Hyperlipoproteinemia Type II/genetic

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Editorial

Predictors of Family Recruitment in a Program of Genetic Cascade Screening for Familial Hypercholesterolemia

Maria Cristina de Oliveira Izar et al. Francisco Antonio Helfenstein Fonseca

Familial hypercholesterolemia (FH) is a common inherited disease affecting lipid metabolism; it is associated with lifelong exposure to high levels of LDL-cholesterol, and premature atherosclerotic cardiovascular disease. FH imposes an enormous burden on patients and their relatives, due to years of life lost, and particularly, for not being diagnosed as an entity.

In spite of the high LDL-cholesterol and even after an atherosclerotic event, a large proportion of individuals with FH remains undiagnosed.^, Criteria for diagnosing FH are based on clinical findings, family history, LDL-cholesterol levels, and genetic testing (Simon Broome or Dutch Lipid Clinic Network), or on the LDL-cholesterol levels alone (US MED PED). However, FH phenotypes can vary, and the lack of physical signs (15-30% of patients with genetic diagnosis of FH present xanthomas or corneal arcus, and 5% have xanthelasma) can contribute for the underdiagnosis of FH. ^–

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Predictors of Family Recruitment in a Program of Genetic Cascade Screening for Familial Hypercholesterolemia

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