Lecithin: cholesterol acyltransferase (LCAT) deficiency and risk of vascular disease: 25 year follow-up
| Autor: | G.B. John Mancini, Jiri Frohlich, Sammy Chan, John S. Hill, Amir F. Ayyobi, Sandra H. McGladdery |
|---|---|
| Rok vydání: | 2004 |
| Předmět: |
Adult
Male Heterozygote medicine.medical_specialty Adolescent Apolipoprotein B Lecithin Cholesterol Acyltransferase Deficiency Internal medicine medicine Humans Vascular Diseases Aged Apolipoproteins B Ultrasonography Lipoprotein lipase biology medicine.diagnostic_test Vascular disease Homozygote Middle Aged medicine.disease Pedigree Endocrinology Intima-media thickness Phosphatidylcholines cardiovascular system biology.protein Female Hepatic lipase Phosphatidylcholine—sterol O-acyltransferase Lipoproteins HDL Cardiology and Cardiovascular Medicine Lipid profile Follow-Up Studies Lipoprotein |
| Zdroj: | Atherosclerosis. 177:361-366 |
| ISSN: | 0021-9150 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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