Haemochromatosis and Arthropathy: Research Published

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A recent article published in the Scandinavian Journal or Rheumatology has confirmed that unexplained joint problems should prompt doctors to take up diagnostic tests for genetic haemochromatosis and iron overload.

The article was published by Dr Richardson and Dr Kiely of St George’s University Hospital in London, and Dr Prideaux of the University of Cardiff, and is entitled “Haemochromatosis: unexplained metacarpophalangeal or ankle arthropathy should prompt diagnostic tests: findings from two UK observational cohort studies.”

(Click here to download the full scientific article)

“Though it comes as no great surprise to see joint pain and GH linked in this way”, said David Head, Chief Executive at The Haemochromatosis Society, “it is really important that this whole issue is backed up by a piece of good research by respected scientist and clinicians. We certainly hope that rheumatologists up and down the country take note and that the possibility of GH being the cause of their patients’ problems is checked out properly. The implication from some of the figures published is that half of patients could be potentially diagnosed 5 or more years earlier if this is picked up.”

The objective of the research was to assess what factors might lead to earlier diagnosis of GH. Data was captured from two groups of patients, one in depth at a special clinical centre in London, and one through the dissemination of a questionnaire to members of The Haemochromatosis Society, which resulted in 470 datasets. In both groups of GH patients, over 75% reported joint symptoms with a mean duration of over 8 years.

The article highlights the fact that although diagnosis with a serum ferritin level (a proxy measure for body storage iron) of under 1,000 microgrammes per litre is taken to be a marker for a good prognosis, in reality “delays in securing a diagnosis are the norm and peak ferritin levels are often much higher“.  Analysis of the datasets from the two patient cohorts is in depth (and available from the download link above) and results in the conclusion that “Analysis of arthropathy (in these groups) reveals the MCP and ankle often to be the first affected joints, and a higher prevalence of disease at these sites than expected in patients presenting with OA (osteoarthritis) in the general population. We propose that the finding of unexplained OA of the MCP or ankle joints should prompt diagnostic tests for haemochromatosis, particularly if presenting in the sixth decade or earlier, and in the absence of trauma.

Note for Editors

Published in SJR (accepted February 2016). Patrick Kiely, Department of Rheumatology, St George’s University Hospitals NHS Foundation Trust, Blackshaw Road, London SW17 0QT, UK. E-mail: Patrick.kiely@stgeorges.nhs.uk.

For further links, comment and pictures contact David Head, chiefexec@haemochromatosis.org.uk