Genetic Testing in Hyperlipidemia - 17/02/16

Doi : 10.1016/j.ecl.2015.09.009

Ozlem Bilen, MD ^a,^{^{1
Both authors contributed equally.}}, Yashashwi Pokharel, MD, MSCR ^b,^c,^{^{1
Both authors contributed equally.}}, Christie M. Ballantyne, MD ^c,^d,^e,^⁎
^a Department of Medicine, Baylor College of Medicine, 3131 Fannin Street, Houston, TX 77030, USA
^b Section of Cardiovascular Research, Department of Medicine, Baylor College of Medicine, 6565 Fannin Street, Suite B157, Houston, TX 77030, USA
^c Center for Cardiovascular Disease Prevention, Methodist DeBakey Heart and Vascular Center, 6565 Fannin Street, M.S. A-601, Houston, TX 77030, USA
^d Section of Cardiovascular Research, Department of Medicine, Baylor College of Medicine, 6565 Fannin Street, M.S. A-601, Suite 656, Houston, TX 77030, USA
^e Section of Cardiology, Department of Medicine, Baylor College of Medicine, 6565 Fannin Street, M.S. A-601, Suite 656, Houston, TX 77030, USA

^∗Corresponding author. 6565 Fannin Street, M.S. A-601, Suite 656, Houston, TX 77030.

Résumé

Hereditary dyslipidemias are often underdiagnosed and undertreated, yet with significant health implications, most importantly causing preventable premature cardiovascular diseases. The commonly used clinical criteria to diagnose hereditary lipid disorders are specific but are not very sensitive. Genetic testing may be of value in making accurate diagnosis and improving cascade screening of family members, and potentially, in risk assessment and choice of therapy. This review focuses on using genetic testing in the clinical setting for lipid disorders, particularly familial hypercholesterolemia.

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Keywords : Dyslipidemia, Hereditary lipid disorder, Familial hypercholesterolemia, Genetic testing

Plan

Key points

Introduction

Genetic testing in familial hypercholesterolemia

Current Clinical Criteria for Diagnosis of Familial Hypercholesterolemia

Genetic Testing to Improve Diagnostic Accuracy

Genetic Testing in Screening for Familial Hypercholesterolemia

Genetic Testing in the Treatment of Familial Hypercholesterolemia

Other potential uses of genetic testing

Genetic testing in hypertriglyceridemia

Disadvantages of genetic testing

Current tests available

Summary

This article originally appeared in Cardiology Clinics, Volume 33, Issue 2, May 2015.

Disclosures: O. Bilen: Nothing to disclose. Y. Pokharel: Supported by American Heart Association SWA Summer 2014 Postdoctoral Fellowship Award. C.M. Ballantyne: Grant/Research support (All paid to institution, not individual): Abbott Diagnostic, Amarin, Amgen, Eli Lilly, Esperion, GlaxoSmithKline, Merck, Novartis, Pfizer, Regeneron, Roche Diagnostic, Sanofi-Synthelabo, National Institutes of Health, American Heart Association. Consultant: Abbott Diagnostics, Amarin, Amgen, Astra Zeneca, Cerenis, Esperion, Genentech, Genzyme, Kowa, Merck, Novartis, Pfizer, Regeneron, Sanofi-Synthelabo. Advisory panel: Merck, Pfizer.