Clinical presentation of hemochromatosis: a changing scene

To investigate the changing modes of clinical presentation and diagnosis in 93 patients with familial hemochromatosis and to compare the results with other reports from 1935 to the present.

The presenting features and the frequency of signs and symptoms were analyzed in 93 homozygotes from 56 families.

Hemochromatosis was detected by chance in 40% of the 56 probands. Abdominal pain (16%), joint pains (11%), and weakness (9%) were prominent features that brought the patient to the physician. Although 38% of the male patients had loss of libido and impotence, these were not identified as presenting features. Features of liver disease (84%), arthritis (11%), and diabetes (2%) led the physician to the diagnosis. Impotence and testicular atrophy were notable, by their absence, in alerting physicians to the presence of hemochromatosis. Screening of family members led to the detection of 37 homozygotes, of whom 46% were asymptomatic. Among this group, arthropathy and gonadal failure were the most common symptoms. The classic triad of hepatomegaly, diabetes, and pigmentation was present in only 8% of patients. Clinical features were rare in patients with less than 5 g of exchangeable body iron and invariably present in those with more than 16 g.

The presenting clinical features of hemochromatosis have changed since the original description of the disease in 1935. Family studies have led to the earlier discovery of more homozygous women and earlier detection with less iron loading and, as a result, fewer signs and symptoms.