Study of rare familial monogenic dyslipidemias in Portugal

Abstract

Dyslipidaemia is a disorder of lipid metabolism, characterized by either an increase or decrease in lipid particles, usually associated with triglycerides (TGs), LDL cholesterol (LDL-C) or HDL cholesterol (HDL-C). Most hyperlipidemia and HDL deficiency confer an increased cardiovascular risk while hypolipidemia, such as abeta or hypobetalipoproteinemia, may present different manifestations ranging from poor weight progression to neurological manifestations. From 2009, the Cardiovascular Investigation Group has been studying rare dyslipidaemias since there were no studies about these disorders in our country. In the context of this study, several index cases and family members with clinical diagnosis of different rare monogenic dyslipidemias or other pathologies in which dyslipidemia is the clinical factor that triggers the need for a genetic diagnosis, have been referred to our lab. The aim of this study is to review all cases with rare dyslipidaemia, either already studied or ongoing in our laboratory.