Cardiology

Session # 228

Know FH: Mutation Spectrum and Utilization of Cascade Testing for Familial Hypercholesterolemia. 

Hypercholesterolemia is characterized by high levels of plasma low density lipoprotein (LDL) in the blood and an increased risk for coronary artery disease (CAD). Familial hypercholesterolemia (FH) caused by mutations in the LDLR, APOB, and PCSK9 genes significantly increases risk for CAD and secondary comorbidities. It is estimated that up to 1/200 individuals have one LDLR mutation, and subclinical borderline cases may be missed leading to silent disease that goes undetected. Genetic testing can inform management and prognosis for both an affected proband and atrisk family members, and may be used to supplement biochemical screening during annual health checkups; however, it has been largely under-utilized in clinical practice. This report serves to describe the spectrum of FH mutations identified and utilization of cascade testing in at risk relatives at a clinical diagnostic laboratory.

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