Detecting Familial hypercholesterolemia in children and adolescents: potential and challenges

Ital J Pediatr. 2022 Jul 15;48(1):115. doi: 10.1186/s13052-022-01257-y.

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.

Keywords: Cardiovascular disease; Children; Familial hypercholesterolemia; Screening.

Publication types

  • Review

MeSH terms

  • Adolescent
  • Adult
  • Atherosclerosis* / diagnosis
  • Atherosclerosis* / epidemiology
  • Child
  • Cholesterol, LDL
  • Humans
  • Hydroxymethylglutaryl-CoA Reductase Inhibitors*
  • Hyperlipoproteinemia Type II* / diagnosis
  • Hyperlipoproteinemia Type II* / epidemiology
  • Hyperlipoproteinemia Type II* / genetics
  • Stroke*
  • Young Adult

Substances

  • Cholesterol, LDL
  • Hydroxymethylglutaryl-CoA Reductase Inhibitors