The familial chylomicronemia syndrome

Endocrinol Metab Clin North Am. 1998 Sep;27(3):551-67, viii. doi: 10.1016/s0889-8529(05)70025-6.


The chylomicronemia syndrome is a disorder characterized by severe hypertriglyceridemia and fasting chylomicronemia. Genetic causes of the syndrome are rare and include deficiency of lipoprotein lipase (LPL), apolipoprotein C-II, and familial inhibitor of LPL. Patients with familial forms of hypertriglyceridemia in combination with secondary acquired disorders account for most individuals presenting with chylomicronemia. The clinical manifestations--lipid and other biochemical abnormalities--as well as treatment options for chylomicronemic patients are discussed.

Publication types

  • Review

MeSH terms

  • Apolipoprotein C-II
  • Apolipoproteins C / deficiency
  • Apolipoproteins C / genetics
  • Chylomicrons / blood*
  • Chylomicrons / genetics
  • Humans
  • Hypertriglyceridemia / genetics*
  • Hypertriglyceridemia / therapy
  • Lipoprotein Lipase / antagonists & inhibitors
  • Lipoprotein Lipase / deficiency
  • Lipoprotein Lipase / genetics
  • Mutation


  • Apolipoprotein C-II
  • Apolipoproteins C
  • Chylomicrons
  • Lipoprotein Lipase