Xanthoma of bone associated with lipoprotein lipase deficiency

Skeletal Radiol. 2008 Dec;37(12):1153-6. doi: 10.1007/s00256-008-0594-5. Epub 2008 Oct 1.

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.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Biopsy
  • Bone Neoplasms / complications
  • Bone Neoplasms / diagnosis*
  • Bone Neoplasms / enzymology*
  • Bone Neoplasms / therapy
  • Chylomicrons / blood
  • Chylomicrons / drug effects
  • Diagnosis, Differential
  • Female
  • Femoral Neoplasms / complications
  • Femoral Neoplasms / diagnosis
  • Femoral Neoplasms / enzymology
  • Femoral Neoplasms / therapy
  • Follow-Up Studies
  • Humans
  • Humerus / diagnostic imaging
  • Humerus / pathology
  • Hyperglycemia / complications
  • Hyperglycemia / therapy
  • Hyperlipidemias / diagnosis
  • Hyperlipidemias / etiology
  • Lipoprotein Lipase / blood
  • Lipoprotein Lipase / deficiency*
  • Lipoprotein Lipase / drug effects
  • Magnetic Resonance Imaging
  • Neoplasms, Multiple Primary / complications
  • Neoplasms, Multiple Primary / diagnosis*
  • Neoplasms, Multiple Primary / enzymology*
  • Neoplasms, Multiple Primary / therapy
  • Radiography
  • Rare Diseases
  • Xanthomatosis / complications
  • Xanthomatosis / diagnosis*
  • Xanthomatosis / enzymology*
  • Xanthomatosis / therapy

Substances

  • Chylomicrons
  • Lipoprotein Lipase