Lecithin: cholesterol acyltransferase (LCAT) deficiency and risk of vascular disease: 25 year follow-up

Atherosclerosis. 2004 Dec;177(2):361-6. doi: 10.1016/j.atherosclerosis.2004.07.018.


We have reassessed the clinical and biochemical status of a large Canadian kindred with LCAT deficiency 25 years after the initial investigations. There have been no vascular events or death in this family over the 25 years. Both the homozygous (N = 2) and heterozygous (N = 9) patients had highly abnormal lipid profiles with low HDL-C (extreme in the homozygotes); apo B levels were high in the heterozygotes. Lipoprotein and hepatic lipase activities were low in the homozygotes and several heterozygotes. In the two homozygotes the carotid intima media thickness (IMT) was above 75th percentile expected for age and gender. However, the IMT abnormalities were much more pronounced in the heterozygotes, four of whom also had detectable plaques. The homozygotes had only minimal increases in IMT, no plaques, no IMT changes over the last 4 years and normal endothelial function. We conclude that, in this kindred, no significant vascular changes were observed in the homozygotes. However, heterozygocity for LCAT deficiency is associated with both an atherogenic lipid profile and vascular abnormalities.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Apolipoproteins B / blood
  • Female
  • Follow-Up Studies
  • Heterozygote
  • Homozygote
  • Humans
  • Lecithin Cholesterol Acyltransferase Deficiency / complications*
  • Lipoproteins, HDL / blood
  • Male
  • Middle Aged
  • Pedigree
  • Phosphatidylcholines / blood
  • Ultrasonography
  • Vascular Diseases / diagnostic imaging
  • Vascular Diseases / etiology*


  • Apolipoproteins B
  • Lipoproteins, HDL
  • Phosphatidylcholines
  • high density lipoprotein phosphatidylcholine