AIM: To investigate the correlation between xanthelasma palpebrarum(XP)and the genetic factor of hypercholesterolemia and provide a basis for the elucidation of the pathogenesis of xanthelasma palpebrarum.

METHODS: A total of 29 patients with XP who treated in the ophthalmology department of Foshan Sanshui District People's Hospital from November 2019 to January 2021 were selected. Peripheral blood was drawn, and the Next Generation Sequencing(NGS)technology was used to detect the genetic mutations of patients, while blood lipids of XP patients were analyzed.

RESULTS: Gene mutations were detected in 21 patients with XP, among which 13 cases had hypercholesterolemia and 8 cases had normal cholesterol levels. Genes including STAP1, APOB, LDLRAP1, LDLR, PCSK9 and APOE mutated, and the types of gene mutation included 3-UTR mutation, in-frame deletion, missense mutation, 5-UTR mutation, synonymous mutation, intronic mutation, alternative splice variant, non coding transcript exon variant, and non coding transcript variant.

CONCLUSION: There is a correlation between genetic factors of hypercholesterolemia and XP.