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Most children identified via universal screening program genetically confirmed for FH
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Fifty-seven percent of children identified as having familial hypercholesterolemia using a national universal screening program were confirmed on genetic testing to have disease-causing variants for familial hypercholesterolemia, according to a recent report.
The findings support the validity of a universal screening approach in this population, but further confirmation is required, the researchers wrote in the Journal of the American College of Cardiology.
The study included data on 272 children in Slovenia born from 1989 to 2009. All of the children had total cholesterol greater than 5 mmol/L and a family history of premature CVD or total cholesterol greater than 6 mmol/L and no family history of premature CVD. The children were identified via national universal hypercholesterolemia screening in Slovenia. Patients underwent genotyping for the LDLR, PCSK9, APOB and APOE variants associated with familial hypercholesterolemia.
Overall, variants associated with familial hypercholesterolemia were identified in 57% of children, including LDLR variants in 38.6% and APOB variants in 18.4%. Eight novel and 23 known variants in LDLR were identified, along with one novel and two known APOB variants. Among the patients without disease-causing variants, 18.7% had the APOE E4 isoform and 24.3% had genetically undiagnosed conditions, the researchers wrote.
Patients with disease-causing variants in LDLR and APOB had higher mean total cholesterol levels than those without these variants on universal screening (7.7 ± 1.2 mmol/L vs. 6.6 ± 0.9 mmol/L; P < .0001).
The researchers calculated a detection rate of 53.6% for familial hypercholesterolemia using the universal screening program, assuming an incidence of 1 in 500, with a peak upper estimated detection rate of 96.3% during 2013.
“Our findings support the latest recommendations by professional forums for a universal screening for hypercholesterolemia in children,” the researchers concluded. “Coupled with a cascade screening [approach] for family members, universal screening for hypercholesterolemia could be a powerful approach for [familial hypercholesterolemia] detection and prevention of CV complications.”
In a related editorial, Stephen R. Daniels, MD, PhD, from the department of pediatrics at the University of Colorado School of Medicine, noted that this study clarifies some elements of universal familial hypercholesterolemia screening, but several questions remain. According to Daniels, it remains unknown the optimal age at which to initiate screening is unknown, the optimal lipid measure to use and whether familial hypercholesterolemia is best identified using lipid values alone or lipid values and family history in combination.
“More evidence is required to determine the optimal approach to screening for children with [familial hypercholesterolemia],” Daniels wrote. “Experience with screening programs such as the one in Slovenia is useful, but well-designed prospective studies to evaluate the screening process will be even more important to provide the needed answers.” – by Adam Taliercio
Disclosure: The researchers and Daniels report no relevant financial disclosures.
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