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August 20, 1960


JAMA. 1960;173(16):1841-1844. doi:10.1001/jama.1960.73020340011019b

Idiopathic hemochromatosis is a rare chronic disease characterized clinically by hepatomegaly, pigmentation of the skin, and diabetes mellitus, resulting from massive iron deposits in the tissues. Herein reported is a case diagnosed by means of significant clinical and laboratory data and proved at autopsy.

Report of a Case  A 56-year-old man was first seen April 25, 1958, complaining of progressive darkening of his skin, itching, marked fatigue, muscle aches, and impotence.He had had a complete diagnostic evaluation in 1948 elsewhere because of the pigmentation and a duodenal ulcer. Adrenal cortical hypofunction (Addison's disease) was considered at that time because of the pigmentation, a 3.4-mg.-per-24-hour 17-ketosteroid excretion, and a normal fasting blood sugar level. The patient's history was otherwise normal, except that he had had a heavy alcohol intake prior to 1950. There was no history of anemia, excessive iron intake, or repeated blood transfusions. Family history was noncontributory.Physical