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

Autor: Lizeth Gómez-Munguía, Omar Yaxmehen Bello-Chavolla, María Luisa Ordóñez-Sánchez, Fabiola Mabel Del Razo-Olvera, Ivette Cruz-Bautista, Luz E. Guillén-Pineda, María Teresa Tusié-Luna, César Ernesto Lam-Chung, Rosario Rodríguez-Guillén, Daniel Elías-López, Roopa Mehta, Carlos A. Aguilar-Salinas, Hortensia Moreno-Macías, Yayoi Segura-Kato, Ximena Ruiz-De Chávez, Bárbara Bernal-Barroeta, Donaji V. Gómez-Velasco, José Luis Acosta-Rodríguez, María Guadalupe López-Carrasco, Angelina López-Estrada, Arali Andrade-Amado, Alicia Huerta-Chagoya, Alexandro J. Martagón-Rosado, Lucely D Cetina-Pérez, Ximena Rosas-Flota, Paloma Almeda-Valdes
Rok vydání: 2020
Předmět:
Male
Apolipoprotein B
Endocrinology
Diabetes and Metabolism
Clinical Biochemistry
Endocrinology
ANGPTL3
Primary dyslipidemias
Insulin
lcsh:RC620-627
Hypertriglyceridemia
biology
GPIHBP1
Mexicans
Middle Aged
Familial hypertriglyceridemia
lcsh:Nutritional diseases. Deficiency diseases
lipids (amino acids
peptides
and proteins)
Female
Apolipoprotein A-II
Adult
medicine.medical_specialty
Chylomicronemia
Clinical chemistry
Single-nucleotide polymorphism
Clinical nutrition
Hyperlipoproteinemia Type IV
Polymorphism
Single Nucleotide
Diagnosis
Differential
Internal medicine
medicine
Humans
Triglycerides
Angiopoietin-Like Protein 3
Apolipoproteins B
Receptors
Lipoprotein
FGF-21
business.industry
Research
Biochemistry (medical)
Membrane Proteins
medicine.disease
Fibroblast Growth Factors
Lipoprotein Lipase
Angiopoietin-like Proteins
Apolipoprotein A-V
biology.protein
Apolipoprotein C-II
business
Dyslipidemia
Zdroj: Lipids in Health and Disease
Lipids in Health and Disease, Vol 20, Iss 1, Pp 1-13 (2021)
ISSN: 1476-511X
Popis: 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 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.
Databáze: OpenAIRE
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