Cascade Screening and Treatment Initiation in Young Adults with Heterozygous Familial Hypercholesterolemia

Amy L Peterson, University of Wisconsin School of Medicine and Public Health
Matthew Bang, University of California Irvine
Robert C Block, University of Rochester Medical Center
Nathan D Wong, University of California Irvine
Dean Karalis, Thomas Jefferson University

Document Type Article

This article is the author’s final published version in Journal of Clinical Medicine, Volume 10, Issue 14, July 2021, Article number 3090.

The published version is available at https://doi.org/10.3390/jcm10143090. Copyright © Peterson et al.

Abstract

Heterozygous familial hypercholesterolemia (HeFH) creates elevated low-density lipoprotein cholesterol (LDL-C), causing premature atherosclerotic cardiovascular disease (ASCVD). Guidelines recommend cascade screening relatives and starting statin therapy at 8-10 years old, but adherence to these recommendations is low. Our purpose was to measure self-reported physician practices for cascade screening and treatment initiation for HeFH using a survey of 500 primary care physicians and 500 cardiologists: 54% "always" cascade screen relatives of an individual with FH, but 68% would screen individuals with "strong family history of high cholesterol or premature ASCVD", and 74% would screen a child of a patient with HeFH. The most likely age respondents would start statins was 18-29 years, with few willing to prescribe to a pediatric male (17%) or female (14%). Physicians who reported previously diagnosing a patient with HeFH were more likely to prescribe to a pediatric patient with HeFH, either male (OR = 1.34, 95% CI = 0.99-1.81) or female (OR = 1.31, 95% CI = 0.99-1.72). Many physicians do not cascade screen and are less likely to screen individuals with family history of known HeFH compared to "high cholesterol or premature ASCVD". Most expressed willingness to screen pediatric patients, but few would start treatment at recommended ages. Further education is needed to improve diagnosis and treatment of HeFH.