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Ankle and hindfoot arthropathy in hereditary hemochromatosis

Holger Schmid1, Christiane Struppler, Gerald S Braun

  • 1Rheumahaeinheit, Med. Poliklinik, Munich, Germany. holger.schmid@lrz.uni-muenchen.de

The Journal of Rheumatology
|January 1, 2003
PubMed

Insights

Hereditary hemochromatosis (HH) rarely affects ankle and hindfoot joints, presenting as severe osteoarthritis in young men. Early diagnosis is crucial for managing this rare but significant manifestation of HH.

Area of Science:

  • Orthopedics
  • Genetics
  • Hepatology

Background:

  • Hereditary hemochromatosis (HH) is a genetic disorder characterized by excessive iron absorption.
  • Arthropathy is a common clinical manifestation of HH, but typically affects other joints.
  • Ankle and hindfoot involvement in HH-related arthropathy is considered rare.

Observation:

  • This study describes three male patients presenting with symmetrical ankle pain and swelling.
  • Imaging revealed severe osteoarthritic changes, including joint space narrowing, subchondral sclerosis, and cyst formation.
  • All patients were diagnosed with HH due to a homozygous C282Y mutation in the HFE gene.

Findings:

  • The patients exhibited severe, symmetrical arthropathy of the ankle and hindfoot joints.
  • Radiological findings were consistent with advanced osteoarthritis.
  • Genetic testing confirmed hereditary hemochromatosis (HH) with the C282Y mutation in all cases.

Implications:

  • Severe ankle and hindfoot arthropathy can be a primary presenting symptom of hereditary hemochromatosis in younger males.
  • This highlights the importance of considering HH in the differential diagnosis of unexplained severe ankle osteoarthritis.
  • Timely diagnosis and management of HH can potentially prevent or mitigate joint damage and other systemic complications.

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