Familial hypertriglyceridemia/polygenic hypertrigliceridemia

Abstract

For decades, familial hypertriglyceridemia (HTG) has been considered a specific entity characterized by an increase in VLDL particles and an autosomal dominant inheritance pattern. In the genomics era, it has been proven that familial HTG, although it could be grouped in families, had a polygenic inheritance in which the phenotype would be determined by concomitant environmental factors. Hence its inclusion in the group of polygenic HTGs. Clinically, they are characterized by moderate HTG, with the consequent increase in cardiovascular risk, and in rare cases, by severe HTG with risk of acute pancreatitis. Treatment will be based on controlling environmental factors, implementing hygienic-dietetic measures and sometimes drugs, to reduce cardiovascular risk in moderate HTGs and acute pancreatitis risk in severe HTGs.

Keywords: Familial hypertriglyceridemia; Lipoproteins; Lipoproteínas; Polygenic hypertriglyceridemia; Quilomicronemia familiar; Quilomicronemia poligénica; Triglicéridos; Triglycerides.