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Hereditary hemochromatosis is characterized by a clinically definable arthropathy that correlates with iron load
Journal article   Open access   Peer reviewed

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

G.J. Carroll, W.H. Breidahl, M.K. Bulsara and J.K. Olynyk
Arthritis & Rheumatism, Vol.63(1), pp.286-294
2010
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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.

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Collaboration types
Domestic collaboration
Citation topics
1 Clinical & Life Sciences
1.184 Physiology & Metals
1.184.573 Iron Metabolism
Web Of Science research areas
Rheumatology
ESI research areas
Clinical Medicine
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