Case Report

Ankle and Hindfoot Arthropathy in Hereditary Hemochromatosis

HOLGER SCHMID, CHRISTIANE STRUPPLER, GERALD S. BRAUN, WOLFGANG KELLNER, and HERBERT KELLNER

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. (J Rheumatol 2003;30:196-9)

Key Indexing Terms:

ANKLE JOINT
ARTHROPATHY
HEMOCHROMATOSIS
HFE GENE
HINDFOOT

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From the Rheumaeinheit, Med. Poliklinik, and Institut fur Klinische Radiologie, University of Munich, Munich, Germany.

H. Schmid, MD, MSc; C. Struppler, MD; G.S. Braun, MD; H. Kellner, MD, Assistant Professor, Rheumaeinheit, Med. Poliklinik; W. Kellner, MD, Institut fur Klinische Radiologie.

Address reprint requests to Dr. H. Schmid, Med. Poliklinik-Innenstadt, Ludwig Maximilians University of Munich, Pettenkoferstrasse 8a, 80336 München, Germany. E-mail: holger.schmid@lrz.uni-muenchen.de

Submitted April 23, 2002; revision accepted July 5, 2002.

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