Lessening the Burden of Familial Hypercholesterolemia Using Health Information Technology.

Despite advances in our understanding of heritable lipid disorders and the availability of highly effective lipid-lowering drugs, the awareness, detection, and control of familial hypercholesterolemia (FH) remain suboptimal.1 A major reason for the low detection rate in the United States is the lack of a widely accepted screening strategy, despite the recommendations for universal or targeted lipid screening by several expert panels. Although the use of universal lipid screening remains a matter of debate, cascade screening (a form of targeted screening of family members of affected individuals) is acknowledged as the most cost-effective screening strategy for FH. In the Netherlands >26 000 new cases were identified over 2 decades by genotyping family members of FH probands, and it is estimated that genetic cascade screening, coupled with statin therapy for diagnosed patients, could save $92 million per year in the European Union.1