Hyperferritinemia revealing Gaucher's disease.

Eur J Intern Med · 2003

case_report · Level V

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Abstract

Hyperferritinemia is frequently observed during Gaucher's disease but has never been described as an initial manifestation. We report the case of a 57-year-old woman without a previous medical history who presented with hyperferritinemia and IgG monoclonal gammopathy. The diagnostic procedure was negative except for the bone marrow biopsy, which revealed Gaucher's cells. Low beta-glucocerebrosidase activity in leukocytes confirmed the diagnosis of adult Gaucher's disease. We discuss the differential diagnosis and the mechanisms of hyperferritinemia in this disease.