A 60-year-old white man was evaluated for dyspnea on exertion. Hepatomegaly and abnormal skin pigmentation were noted, particularly in the upper extremities.
A 60-year-old white man was evaluated for dyspnea on exertion. Hepatomegaly and abnormal skin pigmentation were noted, particularly in the upper extremities.
The patient's plasma ferritin concentration was 2,410 µg/L; iron concentration, 247 µmol/L; and iron-binding capacity, 248 µg/dL. Liver biopsy findings were consistent with hemochromatosis: dense, fibrous septa with comparatively normal parenchyma and hemosiderin deposits highlighted by the Prussian blue reaction (A).
Drs Eugene Wong and Peter Petropoulos of Providence, RI, write that hemochromatosis results when surplus iron stored in body tissues leads to organ dysfunction. Consider the diagnosis in any patient with this pigmentation pattern who has diabetes, cardiomyopathy, or unexplained hepatomegaly.
The hyperpigmentation, characteristically golden brown or bronze, is generalized but appears most prominently on sun-exposed or traumatized areas. The pigmentation is largely attributed to melanin deposits in the dermis, not to iron deposition. The extent of this patient's hyperpigmentation is demonstrated when the skin color is compared with that of an unaffected white person (B).
The patient underwent weekly phlebotomy to decrease the ferritin level to 200 µg/dL. Drs Wong and Petropoulos report that phlebotomy improved the ferritin count, but the patient remains dyspneic on exertion.