Familial hypercholesterolemia in Chinese children and adolescents: a multicenter study

Area of Science:

• Genetics
• Pediatrics
• Cardiovascular Disease

Background:

• Familial hypercholesterolemia (FH) is an inherited disorder causing high LDL-C and early cardiovascular disease risk.
• Characterizing FH in Chinese pediatric patients is essential for understanding genetic diversity.

Purpose of the Study:

• To investigate the genetic spectrum of FH in Chinese children.
• To explore genotype-phenotype correlations in this population.

Main Methods:

• Clinical and genetic data from 140 Chinese pediatric FH patients (Jan 2016-June 2024) were analyzed.
• Genetic variants in LDLR, APOB, and PCSK9 genes were identified.

Main Results:

• 87 distinct variants were found, including 11 novel worldwide variants (9 pathogenic/likely pathogenic).
• Common variants like c.1448G>A (p.W483*) in LDLR were prevalent in the Chinese population.
• Only 28.57% of patients used lipid-lowering medications, with delayed treatment initiation in homozygous FH (HoFH) cases.

Conclusions:

• Chinese pediatric FH exhibits distinct genotypes compared to Caucasians.
• Underdiagnosis and undertreatment necessitate improved early lipid/genetic screening and timely pharmacological interventions.