Presenter of 1 Presentation
UNIVERSAL SCREENING IS AN EFFECTIVE STRATEGY FOR DETECTING PATIENTS WITH FAMILIAL HYPERCHOLESTEROLEMIA
Abstract
Background and Aims
In Europe, over 2 million individuals with familial hypercholesterolemia are currently undiagnosed. Effective screening strategies for the diagnosis of familial hypercholesterolemia in childhood are urgently needed.
Methods
We analyzed the data from our general pediatric population based on over 150,000 individuals screened for hypercholesterolemia. Next-generation sequencing genetic analyses of familial hypercholesterolemia-related genes were finalized in 813 patients with elevated cholesterol levels.
Results
The cohort-based prevalence of heterozygous familial hypercholesterolemia from the universal screening program was estimated at 1/431 (95% CI: 1/391-1/472). The direct costs per new genetically confirmed case were 938$ per new detected case. For LDL cholesterol levels of 3.5 mmol L (135.3 mg/dL), the overall sensitivity and specificity for confirming familial hypercholesterolemia were 90.5% and 55.3%, respectively. As a part of the child-parent screening, in over 90% of the families, the parent with reported higher cholesterol levels had a familial genetic variant.
Conclusions
Universal screening for familial hypercholesterolemia in children followed by cascade screening of parents may be a feasible, effective, and potentially widely applicable strategy to address this important global public health concern early in life.