Family hypercholesterolemia due to

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 follow-up. Next-generation and Sanger sequencing were performed to identify disease-causing variants in twenty-one index cases. Results: We found eighteen heterozygous and two homozygous/one compound heterozygous FH cases. Fourteen distinct variants were identified, with the most prevalent being c.664 T > C and c.681C>G, and exon 15 deletion. Furthermore, we identified the c.161A>C variant, which remains unreported in the literature. The median age at diagnosis was 6.7 years (0.5-17.5) and 8.3 years (6.3-13.3) in heterozygous and homozygous/compound heterozygous groups, respectively. 100 % homozygous/compound heterozygous cases and 16.7 % heterozygous cases presented xanthomas. The median plasma levels of LDL in heterozygous and homozygous/compound heterozygous groups were 6.6 mmol/l (3.8-12) and 10.8 mmol/l (10.7-11.7), respectively. Conclusions: FH can appear early in childhood, and xanthomas primarily manifest in homozygous FH patients.