Familial hypertriglyceridemia: an entity with distinguishable features from other causes of hypertriglyceridemia

Ivette Cruz-Bautista; Alicia Huerta-Chagoya; Hortensia Moreno-Macías; Rosario Rodríguez-Guillén; María Luisa Ordóñez-Sánchez; Yayoi Segura-Kato; Roopa Mehta; Paloma Almeda-Valdés; Lizeth Gómez-Munguía; Ximena Ruiz-De Chávez; Ximena Rosas-Flota; Arali Andrade-Amado; Bárbara Bernal-Barroeta; María Guadalupe López-Carrasco; Luz Elizabeth Guillén-Pineda; Angelina López-Estrada; Daniel Elías-López; Alexandro J. Martagón-Rosado; Donají Gómez-Velasco; Cesar Ernesto Lam-Chung; Omar Yaxmehen Bello-Chavolla; Fabiola Del Razo-Olvera; Lucely D. Cetina-Pérez; José Luis Acosta-Rodríguez; María Teresa Tusié-Luna; Carlos A. Aguilar-Salinas

Familial hypertriglyceridemia: an entity with distinguishable features from other causes of hypertriglyceridemia

2021

Abstract Background 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. Methods 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. Results 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. Conclusions 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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