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Hemochromatosis case definition: out of focus?

Nature Clinical Practice Gastroenterology & Hepatology volume 3, pages 178–179 (2006)Cite this article

Although hemochromatosis was first described in the 19th century, John Sheldon's 1934 description of 300 cases remains a landmark publication in defining the clinical characteristics of the disease. Since that time there have been many advances, including the discovery of the hemochromatosis (HFE) gene in 1996, mutations of which (e.g. 845G·A [C282Y]) are found in the majority of patients with typical hemochromatosis. Expert opinion is, however, varied regarding what constitutes the ideal case definition for hemochromatosis. This has led to confusion amongst clinicians and patients.

Why do we need a case definition for any medical condition? Has the subclassification of any group of clinically similar diseases improved life for the patient with a single subclass of those diseases? A precise case definition is useful to study the natural history of a disease, direct appropriate treatment, and judge response to therapy. Furthermore, a consistent case definition is particularly important when studies are compared and outcomes are combined, such as in a meta-analysis.

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  1. Professor of Medicine at University Hospital in London, ON, Canada

    Paul C Adams

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  1. Paul C Adams
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Correspondence to Paul C Adams.

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Adams, P. Hemochromatosis case definition: out of focus?. Nat Rev Gastroenterol Hepatol 3, 178–179 (2006). https://doi.org/10.1038/ncpgasthep0465

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  • DOI: https://doi.org/10.1038/ncpgasthep0465

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