Molecular diagnosis of primary hypertriglyceridemias by next generation sequencing (NGS): Preliminary results and open questions

Objective: Molecular characterization of patients with severe primary hypertriglyceridemia (HTG) (plasma triglyceride > 10 mmol/L) with plasma accumulation of chylomicrons in the fasting state (familial chylomicronemia). This disorder may be due to mutations in genes involved in the lipolytic cascade, the process of hydrolysis of triglycerides in chylomicrons and VLDL mediated by Lipoprotein Lipase (LPL).