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
Dines DE, Anthony CW, Bell RF. IDIOPATHIC HEMOCHROMATOSIS. JAMA. 1960;173(16):1841-1844. doi:10.1001/jama.1960.73020340011019b