious genetic disorder that can lead to severe unconjugated hyperbilirubinemia, requiring treatment due to the risk of kernicterus, a type of brain damage caused by excessive bilirubin.

Subscribe

Get the latest from Examzify

You can unsubscribe at any time. Read our privacy policy