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

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.

Analysis of Rare Variants in Genes Related to Lipid Metabolism in Patients with Familial Hypercholesterolemia in Western Siberia (Russia)

“…In this study, the prevalence of detected "pathogenic" and "probably pathogenic" mutations was 47.5% among the analyzed probands with a phenotype of familial hypercholesterolemia from the Western Siberia region (Russia) and 85.7% among their tested children who also had a phenotype of familial hypercholesterolemia. As in other studies, this finding confirms the effectiveness of cascade genetic screening [45][46][47][48][49][50].…”

“I don’t think people should die young”: Perspectives of parents with children diagnosed with familial hypercholesterolemia

“…For some study participants, they described having to research and establish post-diagnosis care for their children independently due to a lack of referral to specialists or a perceived limitation of non-lipid specialists' ability in treating pediatric FH. This re ects previous studies that have reported inconsistent referral practice among pediatricians and found that pediatricians expressed uneasiness in treating dyslipidemia in children (Dixon DB et al, 2014;de Ferranti SD et al 2017;Soukup J et al 2021;Peterson AL et al 2021). Despite these barriers, our parents indicated they were motivated and able to obtain follow-up care for their children as a result of their familiarity with the healthcare system through having FH themselves and/or their ability to nd online resources such as the Family Heart Foundation.…”

“…lipid specialist) regarding starting medication earlier than the recommended age. Previous regional and national studies on provider practices found only a small fraction of pediatricians expressed willingness to start treatment at the recommended ages (de Ferranti SD et al 2017; Peterson AL et al 2021). We hypothesize parental views on medication in children may be in uenced by multiple factors including the advice from their pediatric provider and the parent's ability to seek out updated treatment and management guidelines (Keenan KF et al 2019).…”

Cascade screening for familial hypercholesterolemia should be organized at a national level

“…These family members may also often consult other physicians and they may live in a different part of the country than the index patient. The failure of general practitioners and cardiologists to perform cascade screening is illustrated by a recent survey in the United States [27]. Only 54% of the general practitioners and cardiologists in that study reported that they would recommend cascade screening in an adult first-degree relative and only 7% reported that they would recommend screening of 2-8 years old children [27].…”