Low-Density Lipoprotein Levels and Not Mutation Status Predict Intima-Media Thickness in Familial Hypercholesterolemia

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• 作者：Akl C. Fahed ; Robert H. Habib ; Georges M. Nemer ; Sami T. Azar ; Rabih R. Andary ; Mariam T. Arabi ; Elie M. Moubarak ; Fadi F. Bitar ; Fady F. Haddad
• 刊名：Annals of Vascular Surgery
• 出版年：February, 2014
• 年：2014
• 卷：28
• 期：2
• 页码：421-426
• 全文大小：481 K

文摘

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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聽a聽series of 33 severe FH patients (19 homozygous) on LDL apheresis treatments (LDL聽447 卤 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聽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.