Volume 46, Issue 7 p. 1922-1925
Original Article
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Avascular necrosis of the femoral head in a patient with Fabry's disease: Identification of ceramide trihexoside in the bone by delayed-extraction matrix-assisted laser desorption ionization–time-of-flight mass spectrometry

Hiroshi Horiuchi

Hiroshi Horiuchi

Shinshu University, Matsumoto, Japan

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Naoto Saito

Corresponding Author

Naoto Saito

Shinshu University, Matsumoto, Japan

Department of Orthopaedic Surgery, School of Medicine, Shinshu University, 3-1-1 Asahi Matsumoto, JapanSearch for more papers by this author
Seneki Kobayashi

Seneki Kobayashi

Shinshu University, Matsumoto, Japan

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Hiroyoshi Ota

Hiroyoshi Ota

Shinshu University, Matsumoto, Japan

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Tamotsu Taketomi

Tamotsu Taketomi

Shinshu University, Matsumoto, Japan

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Kunio Takaoka

Kunio Takaoka

Shinshu University, Matsumoto, Japan

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First published: 11 July 2002
Citations: 18

Abstract

Fabry's disease is a lipid storage disease caused by an X-linked hereditary deficiency of α-galactosidase. The enzymatic defect causes progressive deposition of ceramide trihexoside (CTH) in various tissues, leading to renal failure, premature myocardial infarction, and stroke, with a high rate of mortality in younger patients. Among the complications associated with Fabry's disease, a few cases involving avascular necrosis (AVN) of the femoral head have been reported. However, direct evidence of deposition of CTH in bone marrow in the femoral head has not been demonstrated. This report describes a 58-year-old man who underwent total hip arthroplasty for femoral head AVN associated with Fabry's disease. The accumulation of CTH was examined by chemical analysis of the sphingolipid extracted from the femoral head, using delayed-extraction matrix-assisted laser desorption ionization–time-of-flight mass spectrometry. This is the first report confirming the presence of CTH in the sphingolipid fraction from normal and necrotic bone of a patient with Fabry's disease.