Answer :USMLE step 2 Mcq 232:A 23 year old white male occasionally spontaneously develops a yellowish hue to both his skin and his sclera

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Correct Answer: A

Explanation:
Gilbert's Syndrome is the most likely diagnosis. The yellow of his skin and sclera is called jaundice which is due to the hyperbilirubinemia. Another term for jaundice is icterus. With Gilbert's syndrome, jaundice can be first noticed with fasting. In this case, it was brought on by fasting. In Gilbert's syndrome, there is a mild intermittent unconjugated hyperbilirubinemia and normal liver function tests. The liver histology is unremarkable; however performing a liver biopsy usually is not needed. The course of the disease is relatively innocuous and usually there are no symptoms other than intermittent and chronic jaundice. Gilbert's Syndrome is due to defect in bilirubin metabolism; specifically a decreased hepatic UDP-glucuronyl transferase activity.Type I Crigler-Najjar Syndrome usually results in death in infancy. The plasma bilirubin is also usually much more elevated than in Gilbert's syndrome.Type II Crigler-Najjar usually presents with a higher plasma bilirubin than Gilbert's and it is both a conjugated and unconjugated bilirubin.Dubin-Johnson Syndrome will show some changes on liver biopsy. In Dubin Johnson Syndrome there is a conjugated and unconjugated hyperbilirubinemia. The conjugated bilirubin is about 60% of the plasma bilirubin.In Rotor's Syndrome there is a conjugated and unconjugated hyperbilirubinemia. The conjugated bilirubin is about 60% of the plasma bilirubin.


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