title: Ankle and hindfoot arthropathy in hereditary hemochromatosis.
abstract: 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.
authors.affiliation: Rheumahaeinheit, Med. Poliklinik, Munich, Germany. holger.schmid@lrz.uni-muenchen.de
authors.forename: Holger
authors.initials: H
authors.lastname: Schmid
authors.forename: Christiane
authors.initials: C
authors.lastname: Struppler
authors.forename: Gerald S
authors.initials: GS
authors.lastname: Braun
authors.forename: Wolfgang
authors.initials: W
authors.lastname: Kellner
authors.forename: Herbert
authors.initials: H
authors.lastname: Kellner
mesh_terms: D000843:Ankle Joint / Q000000981:diagnostic imaging*; D005534:Foot Diseases / Q000000981:diagnostic imaging* / Q000235:genetics; D006432:Hemochromatosis / Q000000981:diagnostic imaging* / Q000235:genetics; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I / Q000235:genetics; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008565:Membrane Proteins / Q000235:genetics; D008875:Middle Aged; D011859:Radiography; D013640:Tarsal Joints / Q000000981:diagnostic imaging*
chemical_list: C103673:HFE protein, human; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins