Familial Hypercholesterolemia Management Flashcards

Universal cholesterol screening in children is recommended at which age to detect FH early?

Answer: Ages 9-11 years

The NHLBI and AAP recommend universal lipid screening between ages 9-11 to identify FH and other dyslipidemia in children before puberty-related lipoprotein changes occur.

What is the primary rationale for initiating statin therapy in children with FH as early as age 8-10?

Answer: To slow the progression of atherosclerosis that begins in childhood in FH

Atherosclerosis begins in early childhood in FH patients; statin therapy initiated by age 8-10 has been shown to reduce carotid IMT progression and improve vascular function.

A patient with HoFH caused by two null LDLR mutations would be expected to have what residual LDL receptor activity?

Answer: 0-2% of normal

Receptor-negative HoFH (two null mutations) results in <2% residual LDL receptor activity, producing the most severe LDL elevation and poorest response to statins.

The mechanism by which evolocumab reduces LDL-C in HeFH patients includes which of the following?

Answer: Binding circulating PCSK9, preventing it from degrading LDL receptors

Evolocumab is a monoclonal antibody that binds PCSK9 in plasma, preventing PCSK9 from binding and targeting LDL receptors for lysosomal degradation, thereby increasing receptor recycling.

Which dietary intervention has the strongest evidence for reducing LDL-C as an adjunct to pharmacotherapy in FH patients?

Answer: Replacing saturated fats with unsaturated fats and reducing dietary cholesterol

Reducing saturated fat intake and replacing it with unsaturated fats, combined with lowering dietary cholesterol, produces the greatest dietary LDL-C reduction in FH patients.

Which statement about FH and secondary prevention is correct?

Answer: FH patients with ASCVD are very-high-risk and should target LDL-C 50% reduction

FH patients with established ASCVD fall into the very-high-risk category per ACC/AHA guidelines, warranting an LDL-C goal of <55 mg/dL and at least 50% reduction from baseline.

Mipomersen, an antisense oligonucleotide approved for HoFH, reduces apoB synthesis by targeting which molecule?

Answer: APOB mRNA in hepatocytes

Mipomersen is an antisense oligonucleotide that hybridizes to APOB-100 mRNA, reducing its translation and thereby decreasing hepatic apoB and LDL production.