Xanthoma of bone associated with lipoprotein lipase deficiency.
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.
Torigoe
Tomoaki
T
Department of Orthopaedic Surgery, Juntendo University School of Medicine, Hongo 2-1-1, Bunkyo-ku, Tokyo, 113-8421, Japan. ttorigoe@med.juntendo.ac.jp
Terakado
Atsuhiko
A
Suehara
Yoshiyuki
Y
Kurosawa
Hisashi
H
D000328:Adult; D001706:Biopsy; D001859:Bone Neoplasms / Q000150:complications / Q000175:diagnosis* / Q000201:enzymology* / Q000628:therapy; D002914:Chylomicrons / Q000097:blood / Q000187:drug effects; D003937:Diagnosis, Differential; D005260:Female; D005266:Femoral Neoplasms / Q000150:complications / Q000175:diagnosis / Q000201:enzymology / Q000628:therapy; D005500:Follow-Up Studies; D006801:Humans; D006811:Humerus / Q000000981:diagnostic imaging / Q000473:pathology; D006943:Hyperglycemia / Q000150:complications / Q000628:therapy; D006949:Hyperlipidemias / Q000175:diagnosis / Q000209:etiology; D008071:Lipoprotein Lipase / Q000097:blood / Q000172:deficiency* / Q000187:drug effects; D008279:Magnetic Resonance Imaging; D009378:Neoplasms, Multiple Primary / Q000150:complications / Q000175:diagnosis* / Q000201:enzymology* / Q000628:therapy; D011859:Radiography; D035583:Rare Diseases; D014973:Xanthomatosis / Q000150:complications / Q000175:diagnosis* / Q000201:enzymology* / Q000628:therapy
D002914:Chylomicrons; D008071:Lipoprotein Lipase