Hemochromatosis

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

  1. G. J. Carroll1,*,
  2. W. H. Breidahl2,
  3. M. K. Bulsara3,
  4. J. K. Olynyk4

Article first published online: 28 DEC 2010

DOI: 10.1002/art.30094

Issue

Arthritis & Rheumatism

Arthritis & Rheumatism

Volume 63, Issue 1, pages 286–294, January 2011

Additional Information

How to Cite

Carroll, G. J., Breidahl, W. H., Bulsara, M. K. and Olynyk, J. K. (2011), Hereditary hemochromatosis is characterized by a clinically definable arthropathy that correlates with iron load. Arthritis & Rheumatism, 63: 286–294. doi: 10.1002/art.30094

Author Information

  1. 1

    University of Notre Dame Australia, Fremantle Campus, and Fremantle Hospital, Fremantle and University of Western Australia, Perth, Western Australia, Australia

  2. 2

    Royal Perth Hospital, Perth, Western Australia, Australia

  3. 3

    University of Notre Dame Australia, Fremantle Campus, Fremantle, Western Australia, Australia

  4. 4

    Fremantle Hospital, Fremantle and University of Western Australia, Curtin Health Innovation Research Institute, Curtin University, and Western Australian Institute of Medical Research, Perth, Western Australia, Australia

*PO Box 6, Mount Lawley, Western Australia 6929, Australia

Publication History

  1. Issue published online: 28 DEC 2010
  2. Article first published online: 28 DEC 2010
  3. Accepted manuscript online: 15 OCT 2010 01:45PM EST
  4. Manuscript Accepted: 7 OCT 2010
  5. Manuscript Received: 17 MAR 2010

Funded by

  • Arthritis Western Australia (Arthritis WA)
  • Fremantle Hospital Rheumatology Trust
  • National Health and Medical Research Council Practitioner Fellowship

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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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