Activity Overview

Elevated low-density lipoprotein (LDL) cholesterol is an increasingly common finding in all modern economies, resulting in atherosclerosis, ischemic vascular disease, and cardiovascular disease, the leading cause of death worldwide. Most elevated LDL cholesterol is the result of poor lifestyle choices; less well-known is the subset of patients whose elevated LDL is the result of genetic inheritance. The less severe form of this condition, heterozygous familial hypercholesterolemia (FH), occurs in approximately 1 per 500 persons worldwide; the severe form (inheritance from both parents, homozygous FH) occurs in about 1 person per 1 million. This open-access, journal indexed Web-based CME/CE activity in the Journal of Clinical Lipidology, the official journal of the National Lipid Association, is based on a special session presented at the NLA2012 scientific sessions, held in Scottsdale, Arizona, in May 2012. For all clinicians who diagnose and treat patients with elevated LDL, this activity is designed to update and discuss current knowledge, practice gaps, and challenges in the identification and management of patients with severe FH.

Target Audience

This Journal CME Activity is designed for a broad audience of healthcare professionals including lipidologists, cardiologists, endocrinologists, internists, primary care physicians, pharmacists, nurse practitioners, physician assistants, registered nurses, and registered dietitians.

Educational Objectives

On completion of this activity, participants should be able to:
  • Describe the pathophysiology of severe familial hypercholesterolemia including the role of apolipoprotein B and lipoprotein(a) in lipid homeostasis.
  • Implement diagnostic strategies in pediatric and adult patients to appropriately risk stratify patients for genetic lipid disorders.
  • Utilize current treatment recommendations to improve outcomes in patients with severe FH to reduce their elevated risk of coronary heart disease.
  • Track patient outcomes data to expand clinical research and decision-making that will improve identification of patients at risk for FH.
At the conclusion of this activity, participants should be able to provide appropriate care and counsel for patients and their families.


Mary P. McGowan, MD, FNLA
Assistant Professor of Medicine
University of Massachusetts Medical Center
Bedford, NH
Daniel J. Rader, MD, FNLA
Professor of Medicine
Division Chief of Translational Medicine and Human Genetics
University of Pennsylvania
Philadelphia, PA
James A. Underberg, MD, MS, FNLA
Clinical Assistant Professor of Medicine, NYU Medical School
NYU Center for Cardiovascular Disease Prevention
Director, Bellevue Hospital Lipid Clinic
New York, NY

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