Spectrum of Mutations and Long-Term Clinical Outcomes in Genetic Chylomicronemia Syndromes

• Published in: Arteriosclerosis, thrombosis, and vascular biology Vol. 39; no. 12; pp. 2531 - 2541
• Main Authors: D’Erasmo, Laura, Di Costanzo, Alessia, Cassandra, Francesca, Minicocci, Ilenia, Polito, Luca, Montali, Anna, Ceci, Fabrizio, Arca, Marcello
• Format: Journal Article
• Language: English
• Published: United States American Heart Association, Inc 01.12.2019
• Subjects: Adolescent; Adult; Aged; Alleles; Apolipoprotein A-V - genetics; Apolipoprotein A-V - metabolism; DNA - genetics; DNA Mutational Analysis; Female; Follow-Up Studies; Genotype; Humans; Hyperlipoproteinemia Type I - genetics; Hyperlipoproteinemia Type I - metabolism; Lipoprotein Lipase - genetics; Lipoprotein Lipase - metabolism; Male; Middle Aged; Mutation; Prognosis; Time Factors; Young Adult; genetics; triglycerides; familial hyperchylomicronemia; humans; lipoprotein lipase

OBJECTIVE:Familial chylomicronemia syndrome (FCS) and multifactorial chylomicronemia syndrome (MCS) are the prototypes of monogenic and polygenic conditions underlying genetically based severe hypertriglyceridemia. These conditions have been only partially investigated so that a systematic compariso...