Familial Hypercholesterolaemia in 2020: A Leading Tier 1 Genomic Application
Jing Pang, David R Sullivan, Tom Brett, Karam M Kostner, David L Hare, Gerald F Watts
Heart, Lung and Circulation | ELSEVIER SCIENCE INC | Published : 2020
Familial hypercholesterolaemia (FH) is caused by a major genetic defect in the low-density lipoprotein (LDL) clearance pathway. Characterised by LDL-cholesterol elevation from birth, FH confers a significant risk for premature coronary artery disease (CAD) if overlooked and untreated. With risk exposure beginning at birth, early detection and intervention is crucial for the prevention of CAD. Lowering LDL-cholesterol with lifestyle and statin therapy can reduce the risk of CAD. However, most individuals with FH will not reach guideline recommended LDL-cholesterol targets. FH has an estimated prevalence of approximately 1:250 in the community. Multiple strategies are required for screening, d..View full abstract
JP was supported by a Western Australian Health Translation Network (WAHTN) Early Career Fellowship and the Australian Government's Medical Research Future Fund.