Will the Real Hemochromatosis Please Stand Up?
- Adele L. Franks, MD; and
- Wylie Burke, MD, PhD
- The Prudential Center for Health Care Research; Atlanta, GA 30339 (Franks) University of Washington; Seattle, WA 98105 (Burke)
When hereditary hemochromatosis was considered a very rare disease and diagnosis relied on severe signs, such as the triad of cirrhosis, diabetes mellitus, and skin bronzing, along with evidence of iron overload on tissue biopsy, there was little controversy about its diagnosis. Now, however, the recognition that these severe disease manifestations are preventable with early treatment has led to strong interest in early diagnosis of the disease. Because numerous other conditions can cause the signs and symptoms seen early in the course of hemochromatosis (such as arthralgia, fatigue, and cardiac arrhythmia), the effort to develop more sensitive and specific methods of early detection has been fraught with difficulties and has generated considerable controversy about what diagnostic algorithm should be followed and who should be tested (1). In general, the diagnosis is based on persistently elevated serum transferrin saturation plus evidence of iron overload documented by liver biopsy (with an elevated hepatic iron index) or quantitative phlebotomy. Diagnosis before this degree of iron accumulation is less clear.
The recent identification of two HFE …
This 100-word excerpt has been provided in the absence of an abstract.
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