Ankle and hindfoot arthropathy in hereditary hemochromatosis
Schmid, H.; Struppler, C.; Braun, G.S.; Kellner, W.; Kellner, H.
Journal of Rheumatology 30(1): 196-199
2003
ISSN/ISBN: 0315-162X PMID: 12508413 Document Number: 560768
Arthropathy is a leading clinical manifestation of hereditary hemochromatosis (HH), but involvement of the ankle and hindfoot joints is rare. We describe 3 male patients who presented with symmetrical pain and swelling of the ankles. Radiographs and magnetic resonance imaging showed severe osteoarthritic degenerative changes with a radiological triad of joint space narrowing, subchondral sclerosis, and cyst formation. In all 3 cases a homozygous C282Y mutation in the HFE gene was detected and liver biopsies confirmed the diagnosis of HH. Other differential diagnoses could be excluded. Severe arthropathy of the ankle and hindfoot in comparatively young men can be a leading presentation of HH.