Family hypercholesterolemia due to <i>LDLR</i> gene in Vietnamese children: characteristics of phenotype and genotype.

ABSTRACT:

Background

Familial hypercholesterolemia (FH) results in elevated LDL cholesterol, contributing to atherosclerosis and early-onset cardiovascular disease. Mutations in the low-density lipoprotein receptor gene are the most common cause of familial hypercholesterolemia. Information regarding hypercholesterolemia in low- and middle-income nations is inadequate. This research aimed to characterise the phenotype and genotype of Vietnamese children diagnosed with familial hypercholesterolemia.

Methods

This study included twenty-one children diagnosed with familial hypercholesterolemia from 15 unrelated families. Data regarding physical characteristics, biochemical testing, cardiac ultrasound, coronary angiography, and dual-source computed tomography were gathered at diagnosis and

SUBMITTER: Do MTT 

PROVIDER: S-EPMC12167064 | biostudies-literature | 2025 Jun

REPOSITORIES: biostudies-literature