RESEARCH - HFE genotyping demonstrates a significant incidence of hemochromatosis in undifferentiated arthritis

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Clin Exp Rheumatol. 2005 Jan-Feb;23(1):7-12.

HFE genotyping demonstrates a significant incidence of hemochromatosis in

undifferentiated arthritis.

Department of Internal Medicine V, Department of Rheumatology,

Wilhelminenspital, Vienna, Austria. edmund.cauza@...

OBJECTIVE: Hereditary hemochromatosis is a common autosomal recessive

disorder of iron metabolism. Among Northern Europeans the carrier frequency

is estimated to be 1 in 10, while up to 1 in 200 is affected by the disease.

Arthropathy is one early clinical manifestation of this disease, but the

articular features are often misdiagnosed. In this study the two frequent

mutations of the HLA-linked hemochromatosis gene (HFE) were investigated in

a rheumatology clinic population. METHODS: Two hundred and six consecutive

patients (mean age 57.7 years; 38 male/168 female) attending a rheumatology

clinic over a period of 14 months were screened for HFE mutations (C282Y and

H63D). All standard diagnostic procedures were used to identify the

aetiology of the arthropathy. Mutations were evaluated by separation on PAGE

of digested PCR amplificates of DNA (by SnapI and Bcl-I, for C282Y and H63D,

respectively) obtained from PBMCs. RESULTS: The C282Y and H63D allele

frequencies were 4.5 and 12.8 in patients with rheumatic diseases. Five

patients were homozygote for H63D (2.4%), and one for C282Y (0.5%). Five

patients were compound heterozygous (2.4%). The observed C282Y allele

frequency in rheumatic patients with undifferentiated arthritis was 12.9 and

exceeded that of healthy subjects (p = 0.01).

CONCLUSIONS: Determination of the HFE genotype is clinically useful in

patients with arthritis of unknown origin, to allow early diagnosis of

hemochromatosis.

PMID: 15789881

http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=pubmed & cmd=Retrieve & dopt=Abstra\

ctPlus & list_uids=15789881

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