Familial hypertriglyceridemia (FHTG) is a partially characterized primary dyslipidemia which is frequently confused with other forms hypertriglyceridemia. The aim of this work is to search for specific features that can help physicians recognize this disease. This study included 84 FHTG cases, 728 subjects with common mild-to-moderate hypertriglyceridemia (CHTG) and 609 normotriglyceridemic controls. All subjects underwent genetic, clinical and biochemical assessments. A set of 53 single nucleotide polymorphisms (SNPs) previously associated with triglycerides levels, as well as 37 rare variants within the five main genes associated with hypertriglyceridemia (i.e. LPL, APOC2, APOA5, LMF1 and GPIHBP1) were analyzed. A panel of endocrine regulatory proteins associated with triglycerides homeostasis were compared between the FHTG and CHTG groups. Apolipoprotein B, fibroblast growth factor 21(FGF-21), angiopoietin-like proteins 3 (ANGPTL3) and apolipoprotein A-II concentrations, were independent components of a model to detect FHTG compared with CHTG (AUC 0.948, 95%CI 0.901–0.970, 98.5% sensitivity, 92.2% specificity, P < 0.001). The polygenic set of SNPs, accounted for 1.78% of the variance in triglyceride levels in FHTG and 6.73% in CHTG. The clinical and genetic differences observed between FHTG and CHTG supports the notion that FHTG is a unique entity, distinguishable from other causes of hypertriglyceridemia by the higher concentrations of insulin, FGF-21, ANGPTL3, apo A-II and lower levels of apo B. We propose the inclusion of these parameters as useful markers for differentiating FHTG from other causes of hypertriglyceridemia.

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家族性高甘油三酯血症：与其他原因引起的高甘油三酯血症具有明显特征的实体

家族性高甘油三酯血症（FHTG）是一种部分特征性的原发性血脂异常，经常与其他形式的高甘油三酯血症混淆。这项工作的目的是寻找可以帮助医生识别这种疾病的特定特征。这项研究包括 84 名 FHTG 病例、728 名患有常见轻度至中度高甘油三酯血症 (CHTG) 的受试者和 609 名甘油三酯正常对照者。所有受试者均接受遗传、临床和生化评估。分析了一组 53 个先前与甘油三酯水平相关的单核苷酸多态性 (SNP)，以及与高甘油三酯血症相关的 5 个主要基因（即 LPL、APOC2、APOA5、LMF1 和 GPIHBP1）内的 37 个罕见变异。在 FHTG 和 CHTG 组之间比较了一组与甘油三酯稳态相关的内分泌调节蛋白。与 CHTG 相比，载脂蛋白 B、成纤维细胞生长因子 21 (FGF-21)、血管生成素样蛋白 3 (ANGPTL3) 和载脂蛋白 A-II 浓度是检测 FHTG 模型的独立组成部分（AUC 0.948，95%CI 0.901–0.970 ，98.5% 敏感性，92.2% 特异性，P < 0.001）。多基因组 SNP 占 FHTG 中甘油三酯水平变异的 1.78%，占 CHTG 中甘油三酯水平变异的 6.73%。FHTG 和 CHTG 之间观察到的临床和遗传差异支持这样的观点，即 FHTG 是一个独特的实体，其与高甘油三酯血症的其他原因的区别在于较高浓度的胰岛素、FGF-21、ANGPTL3、apo A-II 和较低水平的 apo B。我们建议将这些参数作为区分 FHTG 与高甘油三酯血症其他原因的有用标记。