Hegele, Robert A2; Ginsberg, Henry N2; Chapman, M John2; Nordestgaard, Børge G3; Kuivenhoven, Jan Albert2; Averna, Maurizio2; Borén, Jan2; Bruckert, Eric2; Catapano, Alberico L2; Descamps, Olivier S2; Hovingh, G Kees2; Humphries, Steve E2; Kovanen, Petri T2; Masana, Luis2; Pajukanta, Päivi2; Parhofer, Klaus G2; Raal, Frederick J2; Ray, Kausik K2; Santos, Raul D2; Stalenhoef, Anton F H2; Stroes, Erik2; Taskinen, Marja-Riitta2; Tybjærg-Hansen, Anne3; Watts, Gerald F2; Wiklund, Olov2
1 Department of Clinical Medicine, Department of Clinical Medicine, Faculty of Health and Medical Sciences, Københavns Universitet2 unknown3 Department of Clinical Medicine, Department of Clinical Medicine, Faculty of Health and Medical Sciences, Københavns Universitet
implications for definition, diagnosis, and management
Plasma triglyceride concentration is a biomarker for circulating triglyceride-rich lipoproteins and their metabolic remnants. Common mild-to-moderate hypertriglyceridaemia is typically multigenic, and results from the cumulative burden of common and rare variants in more than 30 genes, as quantified by genetic risk scores. Rare autosomal recessive monogenic hypertriglyceridaemia can result from large-effect mutations in six different genes. Hypertriglyceridaemia is exacerbated by non-genetic factors. On the basis of recent genetic data, we redefine the disorder into two states: severe (triglyceride concentration >10 mmol/L), which is more likely to have a monogenic cause; and mild-to-moderate (triglyceride concentration 2-10 mmol/L). Because of clustering of susceptibility alleles and secondary factors in families, biochemical screening and counselling for family members is essential, but routine genetic testing is not warranted. Treatment includes management of lifestyle and secondary factors, and pharmacotherapy. In severe hypertriglyceridaemia, intervention is indicated because of pancreatitis risk; in mild-to-moderate hypertriglyceridaemia, intervention can be indicated to prevent cardiovascular disease, dependent on triglyceride concentration, concomitant lipoprotein disturbances, and overall cardiovascular risk.
Journal review article
Lancet Diabetes and Endocrinology, 2014, Vol 2, Issue 8, p. 655-666