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

https://doi.org/10.1016/S0002-9343(99)00120-5Get rights and content

Abstract

PURPOSE: Hemochromatosis is a genetic disorder of iron absorption that affects 5 per 1,000 persons and is associated with reduced health and quality of life. We sought to determine the type and frequency of symptoms that patients experienced before the diagnosis and the treatments that they received.

METHODS: We mailed a questionnaire to 3,562 patients with hemochromatosis who were located using patient advocacy groups, physicians, blood centers, newsletters, and the Internet.

RESULTS: Of the 2,851 respondents, 99% were white and 62% were men. Circumstances that led to diagnosis of hemochromatosis included symptoms (35%), an abnormal laboratory test (45%), and diagnosis of a family member with hemochromatosis (20%). The mean (± SD) age of symptom onset was 41 ± 14 years. 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 physician-diagnosed arthritis and 52% had liver disease. The most common and troublesome symptoms were extreme fatigue (46%), arthralgia (44%), and loss of libido (26%). Physician instructions to patients included treatment with phlebotomy (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 the disease and to improve its management.

Section snippets

Methods

Between September 1996 and September 1997 we mailed a questionnaire to all the people with hemochromatosis we could locate and invited them to participate in our survey. The questionnaire was designed after conducting a literature review and receiving suggestions from persons with hemochromatosis in two focus groups. Questionnaires were also field tested before the general dissemination. After approval by the institutional review boards of all participating institutions, the survey was mailed

Results

A total of 3,562 surveys were mailed, and 2,851 patients (80%) completed the questionnaire, including 2,813 patients residing in 20 countries and 38 patients who did not provide their residence. Among those who gave their country of residence, 84% were from the United States, 6% from Australia, 6% from the United Kingdom, and 4% from Canada. The remaining respondents were from 13 other countries.

When asked their racial background, 2,806 respondents (99%) reported that they were white; 27 were

Discussion

The information from this large sample of patients with hemochromatosis offers an encouraging perspective on how hemochromatosis is managed by physicians and on the implications of diagnosis and treatment for patients. Previous anecdotal information suggested a much worse picture. In this study, hemochromatosis was diagnosed in a large proportion of respondents before symptoms occurred, many persons were not adversely affected by diagnosis or treatment, and phlebotomy seemed to provide some

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  • Cited by (0)

    Supported by the Centers for Disease Control and Prevention Project Number 1632.

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