Detecting Familial hypercholesterolemia in children and adolescents: potential and challenges

Abstract

Background It is now well established that atherosclerosis begins in childhood and evolves through adolescence and young adulthood, ultimately resulting in myocardial infarction and stroke in adults. Main test Childhood is a critical phase during which atherosclerosis may begin to develop; in the presence of familial hypercholesterolemia, lifelong elevation of Low Density Lipoprotein cholesterol levels greatly accelerates atherosclerosis. These concepts, which have been largely developed from epidemiologic evidence, have not always been simple to implement in the paediatric clinical practice. The purpose of this article is to briefly review but also to highlight the rationale, the motivation and the methods in the process of identifying children and adolescents with familial hypercholesterolemia, an often hidden but very important genetic disease.

Hyperlipidemia and Cardiovascular Risk in Children and Adolescents

“…All the mutations causing FH are related to the metabolism of LDL; in fact, 85–90% of patients show abnormalities in the LDL receptor (LDLR). Specifically, this leads to a condition of absent or decreased activity of the accumulation of LDL particles in the plasma [ 45 ]. Other genes, even less rare, involved in the development of FH encode for ApoB, protein convertase subtilisin/kexin 9 (PCSK9) and LDLRAP1 [ 46 ].…”

New opportunities for identifying the risk of cardiovascular events in young people: the role of familial hypercholesterolemia

“…[8]. СГХС -самое частое моногенное заболевание с аутосомно-доминантным типом наследования, что определяет его высокую распространенность в популяции и возможность диагностики у детей и молодых людей [9]. По результатам исследования ЭССЕ-РФ, в России распространенность СГХС варьирует от 1:111 в центральных регионах до 1:309 в Сибири [10].…”

Health economics of detection and treatment of children with familial hypercholesterolemia: to screen or not to screen is no longer the question

“…HeFH diagnosis in children currently relies on clinical diagnostic criteria developed primarily from lipid clinic registries, such as the Simon-Broome diagnostic criteria and the Dutch Lipid Clinic Network criteria. These criteria, while effective for adults, often lack sensitivity and specificity when applied to children [25]. Clinical features of HeFH are rare in paediatric patients, and first-degree relatives of affected children are typically young and may not exhibit atherosclerotic manifestations.…”