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Familial Hypercholesterolemia: A Narrative Review on Diagnosis and Management Strategies for Children and Adolescents

Authors Tada H, Takamura M, Kawashiri M

Received 13 December 2020

Accepted for publication 28 January 2021

Published 17 February 2021 Volume 2021:17 Pages 59—67


Checked for plagiarism Yes

Review by Single anonymous peer review

Peer reviewer comments 2

Editor who approved publication: Dr Pietro Scicchitano

Hayato Tada, Masayuki Takamura, Masa-aki Kawashiri

Department of Cardiology, Kanazawa University Graduate School of Medicine, Kanazawa, Japan

Correspondence: Hayato Tada
Department of Cardiology, Kanazawa University Graduate School of Medicine, 13-1 Takara-Machi, Kanazawa, 920-8641, Japan
Tel +81-76-265-2000 (2251)
Fax +81-76-234-4251

Abstract: Familial hypercholesterolemia (FH) is a relatively common inherited disorder caused by deleterious mutation(s) in the low-density lipoprotein (LDL) receptor or its associated genes. Given its nature as a heritable disease, any useful screening scheme, including universal, and cascade screening, allows for the early identification of patients with FH. Another important aspect to note is that early diagnosis associated with appropriate treatment can promote better prognosis. However, most clinical diagnostic criteria for adults have adopted clinical elements, such as physical xanthomas and family history, both of which are usually obscure and/or difficult to obtain in children and adolescents. Moreover, LDL cholesterol levels fluctuating considerably during adolescence, hindering the timely diagnosis of FH. In addition, recent advancements in human genetics have revealed several types of FH, including conventional monogenic FH, polygenic FH caused by common single nucleotide variations (SNV) accumulation associated with elevated LDL cholesterol, and oligogenic FH with multiple deleterious genetic variations leading to substantially elevated LDL cholesterol. The aforementioned findings collectively suggest the need for amassing information related to genetics and imaging, in addition to classical clinical elements, for the accurate diagnosis of FH in this era of personalized medicine. The current narrative review summarizes the current status of the clinical and genetic diagnosis of FH in children and adolescents, as well as provide useful management strategies for FH in children and adolescents based on currently available clinical evidence.

Keywords: familial hypercholesterolemia, cardiovascular disease, statin, children, adolescents

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