EC Gastroenterology and Digestive System

Research Article Volume 9 Issue 11 - 2022

An Expanded View on the Importance of Early Diagnosis of Family Hypercholesterolemia

Zorzo RA1*, Honorato ALSC2, Suen VMM3 and Liberatore RDR JR4

1Professor of Faculty of Medicine of Estacio University, Ribeirão Preto and Post-graduation Student (PhD Level) by Children and Adolescents Health in Ribeirão Preto Medical School, São Paulo University, Brazil
2Post-Graduation Student (PhD Level) by Internal Medicine Department in Ribeirão Preto Medical School, São Paulo University, Brazil
3Professor from the Department of Internal Medicine, Division of Nutrology, Ribeirão Preto Medical School, University of São Paulo
4Professor Associated in Pediatrics Department in Ribeirão Preto Medical School, São Paulo University, Brazil
*Corresponding Author: Zorzo RA, Professor of Faculty of Medicine of Estacio University, Ribeirão Preto and Post-graduation Student (PhD Level) by Children and Adolescents Health in Ribeirão Preto Medical School, São Paulo University, Brazil.
Received: October 03, 2021;Published: October 07, 2022



Familial hypercholesterolemia (FH) is an autosomal codominant disease that has an estimated prevalence of 1:500 in general population. When not diagnosed early, its outcomes in coronary artery and brain disease tend to have an early presentation, with a high risk of death. Its origin is related to a mutation in the LDLR, APOB and PCSK9 genes, and possibly epigenetic alterations as well. This study aimed to review the last five years of the literature on the disease in pediatric age.

 

Keywords: Expanded; Importance; Diagnosis of Family; Hypercholesterolemia

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Zorzo RA., et al. “An Expanded View on the Importance of Early Diagnosis of Family Hypercholesterolemia”. ”. EC Gastroenterology and Digestive System  9.11 (2022): 01-05.

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