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Advancing the Recognition and Management of Homozygous Familial Hypercholesterolemia

Advancing the Recognition and Management of Homozygous Familial Hypercholesterolemia

E-Publication
Developed in Collaboration
Med-IQ    JDRF   JDRF
Released: 9/27/2021
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Expires: 9/26/2022
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Max Credits: 0.75
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Faculty
Eugenia Gianos, MD
Professor of Cardiology
Zucker School of Medicine
System Director, Cardiovascular Prevention
Northwell Health
Director, Western Region
Katz Institute Women's Heart Program
Director, Women’s Heart Program
Lenox Hill Hospital
New York, NY

Lisa C. Hudgins, MD
Associate Professor of Pediatrics in Medicine
Weill Cornell Medical College
Pediatric Director
Rogosin Institute Comprehensive Lipid Control Center
New York, NY

Content Expert
Mary P. McGowan, MD, FNLA
Chief Medical Officer, The FH Foundation
Assistant Professor of Medicine
Geisel School of Medicine at Dartmouth
Co-Director, Heart & Vascular Center Lipid Clinic
Dartmouth Hitchcock Medical Center
Lebanon, NH

Activity Planners
John C. Elkins, DNP, MEd, NP-C, CLS, FNLA
Interprofessional Continuing Education Committee Reviewer
National Lipid Association
Jacksonville, FL

Susan Kuhn, MHSc
Manager, Educational Strategy and Content
Med-IQ
Baltimore, MD

Rebecca L. Julian, MS, ELS
Senior Manager, Editorial
Med-IQ
Baltimore, MD

Samantha Gordon, MS
Accreditation Manager
Med-IQ
Baltimore, MD

Writer
Katherine Kahn
Holyoke, MA

Learning Objectives
Upon completion, participants should be able to:

  • Identify the clinical and genetic attributes, available diagnostic tools, and screening practices to aid in the identification of individuals with HoFH
  • Differentiate among current and emerging HoFH therapeutic options in terms of benefits, limitations, mechanisms of action, clinical evidence, and effect on LDL-C lowering

Target Audience
This activity is intended for cardiology, primary care, endocrinology, and pediatric clinicians and other healthcare professionals who manage patients with or at risk of HoFH.
 
Statement of Need
Familial hypercholesterolemia (FH) is significantly underdiagnosed and undertreated; indeed, only an estimated 10% of FH cases in the United States have been diagnosed. Because homozygous FH (HoFH) affects up to 1 in 300,000 individuals, identifying those with or at risk of HoFH is even more challenging. Recent survey data reveal that many clinicians do not recognize heterozygous FH (HeFH) or HoFH, are unfamiliar with available diagnostic tools, and are not implementing optimal screening mechanisms to identify patients and relatives with these conditions. In addition, HeFH and HoFH are often undertreated in both cardiology and primary care settings. Current treatment options for HoFH are similar to those for HeFH, but more intensive management and multiple lipid-lowering treatments are often needed in HoFH. In addition, although available recommended treatments for HoFH are effective at lowering LDL-C, they may not be sufficient to achieve LDL-C goals and may be limited by side effects, access issues, and inconvenience, demonstrating a need for additional effective therapies. Data are emerging surrounding novel therapeutics that appear promising in HoFH, potentially changing the therapeutic landscape for this rare disorder.

Collaboration Statement
This activity was developed by Med-IQ in collaboration with the National Lipid Association and the FH Foundation.

Accreditation/Designation Statements
National Lipid Association is accredited by the Accreditation Council for Continuing Medical Education (ACCME) to provide continuing medical education for physicians.

National Lipid Association designates this enduring material for a maximum of 0.75 AMA PRA Category 1 Credit™. Physicians should claim only the credit commensurate with the extent of their participation in the activity.
 
National Lipid Association is accredited as a provider of nursing continuing professional development by the American Nurses Credentialing Center’s Commission on Accreditation.

This nursing activity has been approved for up to 0.75 contact hour.

Medium/Method of Participation
This is a 0.75-credit CE activity. To receive credit, read the introductory CE material, complete all of the modules, and complete the evaluation, attestation, and post-test, answering at least 70% of the post-test questions correctly.

Initial Release Date: September 27, 2021
Expiration Date: September 26, 2022
Estimated Time to Complete This Activity: 45 minutes

Disclosure Policy
The National Lipid Association and Med-IQ require any person in a position to control the content of an educational activity to disclose all relevant financial relationships with any commercial interest. The ACCME defines “relevant financial relationships” as those in any amount occurring within the past 24 months that could create a conflict of interest (COI). Individuals who refuse to disclose will not be permitted to contribute to this CME activity in any way. National Lipid Association and Med-IQ have policies in place that will identify and resolve COIs prior to this educational activity. National Lipid Association and Med-IQ also require faculty to disclose discussions of investigational products or unlabeled/unapproved uses of drugs or devices regulated by the US Food and Drug Administration.

Drug/Product Usage by Faculty
Off-label/unapproved drug uses or products are mentioned within this activity. 

Disclosure Statement
The content of this activity has been peer reviewed and has been approved for compliance. The faculty and contributors have indicated the following financial relationships, which have been resolved through an established COI resolution process, and have stated that these reported relationships will not have any impact on their ability to give an unbiased presentation.

Eugenia Gianos, MD
Contracted research: AstraZeneca

Lisa C. Hudgins, MD, has indicated no real or apparent conflicts.

John C. Elkins, DNP, MEd, NP-C, CLS, FNLA, has indicated no real or apparent conflicts.

Mary P. McGowan, MD, FNLA
Consulting fees/advisory boards: Novartis Pharmaceuticals Corporation, Regeneron Pharmaceuticals, Inc.
Fees received for promotional/non-CE activities: Kaneka Medical America LLC
Contracted research: Amgen, Novartis Pharmaceuticals Corporation

The writer, peer reviewers, and other activity planners have no financial relationships to disclose.
 
Statement of Evidence-Based Content
Educational activities that assist physicians in carrying out their professional responsibilities more effectively and efficiently are consistent with the ACCME definition of continuing medical education (CME). As an ACCME-accredited provider of CME, the National Lipid Association and Med-IQ has a policy to review and ensure that all the content and any recommendations, treatments, and manners of practicing medicine in CME activities are scientifically based, valid, and relevant to the practice of medicine. National Lipid Association and Med-IQ are responsible for validating the content of the CME activities it provides. Specifically, (1) all recommendations addressing the medical care of patients must be based on evidence that is scientifically sound and recognized as such within the profession; (2) all scientific research referred to, reported, or used in CME in support or justification of a patient care recommendation must conform to generally accepted standards of experimental design, data collection, and analysis.

National Lipid Association and Med-IQ are not liable for any decision made or action taken in reliance upon the information provided through this activity.
 
Contact Information
For CME/CE questions or comments about this activity, please contact the National Lipid Association. Call 904 998 0854 or email cme@lipid.org.

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The information provided through this activity is for continuing education purposes only and is not meant to substitute for the independent medical judgment of a physician relative to diagnostic and treatment options of a specific patient’s medical condition.

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Complimentary CE
This activity is available free of charge to participants.

Acknowledgment of Commercial Support
This activity is supported by an independent educational grant from Regeneron Pharmaceuticals, Inc.
 
Copyrighted

Abstract

Welcome to this activity on advancing the recognition and management of homozygous familial hypercholesterolemia (HoFH). Here are the key takeaways from this activity. Deeper insights and evidence, a whiteboard-style video, and learning modules, plus an opportunity to receive credit, are available at the "Continue" button below.

  • FH is an autosomal dominant disorder involving mutations in the genes for proteins involved in the hepatic clearance of LDL-C; it is characterized by markedly high LDL-C, leading to premature ASCVD
  • FH is not a rare disease as it affects about 1 in 250 individuals; however, HoFH is extremely rare, affecting approximately 1 in 300,000 individuals
  • The diagnosis of HoFH depends on a combination of factors including LDL-C levels (very high LDL-C levels of > 400-500 mg/dL if untreated, or > 300 mg/dL if on maximum lipid-lowering treatment), the presence of cholesterol deposits (which are often but not always present), clinical history of premature CVD, family history, and exclusion of secondary hyperlipidemia
  • HoFH is due to 2 abnormal alleles that can result in minimal LDLR activity (receptor null) or moderate activity (receptor defective); HoFH patients with receptor null mutations have the highest LDL-C levels and greatest risk of CVD
  • Nonpharmacologic management includes lipoprotein apheresis and liver transplantation, which may be considered in patients who have CVD progression despite lipid-lowering therapy and lipoprotein apheresis
  • HoFH patients with LDLR null mutations and minimal LDLR activity usually have minimal LDL-C lowering with traditional lipid-lowering therapies (eg, statins, ezetimibe, PCSK9 inhibitors, bempedoic acid, bile acid sequestrants, niacin)
  • HoFH medications that do not rely on LDLR activity include lomitapide, an MTP inhibitor approved for adults, and evinacumab, an ANGPTL3 inhibitor approved in children aged 12 years and older; evidence shows that these agents can lower LDL-C by approximately 40% to 50%

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The information provided through this activity is for continuing education purposes only and is not meant to substitute for the independent medical judgment of a physician relative to diagnostic and treatment options of a specific patient’s medical condition.

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