Pediatrics cascade screening in inherited dyslipidemias: a lipoprotein apheresis center experience

Abstract

Familial hypercholesterolemia (FH) is less rare than one might think and, despite highly effective lipid-lowering therapies (LLT), more than half of the patients treated do not reach the lipid target indicated by the guidelines. In these patients, lipoprotein apheresis (LA) is the most effective tool to lowering apo-B containing atherogenic lipoproteins. In own center, since 1994, thanks to routinely cascade testing performed in patients who start LA, we have identified a pediatric population (30 subjects) that we analyzed retrospectively. Cascade screening, performed in subject with premature cardiovascular events or inherited dyslipidemias, is an effective approach to identified pediatric FH, a condition that pediatricians should also be aware. A dedicate network is required to investigate the involved genetic mutations and to set up a management program, including lipoprotein (a) measurement and subclinical atherosclerosis evaluation. Moreover, it is important that medical staff use a therapeutic pathway to help patients overcome discomfort associated with disease and chronic LLT, as well as improve adherence to lipid-lowering drugs.

Keywords: Cascade screening; Familial hypercholesterolemia; Lipid lowering therapies; Lipoprotein apheresis.