Hi all,
I am looking for opinions on a 23-yo, seemingly healthy pt presenting with elevated levels of total and direct bilirubin, in the absence of elevated enzymes or hemolysis. Labs have been intermittently monitored since December of last year and include a peak total bili of 2.9 mg/dL (at which time the direct was 1 mg/dL), and a recent low of 1.9 and 0.7, respectively. Fe/ferritin, ceruloplasmin, Alpha-1, hep panel, etc. were all normal. Three ultrasounds (general, vascular, elastographic) were performed--all normal. Mild scleral icterus is present and the pt reports rapid gastric motility (floating stools 2x/day), accompanied with bloating.
So... the Hep has diagnosed Gilbert's, and I just cannot wrap my mind around this. I have reviewed not a single study indicating that Gilbert's would present with a consistently and overtly mixed bili fractionation. The literature is explicit: Gilbert's is a pre-hepatic, unconjugated hyperbilirubinemia. Conversely, I am concerned that the conjugated levels are too low to consider Rotor syndrome (not to mention the extreme rarity of that condition). Fecal analysis has not been performed, which I realize may be a limitation.
My question is, could this realistically be a Gilbert's variant, or is this an inaccurate diagnosis of exclusion? Does the presentation suggest early hepatobiliary disease or other as yet unidentified obstruction (malignancy, stone, etc.)?
Thoughts are very much appreciated!
I am looking for opinions on a 23-yo, seemingly healthy pt presenting with elevated levels of total and direct bilirubin, in the absence of elevated enzymes or hemolysis. Labs have been intermittently monitored since December of last year and include a peak total bili of 2.9 mg/dL (at which time the direct was 1 mg/dL), and a recent low of 1.9 and 0.7, respectively. Fe/ferritin, ceruloplasmin, Alpha-1, hep panel, etc. were all normal. Three ultrasounds (general, vascular, elastographic) were performed--all normal. Mild scleral icterus is present and the pt reports rapid gastric motility (floating stools 2x/day), accompanied with bloating.
So... the Hep has diagnosed Gilbert's, and I just cannot wrap my mind around this. I have reviewed not a single study indicating that Gilbert's would present with a consistently and overtly mixed bili fractionation. The literature is explicit: Gilbert's is a pre-hepatic, unconjugated hyperbilirubinemia. Conversely, I am concerned that the conjugated levels are too low to consider Rotor syndrome (not to mention the extreme rarity of that condition). Fecal analysis has not been performed, which I realize may be a limitation.
My question is, could this realistically be a Gilbert's variant, or is this an inaccurate diagnosis of exclusion? Does the presentation suggest early hepatobiliary disease or other as yet unidentified obstruction (malignancy, stone, etc.)?
Thoughts are very much appreciated!