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May 6, 1974

Hemochromatosis (Iron-Storage Disease)

JAMA. 1974;228(6):743-752. doi:10.1001/jama.1974.03230310051033

Dr. Sacks: A 47-year-old housewife was first seen at Scripps Clinic and Research Foundation in October 1972 for evaluation of cardiac failure of undetermined cause.

Two years earlier, the gradual development of easy fatigability, dyspnea, a sensation of chest tightness, and swelling around the ankles had begun. Later, a nocturnal dyspnea and cough became prominent. There were frequent episodes of tachycardia of both sudden onset and sudden cessation, and she observed that her neck veins were prominent and pulsatile. Her personal physician confirmed that she was in cardiac failure and attributed the dusky appearance of her skin to cyanosis. An electrocardiogram (Fig 1) was essentially normal, but a chest roentgenogram (Fig 2) showed cardiomegaly and small bilateral pleural effusions. She was given digitalis and a diuretic agent, and improved rapidly. Over the next few months, however, her dyspnea and fatigability once again became progressive, despite therapy, and she could not