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  • Title: Low-density lipoprotein levels and not mutation status predict intima-media thickness in familial hypercholesterolemia.
    Author: Fahed AC, Habib RH, Nemer GM, Azar ST, Andary RR, Arabi MT, Moubarak EM, Bitar FF, Haddad FF.
    Journal: Ann Vasc Surg; 2014 Feb; 28(2):421-6. PubMed ID: 24120234.
    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.
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