Endocrine Abstracts

Introduction: Familial Chylomicronemia-FC syndrome is characterized by severely elevated triglyceride levels, i.e., levels of TG above 1000 mg/dl. Monogenic etiology is associated with a small but a significant fraction of Familial Chylomicronemia (FC) Syndrome cases, which is mainly attributed to a few genes, that are involved in Lipoprotein Lipase activity (LPL / LMF1 / APOC2 / GPIHBP1 / APOA5). Bi-allelic variants in these genes cause this rare Autosomal Recessive ...