Cascade screening for familial hypercholesterolemia: Practical consequences

Atherosclerosis. Supplements
Leonora LouterJeanine E Roeters van Lennep

Abstract

Familial Hypercholesterolemia (FH) is an autosomal dominant disorder mainly caused by mutations in the LDLR gene, resulting in elevated serum cholesterol levels and elevated risk of premature cardiovascular disease (CVD). Timely treatment with lipid lowering medication can lower the risk of CVD to the same level of the normal population. Currently the incidence of FH is estimated at 1 in 240 persons in the Caucasian population. A diagnosis of FH can be made on the basis of clinical criteria (including LDL cholesterol and family history) or DNA testing. When a mutation is known within a family an unequivocal diagnosis can be made by DNA testing in family members at any age. Genetic cascade screening is a cost-effective way to identify patients and prevent CVD. Between 1994 until 2014 a nationwide and government subsidized cascade screening program functioned to identify FH patients in the Netherlands. During this time more than 28,000 patients with FH have been identified and entered in a central, national database. Since 2014 cascade screening has been integrated in the regular Dutch health care system. Screening, counseling and treatment are now integrated in the care as a whole of FH patients and families, coordinated by the ...Continue Reading

Citations

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