Familial Hypercholesterolemia Management Flashcards

LDL apheresis in FH patients removes LDL-C by what approximate percentage per session?

Answer: 60-75%

Each LDL apheresis session acutely reduces LDL-C by approximately 60-75%, though levels rebound between sessions, typically performed every 1-2 weeks.

In an FH patient who is pregnant, which lipid-lowering therapy is considered safest to continue?

Answer: Bile acid sequestrants (resins)

Bile acid sequestrants are not systemically absorbed and are the preferred option during pregnancy; statins, ezetimibe, and PCSK9 inhibitors are contraindicated or data are insufficient.

Which cardiovascular risk assessment tool is most appropriate for FH patients given their lifelong elevated LDL-C exposure?

Answer: Lifetime cardiovascular risk assessment adjusted for LDL burden years

Standard 10-year risk calculators underestimate risk in FH because they do not account for decades of cumulative LDL-C exposure; lifetime risk models or FH-specific tools are more appropriate.

Coronary artery calcium (CAC) scoring in FH patients is useful primarily to:

Answer: Reclassify risk and guide intensity of LDL-lowering therapy

CAC scoring can reclassify FH patients as higher or lower risk within their risk category, helping clinicians decide whether to escalate to PCSK9 inhibitors or apheresis.

The ENHANCE trial studying high-dose simvastatin plus ezetimibe versus simvastatin alone in HeFH patients showed which unexpected result?

Answer: No significant difference in carotid IMT despite additional LDL-C lowering with ezetimibe

ENHANCE found no significant reduction in carotid intima-media thickness progression with ezetimibe add-on therapy despite greater LDL-C lowering, raising questions about surrogate endpoints.

Autosomal recessive hypercholesterolemia (ARH) differs from classic FH in that it is caused by mutations in which gene?

Answer: LDLRAP1

ARH results from loss-of-function mutations in LDLRAP1 (LDL receptor adaptor protein 1), which is required for hepatic but not peripheral tissue LDL receptor internalization.

Which of the following Lp(a) levels is considered markedly elevated and an independent ASCVD risk factor that may prompt more aggressive LDL-C goals in FH patients?

Answer: >50 mg/dL

Lp(a) >50 mg/dL (>125 nmol/L) is considered markedly elevated and an independent cardiovascular risk enhancer per ACC/AHA guidelines.