Referral Patterns and Cascade Screening for Familial Hypercholesterolemia in a Pediatric Lipid Clinic

Stempel, Hilary; Dodge, Ann; Marriott, Erin; Peterson, Amy L.

doi:10.1016/j.jpeds.2016.08.016

Cited by 11 publications

(4 citation statements)

References 13 publications

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“…This study complements previous studies assessing the implementation of universal pediatric lipid screening (Dixon et al ) and the extent of cascade screening for FH (Stempel et al ) by providing the first data on factors influencing family notification of FH risk within a pediatric population in the USA. Our data also show that notification at least out to second‐degree relatives occurred in most families.…”

Section: Discussionsupporting

confidence: 60%

“…Yet, no nationwide population or cascade screening program currently exists, and the diagnosis rate for FH in the US is estimated to be < 1% of expected cases (Gonzalez Santos and Underberg 2011;Nordestgaard et al 2013). Even when a pediatric FH case is identified, one study in a US pediatric clinic reported an average of only 1.5 relatives diagnosed per index case (Stempel et al 2016); in the Netherlands, that average was 8 (Defesche 2010).…”

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confidence: 99%

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Risk Communication in Families of Children with Familial Hypercholesterolemia: Identifying Motivators and Barriers to Cascade Screening to Improve Diagnosis at a Single Medical Center

Wurtmann

Steinberger

Veach

et al. 2018

Journal of Genetic Counseling

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Familial hypercholesterolemia (FH) is severely underdiagnosed in the USA; yet, factors influencing family notification about risk for FH in the US pediatric setting have not been well elucidated. Most previous research on these factors has occurred in adult patient populations in European countries with organized cascade screening programs; therefore, we sought to characterize parent experiences with cascade screening in the US pediatric setting. A quantitative survey measuring family notification of FH risk information was administered to 38 parents of children with FH identified within a pediatric cardiology clinic. Participants were also asked if family notification was impacted by intrapersonal, interpersonal, institutional, community, and public policy factors identified previously in other populations. Notification of at least one of the proband's living grandparents or aunts/uncles was reported by 76% (n = 25/33) and 71% (n = 24/34) of participants, respectively. The most common reason for notification was to protect relatives from heart disease. Two of the most common reasons participants did not notify relatives were a lack of information about FH and concern that the relative would have difficulty understanding the information. Yet, only a minority of participants (39%) accessed institutional resources such as educational materials to share with relatives or assistance drafting a family letter that could address these barriers. Based on the identified barriers and motivators for family communication, we suggest facilitators to improve implementation of cascade screening.

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Section: Discussionsupporting

confidence: 60%

mentioning

confidence: 99%

Risk Communication in Families of Children with Familial Hypercholesterolemia: Identifying Motivators and Barriers to Cascade Screening to Improve Diagnosis at a Single Medical Center

Wurtmann

Steinberger

Veach

et al. 2018

Journal of Genetic Counseling

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“…The 2018 Multi-Society guidelines for cholesterol management assigned universal pediatric cholesterol screening a 2B recommendation, implying the intervention “may be reasonable” and “effectiveness is unclear” [ 15 ]. Universal pediatric cholesterol screening has been shown to increase detection of HeFH [ 16 ] but these guidelines are not well-recognized by physicians [ 17 , 18 , 19 ], which may lead to under-recognition of HeFH in children and young adults.…”

Section: Introductionmentioning

confidence: 99%

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

Peterson

Bang

Block

et al. 2021

JCM

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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.

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“…[29][30][31][32] Three of the studies also report on follow-up outcome of subjects with both primary and secondary dyslipidemias. [29][30][31] Stempel et al 32 reported that significantly more children with familial hypercholesterolemia were referred to their primary dyslipidemia clinic after the guideline release (n = 14 from February 2011 to December 2011 vs n = 28 from January 2013 to December 2014). Additionally, the sample size of our study is larger than the aforementioned pediatric lipid clinic studies.…”

Section: Discussionmentioning

confidence: 99%

Characteristics of Children Referred to a Lipid Clinic Before and After the Universal Screening Guidelines

Selvaraj

Olave-Pichon²,

Benuck

et al. 2019

Clin Pediatr (Phila)

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In 2011, universal lipid screening was recommended for children aged 9 to 11 years; the impact of this recommendation on the lipid clinic setting is unknown. We examined the rate of primary and secondary dyslipidemia diagnoses in a lipid clinic before (2010-2011) and after (2012-2015) the guideline recommendation. We conducted a retrospective study of new clinic patients aged 0 to 20 years seen between April 2010 and April 2015. Chi-square testing was applied. The 345 subjects were 58% males; 48% ≥13 years; 56% Hispanic; and 59% obese. There was no difference in the rate of dyslipidemia diagnoses between periods (before: primary 23%, secondary 73%, no dyslipidemia 4% vs after: 22%, 72%, 6%, respectively; P = .616). There was no significant difference between periods in subject demographics for the total sample, but among those with primary dyslipidemia, pre- to post-guideline percentage of subjects with public insurance decreased (71% to 39%; P = .006). Additional strategies to increase identification of children with dyslipidemia are needed.

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Referral Patterns and Cascade Screening for Familial Hypercholesterolemia in a Pediatric Lipid Clinic

Cited by 11 publications

References 13 publications

Risk Communication in Families of Children with Familial Hypercholesterolemia: Identifying Motivators and Barriers to Cascade Screening to Improve Diagnosis at a Single Medical Center

Risk Communication in Families of Children with Familial Hypercholesterolemia: Identifying Motivators and Barriers to Cascade Screening to Improve Diagnosis at a Single Medical Center

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

Characteristics of Children Referred to a Lipid Clinic Before and After the Universal Screening Guidelines

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