The familial hypercholesterolaemia phenotype: Monogenic familial hypercholesterolaemia, polygenic hypercholesterolaemia and other causes

Familial hypercholesterolaemia (FH) is a monogenic disorder characterised by high low‐density lipoprotein cholesterol (LDL‐C) concentrations and increased cardiovascular risk. However, in clinically defined FH cohorts worldwide, an FH‐causing variant is only found in 40%‐50% of the cases. The aim of this work was to characterise the genetic cause of the FH phenotype in Portuguese clinical FH patients. Between 1999 and 2017, 731 index patients...