A survey of 2,851 patients with hemochromatosis: Symptoms and response to treatment

PURPOSE: Hemochromatosis is a genetic disorder of iron absorption that affe cts 5 per 1,000 persons and is associated with reduced health and quality o f life. We sought to determine the type and frequency of symptoms that pati ents experienced before the diagnosis and the treatments that they received . METHODS: We mailed a questionnaire to 3,562 patients with hemochromatosis w ho were located using patient advocacy groups, physicians, blood centers, n ewsletters, and the Internet. RESULTS: Of the 2,851 respondents, 99% were white and 62% were men. Circums tances that led to diagnosis of hemochromatosis included symptoms (35%), an abnormal laboratory test (45%), and diagnosis of a family member with hemo chromatosis (20%). The mean (+/- SD) age of symptom onset was 41 +/- 14 yea rs. Symptoms had been present for an average of 10 +/- 10 years before the diagnosis was made. Among the 58% of patients with symptoms, 65% had physic ian-diagnosed arthritis and 52% had liver disease. The most common and trou blesome symptoms were extreme fatigue (46%), arthralgia (44%), and loss of libido (26%). Physician instructions to patients included treatment with ph lebotomy (90%), testing family members (75%), and avoiding iron supplements (65%). CONCLUSIONS: The diagnosis of hemochromatosis in most patients was delayed. Physician education is needed to increase the detection of patients with t he disease and to improve its management. Am J Med. 1999;106:619-624. (C) 1 999 by Excerpta Medica, Inc.