Mayo Clinic Proceedings

Beutler, Ernest
March 2004
Mayo Clinic Proceedings;Mar2004, Vol. 79 Issue 3, p305
Academic Journal
Histoplasmosis was once regarded as a uniformly fatal infection; most patients with factor V Leiden were believed to be at high risk for venous thrombosis, and patients with Gaucher disease were expected to show relentless progression. The situation is no different with hereditary hemochromatosis. Because hereditary iron storage disease can present with cirrhosis, diabetes, and cardiomyopathy, many physicians have assumed that this end stage would ultimately occur in most patients with the homozygous hemochromatosis genotype if they were not so fortunate as to have a diagnosis made by an alert physician and early treatment with phlebotomy.


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