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  • 52 year old Hispanic male with a concern for hereditary spherocytosis.
  • PCP submitted consult and provided lab results for specialist interpretation.
  • Specialist provided recommendations for next steps regarding patient workup.

eConsult Transcript

PCP submission

52 year old Hispanic male is a new patient to me. I have discovered that he has elevated blood glucose levels (>200), but a normal hemoglobin A1c. He also has elevated total bilirubin and a family history of hereditary spherocytosis (son with HS). In further lab analysis, his hemoglobin is 14, elevated bilirubin is indirect, LDH is 144, reticulocyte count is 4.73%. His peripheral smear was read showing absolute neutrophilia, without blasts. Spherocytes were not mentioned.

Hematology has told me that given no spherocytes on peripheral smear and no anemia; they would have a low suspicion for hereditary spherocytosis. What would you recommend as further work-up to establish the diagnosis?

Specialist response

That’s correct. Great question and great job on the work up. With the elevated indirect bilirubin, the elevated reticulocyte count and the minimally elevated LDH, this brings into question a hemolytic anemia; based on the peripheral smear this is less likely however. There are numerous potential causes of the elevated indirect bilirubin, reticulocyte count and LDH. Things like Vasculidities, Rheumatologic disease, etc. can cause these. If I were seeing a patient like this in GI clinic, I would set them up for a right upper quadrant abdominal ultrasound. As long as the ultrasound looks good, they need further work up with either Hematology or Rheumatology. If these are all normal, I would probably set them up with hematology. The elevated bilirubin may be secondary to Gilbert syndrome. The elevated reticulocyte count and LDH Bring into question numerous other hematological and rheumatologic disorders. The hyperbilirubinemia is mostly indirect With a normal direct bilirubin and normal LFTs otherwise, makes an obstructive process less likely. Gilberts syndrome is actually fairly common, between four and 16% depending on which studies we read. Things that can increase the bilirubin production and cause jaundice or elevated bilirubin in Gilberts syndrome are fasting, physical exertion, stress, menses in females and hemolysis. Thank you American college of gastroenterology, 2017 guidelines on abnormal liver chemistries.

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