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Question

57yo Caucasian male presents to his primary provider with a one-year history of joint pain, weakness, and fatigue. He has a past medical history significant for hypertension and hyperlipidemia, for which he is being treated and is controlled on medications. His wife reports his skin has become a little darker over the last year as well. The rest of his physical examination does not reveal any abnormalities. Routine chemistries show a glucose of 214 mg/dL, AST of 472 mg/dL, and ALT of 513 mg/dL. What two (2) laboratory studies should be ordered next?

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Answer

Hemochromatosis is at the top of the differential in a patient with elevated transaminases, heart disease, arthropathy, and hyperpigmented skin changes. As part of the initial screening, iron studies should be performed and an elevated transferrin saturation and serum ferritin are both elevated in hemochromotosis.

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References

• Bacon BR, Adams PC, Kowdley KV, Powell LW, Tavill AS, . Diagnosis and management of hemochromatosis: 2011 practice guideline by the American Association for the Study of Liver Diseases. Hepatology (Baltimore, Md.). 2011; 54(1):328-43. [pubmed]