Genetic screening for familial hypercholesterolaemia in Hong Kong

Abstract

1. Cascade screening of family members of known index cases is an effective approach to identify new cases of familial hypercholesterolaemia (FH). 2. Family screening is carried out using a combination of plasma lipid profiling and genetic testing. If the causative mutation is unknown or if genetic testing is unavailable, screening can be performed using plasma lipid profiling alone. 3. Over 90% of the FH subjects with a pre-treatment low-density lipoprotein cholesterol level of >8 mmol/L had an identifiable genetic cause. 4. Causative mutations in most FH patients were found in the low-density lipoprotein receptor gene.