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Data highlight growing use of universal screening to identify pediatric patients with familial hypercholesterolemia
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CHICAGO — Universal screening of children for familial hypercholesterolemia has become more common in recent years, and has resulted in greater diagnosis of children that had not been identified via a selective screening process, researchers reported at the National Lipid Association Scientific Sessions.
The study was designed to determine trends in universal screening following a 2011 recommendation from the National Heart, Lung and Blood Institute that all children aged 9 to 11 years be screened for elevated cholesterol at least once, and again at age 17 to 21 years. Researchers also assessed the impact of cascade-screening efforts, in which first-degree family members of children diagnosed with familial hypercholesterolemia are screened for the disorder, Amy L.H. Peterson, MD, medical director of the pediatric preventive cardiology clinic and assistant professor of pediatrics in the division of pediatric cardiology at the University of Wisconsin School of Medicine and Public Health, said during a presentation.
Peterson and colleagues conducted a retrospective chart review that included data on 42 patients diagnosed with familial hypercholesterolemia at a single pediatric dyslipidemia clinic between February 2011 and December 2014. The study population included 10 patients who had a prior familial hypercholesterolemia diagnosis at presentation. The cohort was 55% male; the median age was 10.4 years; and 55% were overweight. All patients, except one, had a family history of early CVD.
According to the results presented, universal screening was the primary indication for the initial lipid screen in an increasing number of cases from 2011 to 2014, and accounted for 60% of identified patients in 2014. All patients screened prior to 2011 were screened due to a family risk factor.
Cascade lipid screening of first-degree family members was performed on the 24 patients who were the proband diagnosis of familial hypercholesterolemia in their family, Peterson said. Twenty members of 15 families were subsequently diagnosed with familial hypercholesterolemia, and the affected parent was identifiable in 14 cases.
Thirty-two patients were prescribed statin monotherapy or statin therapy in combination with other lipid-lowering agents. Twenty-nine patients reported excellent adherence to treatment, which was defined as taking the medication on 15 or more of the 21 days prior to an appointment. The treated patients exhibited a mean reduction in LDL of approximately 50%. There were no reported adverse events.
Peterson concluded that provider participation in universal lipid screening can help to identify both children and family members with familial hypercholesterolemia.
“Universal screening does lead to diagnoses,” she said. “But, I think more importantly it raises provider awareness of pediatric dyslipidemia, which will then in turn enhance selective screening efforts. We are seeing both types of referrals coming in.”
Peterson was named the Foundation of the NLA Hunninghake FH Abstract Award Winner for this research. – by Adam Taliercio
Reference:
Stempel H, et al. Abstract #151. Presented at: National Lipid Association Scientific Sessions; June 11-14, 2015; Chicago.
Disclosure: The researchers report no relevant financial disclosures.