RT Journal Article
SR Electronic
T1 Ankle and hindfoot arthropathy in hereditary hemochromatosis.
JF The Journal of Rheumatology
JO J Rheumatol
FD The Journal of Rheumatology
SP 196
OP 199
VO 30
IS 1
A1 Holger Schmid
A1 Christiane Struppler
A1 Gerald S Braun
A1 Wolfgang Kellner
A1 Herbert Kellner
YR 2003
UL http://www.jrheum.org/content/30/1/196.abstract
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.