Familial Hypercholesterolaemia in 2020: A�?Leading Tier 1 Genomic Application.

2019-12-24

Pang, Jing

Sullivan, David R

Brett, Tom

Kostner, Karam M

Hare, David L

Watts, Gerald F

Diagnosis

Familial hypercholesterolaemia

Heart disease

Prevention

Screening

Treatment

Journal Article

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10.1016/j.hlc.2019.12.002

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, diagnosing and treating FH. Recent publications on FH provide new data for developing models of care, including new therapies. This review provides an overview of FH and outlines some recent advances in the care of FH for the prevention of CAD in affected families. The future care of FH in Australia should be developed within the context of the National Health Genomics Policy Framework.

link

Heart, Lung & Circulation 2019; online first: 24 December

Heart, Lung & Circulation