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Carroll, G.J., Breidahl, W.H. and Olynyk, J.K. (2013) Haemochromatosis. In: Watts, R.A., Conaghan, P.G., Denton, C., Foster, H., Isaacs, J. and Muller-Ladner, U., (eds.) Oxford Textbook of Rheumatology. Oxford University Press, Oxford, England, pp. 1471-1476.


Hereditary Haemochromatosis (HH) is a common inherited metabolic disorder characterized by systemic iron overload1-2. HH affects approximately 1 in 200 people and is most common in persons of northern European origin. Organ damage in the pancreas, liver, heart, endocrine glands, skin and joints has been described in HH. There is evidence that the frequency and extent of organ damage may be changing with time, perhaps due to earlier diagnosis and treatment3. In persons of Northern European origin, homozygosity for the C282Y mutation in the HFE gene found on chromosome 6 is present in over 90% of patients with HH4, whereas in Southern Europe as many as 30% of cases may be heterozygous or wild type for this mutation5. Individuals homozygous for the C282Y mutation in the HFE gene product have up to a 30 percent chance of developing significant disease as a result of iron overload1.

The clinical manifestations of the disorder were reviewed by Sheldon in 1935, but in his description, an arthropathy is not recorded6. It was not until Schumacher described 2 cases and reported a peripheral arthritis in 5 of 23 hospital cases of idiopathic Haemochromatosis in 1964 that arthropathy was identified in Haemochromatosis7. Subsequent studies have confirmed the presence of a clinically recognisable arthropathy8-17. Although clinically and radiologically characteristic, the arthropathy is not specific for haemochromatosis, since it cannot be differentiated from monoarticular osteoarthritis in the same target joints or from the form of polyarticular osteoarthritis classified as Type 2 polyarticular osteoarthritis (T2POA)18,19. Moreover, differentiation from pyrophosphate deposition disease, diabetes with metacarpophalangeal (MCP) joint involvement and even rheumatoid arthritis (RA) can sometimes be difficult820 .

Publication Type: Book Chapter
Publisher: Oxford University Press
Copyright: 2013 Oxford University Press
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