Hematochromatosis is inherited as an autosomal recessive disorder. A family history is valuable but may be absent.
Classic findings of hemochromatosis:
(1) darkening of the skin ("bronze")
(2) diabetes mellitus
(3) heart failure
(4) cirrhosis
(5) abnormally high percent transferrin saturation serum ferritin
Occasionally a patient presents only with heart failure without any other clinical findings..
Cardiac manifestations:
(1) left ventricular systolic dysfunction progressing to heart failure
(2) cardiomyopathy which is usually dilated/congestive but which rarely may be hypertrophic or restrictive
(3) conduction defects
(4) refractory cardiac arrhythmias
T2 weighted images of a cardiac MRI is a sensitive and accurate method of demonstrating iron deposition.
An endomyocardial biopsy is rarely indicated but would show siderosis.
The diagnosis is confirmed by demonstration of one or more mutations in the HFE gene.
The cardiomyopathy may be irreversible once severe heart failure has developed. Cardiac transplantation may be necessary in advanced cases.
