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- Title
GENetic characteristics and REsponse to lipid-lowering therapy in familial hypercholesterolemia: GENRE-FH study.
- Authors
Kim, Hyoeun; Lee, Chan Joo; Pak, Hayeon; Kim, Doo-Il; Rhee, Moo-Yong; Lee, Byoung Kwon; Ahn, Youngkeun; Cho, Byung-Ryul; Woo, Jeong-Taek; Hur, Seung-Ho; Jeong, Jin-Ok; Lee, Ji Hyun; Lee, Sang-Hak
- Abstract
Among the 146 patients enrolled in the Korean FH registry, 83 patients who had undergone appropriate LLT escalation and were followed-up for ≥ 6 months were analyzed for pathogenic variants (PVs). The achieved percentage of expected low-density lipoprotein-cholesterol (LDL-C) reduction (primary variable) and achievement rates of LDL-C 2 = 0.045, p = 0.048). Among evolocumab users, PV-negative patients or those with only defective PVs revealed higher primary variable, whereas patients with at least one null PV showed lower primary variables. The adjusted response of patients with FH to LLT showed significant associations with PV positivity and 4-SNP score. These results may be helpful in managing FH patients with diverse genetic backgrounds.
- Subjects
LOW density lipoproteins; CHOLESTEROL; ANTILIPEMIC agents; HYPERCHOLESTEREMIA; TREATMENT effectiveness
- Publication
Scientific Reports, 2020, Vol 10, Issue 1, pN.PAG
- ISSN
2045-2322
- Publication type
Academic Journal
- DOI
10.1038/s41598-020-75901-0