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Published on: May 31, 2016
Xanthoma of bone associated with lipoprotein lipase deficiency
Tomoaki Torigoe1, Atsuhiko Terakado, Yoshiyuki Suehara
1Department of Orthopaedic Surgery, Juntendo University School of Medicine, Hongo 2-1-1, Bunkyo-ku, Tokyo, 113-8421, Japan. ttorigoe@med.juntendo.ac.jp
Abstract:
Lipoprotein lipase (LPL) deficiency is an extremely rare congenital metabolic disorder with an accumulation of chylomicrons in the blood. We encountered a patient with an LPL deficiency leading to multiple bone xanthomas associated with hyperlipidemia. Radiographs and MRI of the humerus and femur revealed symmetrical bone lesions, and there is a possibility that these symmetrical lesions may therefore be a characteristic feature for this disorder.
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