Gilbert Syndrome with Case

00:00 Let's move on to a next case, A 30-year-old man with no past medical history is seen in clinic for intermittent yellowing of his eyes.

00:09 He currently feels well with no complaints.

00:12 Two weeks ago, he noticed his eyes turn yellow for a few days.

00:16 He had a seasonal cold virus at that time.

00:19 It resolved without any intervention.

00:22 Vitals are normal, physical exam is unremarkable and there is no hepatosplenomegaly.

00:27 His labs show a total bilirubin of 2.5 (mg/dL) with direct bilirubin 0.4 (mg/dL).

00:34 His CBC, AST, ALT, alkaline phosphatase, and GGT and Albumin are all normal, and the peripheral smear is also normal.

00:43 So what is the most likely diagnosis? So, let's review.

00:49 He is a young, healthy male, with intermittent jaundice that occurs during periods of stress as noted when he had this occurred during a cold virus.

00:59 He has a mild isolated, unconjugated hyperbilirubinemia.

01:05 But the rest of his lab studies are fairly normal.

01:08 So, that brings us back to our diagnostic algorithm for hyperbilirubinemia.

01:13 We can hone in on the fact as mostly unconjugated or indirect hyperbilirubinemia and it's an isolated bilirubin elevation.

01:23 So that brings to either hemolysis, Gilbert Syndrome or Crigler-Najjar Syndrome.

01:28 We return to our case at this point.

01:31 We also noticed here that he has a normal peripheral smear.

01:36 This indicates that he has no ongoing hemolysis.

01:39 So now, we know our most likely diagnosis is Gilbert Syndrome.

01:44 You might have noticed that Crigler-Najjar is also on the differential here but it is a congenital condition, so usually it would present earlier in life and would not present at the age of 30.

01:57 Thank you very much for your attention.