Clinical Review Lesson of the week

Haemochromatosis and exercise related joint pains

BMJ 1999; 318 doi: http://dx.doi.org/10.1136/bmj.318.7181.449 (Published 13 February 1999) Cite this as: BMJ 1999;318:449
  1. Ian McCurdie, senior registrar,
  2. J David Perry, consultant
  1. Department of Rheumatology, The Royal Hospitals NHS Trust, Mile End Hospital, London E1 4DG
  1. Correspondence to: Dr Perry
  • Accepted 5 February 1998

Idiopathic haemochromatosis is an inherited disorder of iron metabolism in which excess iron absorption leads to tissue damage associated with a characteristic arthropathy. It is an uncommon but important cause of joint pains in middle age, and early diagnosis and treatment can reduce the long term illnesses and premature death associated with other complications of the disease.1 We describe two cases of haemochromatosis in patients who presented with exercise related joint pains that were initially attributed to their running but were subsequently found to be the presenting symptoms of haemochromatosis. Earlier diagnosis might have prevented their subsequent irreversible joint damage.

Case reports

Case 1

A 51 year old woman who was a recreational runner presented with a five year history of pain in the middle of both feet. An acute ankle sprain 10 years before had not responded to conservative treatment, and she had not been given a clear diagnosis for her ongoing functional instability and persistent exercise related pain. At presentation to the sports clinic she gave a more recent history of back pain, pain in both sides of her hip, and pain in both metacarpals; she had had increasing difficulty with her grip over the previous two years because of aching and stiffness of her second and third metacarpals. Her brother also had similar symptoms which had not been investigated; he was later confirmed as having haemochromatosis. The patient had no other symptoms or signs of chronic liver disease or endocrine disturbance. She did, however, have soft tissue swelling over the affected metacarpals, some reduction in internal rotation of both hips, and painful, stiff subtalar joints.

The pattern of affected joints and the family history prompted further investigation. She had a serum ferritin concentration of 1087 =B5g/l, with normal results in liver function tests and a normal glucose concentration, full blood …

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