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Gilbert Syndrome 🧬🟡 | Benign Hyperbilirubinemia| USMLE Step 1 Biochemistry : Dr G Bhanu Prakash

Gilbert Syndrome is a benign, inherited disorder of bilirubin metabolism, often tested on USMLE Step 1 because of its classic presentation: intermittent, mild unconjugated hyperbilirubinemia in an otherwise healthy individual. It is caused by a mutation in the UGT1A1 gene, leading to reduced activity of UDP-glucuronosyltransferase, the liver enzyme responsible for conjugating bilirubin. As a result, the liver’s ability to clear unconjugated (indirect) bilirubin is mildly impaired.

Gilbert syndrome follows an autosomal recessive inheritance pattern and typically becomes apparent in adolescence or early adulthood. It is often discovered incidentally during routine lab tests or when mild jaundice is triggered by fasting, stress, illness, menstruation, dehydration, or exercise. Importantly, liver function tests (LFTs), hemoglobin, and other lab values remain completely normal, helping distinguish it from more serious hepatic or hemolytic conditions.

The condition is clinically silent and requires no treatment. Patient reassurance is key, as it does not progress to liver disease or require dietary or medication restrictions. Understanding Gilbert syndrome helps avoid unnecessary investigations for isolated hyperbilirubinemia.

This high-yield video covers the genetic basis, clinical presentation, lab findings, differential diagnosis, and Step 1 mnemonics to help you confidently recognize Gilbert Syndrome on exam day.

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