Torigoe Tomoaki, Terakado Atsuhiko, Suehara Yoshiyuki, Kurosawa Hisashi
Department of Orthopaedic Surgery, Juntendo University School of Medicine, Hongo 2-1-1, Bunkyo-ku, Tokyo, 113-8421, Japan.
Skeletal Radiol. 2008 Dec;37(12):1153-6. doi: 10.1007/s00256-008-0594-5. Epub 2008 Oct 1.
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.
脂蛋白脂肪酶（LPL）缺乏症是一种极其罕见的先天性代谢紊乱疾病，血液中会出现乳糜微粒蓄积。我们遇到了一位患有LPL缺乏症的患者，该疾病导致了与高脂血症相关的多发性骨黄瘤。肱骨和股骨的X线片及磁共振成像（MRI）显示出对称性骨病变，因此这些对称性病变有可能是该疾病的一个特征性表现。
