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Haemochromatosis 

Haemochromatosis
Chapter:
Haemochromatosis
Source:
Oxford Textbook of Rheumatology (4 ed.)
Author(s):

Graeme J. Carroll

, WIlliam H. Breidahl

, and John K. Olynyk

DOI:
10.1093/med/9780199642489.003.0173

The arthropathy of haemochromatosis is relatively common even in patients with hereditary haemochromatosis (HH) recruited from the community. It is a chronic, progressive arthropathy with a level of inflammatory activity that is both clinically and histopathologically intermediate between that of rheumatoid arthritis and osteoarthritis. There is a predilection for the finger metacarpophalangeal joints and it is variably, but not commonly accompanied by chondrocalcinosis. The precise mechanism responsible for tissue damage in affected joints remains unknown, however there is growing evidence that iron load is a major determinant of the arthropathy. HH arthropathy is variably responsive to phlebotomy. Whether earlier diagnosis and treatment targeted to achieve tight control of iron metabolism from an early age or as soon as possible after diagnosis could produce better outcomes remains to be determined. Novel and more effective approaches to management with a view to prevention of structural joint damage still need to be developed.

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