1. Low-density lipoprotein levels and not mutation status predict intima-media thickness in familial hypercholesterolemia.
- Author
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Fahed AC, Habib RH, Nemer GM, Azar ST, Andary RR, Arabi MT, Moubarak EM, Bitar FF, and Haddad FF
- Subjects
- Adolescent, Adult, Age Factors, Apolipoproteins E genetics, Biomarkers blood, Blood Component Removal, Carotid Artery Diseases blood, Carotid Artery Diseases diagnosis, Carotid Artery Diseases genetics, Case-Control Studies, Child, DNA Mutational Analysis, Genetic Predisposition to Disease, Genetic Testing methods, Heterozygote, Homozygote, Humans, Hyperlipoproteinemia Type II blood, Hyperlipoproteinemia Type II diagnosis, Hyperlipoproteinemia Type II genetics, Hyperlipoproteinemia Type II therapy, Middle Aged, Phenotype, Predictive Value of Tests, Receptors, LDL genetics, Risk Factors, Severity of Illness Index, Young Adult, Carotid Artery Diseases etiology, Carotid Intima-Media Thickness, Hyperlipoproteinemia Type II complications, Lipoproteins, LDL blood, Mutation
- Abstract
Background: Intima-media thickness (IMT) is a well-described marker of cardiovascular disease. In this study we aim to determine whether low-density lipoprotein (LDL) levels and disease-related mutation status can predict IMT in patients with severe familial hypercholesterolemia (FH) referred for or on LDL apheresis., Methods: Genetic screening, lipid profile testing, and IMT measurements were performed on a series of 33 severe FH patients (19 homozygous) on LDL apheresis treatments (LDL 447 ± 151 mg/dL, age range 6-60 years). Data were then compared with literature IMT-LDL data for normal subjects, mild FH patients, and severe FH patients (18, 41, and 6 studies, respectively)., Results: Age-adjusted IMT was linearly related to LDL levels over a wide range of values (<500 mg/dL), except for the severe FH no-apheresis cohort. Alternatively, our severe FH population (mostly on apheresis) did follow the mild FH/control age-adjusted IMT-LDL relation., Conclusions: In severe FH, measuring LDL levels is more predictive of increased IMT than genetic screening., (Copyright © 2014. Published by Elsevier Inc.)
- Published
- 2014
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