Familial hypercholesterolemia (FH) is often called the “silent accelerant” of cardiovascular risk. From early in life, patients carry LDL-C levels that standard therapy rarely brings to target, resulting in decades of cumulative cholesterol exposure and a significantly elevated risk for premature ASCVD events.
Despite this, FH remains under-recognized—fewer than 1 in 10 patients are ever diagnosed. Missed opportunities for cascade screening and delayed follow-up testing mean many families stay at risk until a major event occurs. Even when FH is identified, achieving LDL-C targets aligned with clinical guidelines remains a challenge.
Clinical data continue to support timely intensification of therapy when conventional approaches fall short. Inhibition of the PCSK9 pathway has been associated with nearly 50% reductions in LDL-C, with added improvements in ApoB and lipoprotein(a). A 2025 meta-analysis showed these effects in both adults and children with FH, reinforcing the importance of early and aggressive intervention in high-risk cases.
Yet real-world care is rarely straightforward. Some patients show a weaker-than-expected response, often linked to missed doses, elevated lipoprotein(a), or genetic variability. Others face barriers tied to access, coverage, or fragmented care, but progress depends on detection, intensification, and follow-up.
How are you identifying FH patients earlier in your practice? When do you escalate therapy—and what has helped sustain LDL-C control long term?
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Lana SimmondsYesterdayScreening is performed by routine lipid monitoring. I initiate therapy for those that have FH. If lipid goals are not achieved after follow up lipid evaluation I add on therapy Show More -
Nancy Squires2dEarly detection and treatment is important to reduce risk of cv events and plaque burden. Multi drug therapy is needed to taken as many mechanisms of LDL cholesterol production. Show More
