Article
Comprehensive analysis of Chinese patients with non-LPL familial chylomicronemia syndrome: Genetic variants, dietary interventions, and clinical insights.
Journal of clinical lipidology - 1 Jan 2024
Gong Zizhen, Xia Yu, Sun Chengkai, Zheng Wanqi, Du Taozi, Liang Lili, Wang Ruifang, Zhang Kaichuang, Yang Yi, Sun Manqing, Sun Yu, Xiao Bing, Qiu Wenjuan
Abstract excerpt
BACKGROUND: Familial chylomicronemia syndrome (FCS) comprises a group of ultrarare disorders caused by biallelic variants in LPL or, less frequently, by GPIHBP1, APOC2, APOA5, or LMF1. OBJECTIVES: To evaluate the phenotypes and management of eight non-lipoprotein lipase (LPL)-FCS patients. METHODS: Seven pediatric and one adult patients with non-LPL-FCS were enrolled. Clinical features, treatment outcomes, and...
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