Slide 1: Meet your patient. Chief complaint: 46yo M with type 2 DM and alcohol abuse disorder presents with abdominal pain after alcohol binge. Exam findings: afebrile and mildly jaundiced. Lab results: Admission labs significant for AST 988, ALT 278, T. bili 4.0, D. bili 2.0, lipase 500, iron 252, TIBC 244. Imaging: CT abdomen/pelvis is normal.

Slide 2: The question at hand: What diagnosis BEST explains this patient’s presentation? A) Pancreatitis. B) Alcoholic hepatitis. C) Hemochromatosis. D) Cholecystitis. E) Cholangitis.

Slide 3: The explanation. Excessive alcohol use is a major risk factor of disease progression in hereditary hemochromatosis (HH).

Slide 4: Clinical pearls. Transferrin saturation (iron/TIBC) is the screening test of choice for HH. Cutoffs of >45% (women and >50% (men) are consistent with the diagnosis of iron overload. HH is only one of many etiologies of iron overload and genetic testing should be pursued to confirm the diagnosis.

References

  • Adams PC, Barton JC. Haemochromatosis. Lancet. 2007 Dec 1;370(9602):1855-60. PMID 18061062
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