PT  - JOURNAL ARTICLE
AU  - Holger Schmid
AU  - Christiane Struppler
AU  - Gerald S Braun
AU  - Wolfgang Kellner
AU  - Herbert Kellner
TI  - Ankle and hindfoot arthropathy in hereditary hemochromatosis.
DP  - 2003 Jan 01
TA  - The Journal of Rheumatology
PG  - 196--199
VI  - 30
IP  - 1
4099  - http://www.jrheum.org/content/30/1/196.short
4100  - http://www.jrheum.org/content/30/1/196.full
SO  - J Rheumatol2003 Jan 01; 30
AB  - 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.