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Hereditary hemochromatosis is characterized by a clinically definable arthropathy that correlates with iron load

Carroll, G.J., Breidahl, W.H., Bulsara, M.K. and Olynyk, J.K. (2010) Hereditary hemochromatosis is characterized by a clinically definable arthropathy that correlates with iron load. Arthritis & Rheumatism, 63 (1). pp. 286-294.

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Link to Published Version: http://dx.doi.org/10.1002/art.30094
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Abstract

OBJECTIVE:
To determine the frequency and character of arthropathy in hereditary hemochromatosis (HH) and to investigate the relationship between this arthropathy, nodal interphalangeal osteoarthritis, and iron load.

METHODS:
Participants were recruited from the community by newspaper advertisement and assigned to diagnostic confidence categories for HH (definite/probable or possible/unlikely). Arthropathy was determined by use of a predetermined clinical protocol, radiographs of the hands of all participants, and radiographs of other joints in which clinical criteria were met.

RESULTS:
An arthropathy considered typical for HH, involving metacarpophalangeal joints 2-5 and bilateral specified large joints, was observed in 10 of 41 patients with definite or probable HH (24%), all of whom were homozygous for the C282Y mutation in the HFE gene, while only 2 of 62 patients with possible/unlikely HH had such an arthropathy (P=0.0024). Arthropathy in definite/probable HH was more common with increasing age and was associated with ferritin concentrations>1,000 μg/liter at the time of diagnosis (odds ratio 14.0 [95% confidence interval 1.30-150.89], P=0.03). A trend toward more episodes requiring phlebotomy was also observed among those with arthropathy, but this was not statistically significant (odds ratio 1.03 [95% confidence interval 0.99-1.06], P=0.097). There was no significant association between arthropathy in definite/probable HH and a history of intensive physical labor (P=0.12).

CONCLUSION:
An arthropathy consistent with that commonly attributed to HH was found to occur in 24% of patients with definite/probable HH. The association observed between this arthropathy, homozygosity for C282Y, and serum ferritin concentrations at the time of diagnosis suggests that iron load is likely to be a major determinant of arthropathy in HH and to be more important than occupational factors.

Publication Type: Journal Article
Publisher: Wiley-Blackwell
Copyright: © 2011 by the American College of Rheumatology
URI: http://researchrepository.murdoch.edu.au/id/eprint/17091
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