A survey of 2,851 patients with hemochromatosis: symptoms and response to treatment.
OBJECTIVE
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.
McDonnell
S M
SM
Centers for Disease Control and Prevention, National Center for Chronic Disease Prevention and Health Promotion, Division of Nutrition and Physical Activity, Atlanta, Georgia 30341, USA.
Preston
B L
BL
Jewell
S A
SA
Barton
J C
JC
Edwards
C Q
CQ
Adams
P C
PC
Yip
R
R
D000293:Adolescent; D000328:Adult; D017677:Age Distribution; D000368:Aged; D000369:Aged, 80 and over; D003937:Diagnosis, Differential; D005260:Female; D006432:Hemochromatosis / Q000175:diagnosis* / Q000453:epidemiology* / Q000628:therapy; D006801:Humans; D008016:Life Change Events; D008297:Male; D008875:Middle Aged; D018962:Phlebotomy; D015995:Prevalence; D012720:Severity of Illness Index; D017678:Sex Distribution; D014481:United States / Q000453:epidemiology