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USMLE Step 1 – Gilbert’s Syndrome

Pathophysiology
1. Disease of decreased bilirubin conjugation and impaired clearance of bilirubin
2. Caused by defective UDP glucuronyltransferase activity

Signs and Symptoms
1. Relatively mild clinically with some reports of mild malaise and weakness
2. Jaundice during periods of fasting, illness, and alcohol intake
3. Usually diagnosed at puberty

Characteristic Test Findings
1. Mild unconjugated hyperbilirubinemia ( 2. Other liver tests are normal
3. Mild hemolysis

Histology/Gross Pathology
Sometimes with increased lipofuscin pigment

Associated Conditions
1. Conditions that cause increased serum bilirubin in normal people (starvation, illness) cause and exaggerated increase in Gilbert’s disease
2. Abnormal metabolism of acetaminophen (Tylenol), tolbutamide, rifamycin, and estradiol

Biochemistry
1. Gene for glucuronyl transferase is normal
2. Errors in promoter region cause reduced transcription, which results in inadequate enzyme production

Inheritance/Epidemiology
1. Familial inheritance, with reports of both autosomal dominant and recessive forms existing – most cases seem to be autosomal recessive
2. Male to female, 5:1
3. Usually presents after puberty
4. Occurs in 5-10% of people

Tips for the USMLE
1. Bile is normal color
2. Phenobarbital causes bilirubin to normalize

Lillian Thompson By Lillian Thompson

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