To the editor

We read with interest the article by Bobrowska et al¹ describing a primary care provider (PCP)-initiated pathway for familial hypercholesterolemia (FH) detection within the Kordian cardiovascular prevention program. In everyday practice, the greatest unmet need in FH is not whether we can lower the low‑density lipoprotein cholesterol (LDL‑C) level but whether we diagnose FH early enough, often enough, and in a way that reliably triggers treatment escalation and family‑based prevention. In that sense, the authors’ effort to embed FH case‑finding in primary care is exactly the direction emphasized by recent international implementation guidance.²

Two aspects of the report are particularly persuasive from a clinical standpoint. First, the workflow looks feasible: out of 4018 participants, 378 were referred and 125 were clinically eligible for genetic testing.¹ These numbers are concrete enough for clinics and regional planners to estimate specialist capacity needs. Second, among those tested, the yield was high (pathogenic heterozygous variants detected in 45.6%).¹ In our experience, achieving that kind of yield usually means the phenotypic triage was selective and strict, which is reassuring for any program that must ration genetic testing.

To make this pathway readily reproducible outside the Kordian context and to avoid predictable pitfalls during scale‑up, 3 clarifications would substantially strengthen the study. First, it would be helpful to know how native / untreated LDL‑C level was established in practice—whether the values were documented in records, reconstructed from prior laboratory data, or based on patient report—and how baseline LDL‑C level was handled in those already exposed to lipid‑lowering therapy. In real‑world primary care, these are the scenarios that most often drive misclassification. Second, the Kordian cohort, as described, included individuals without prior chronic disease and not taking any medications.¹ That makes sense for a prevention program, but it is not the population most primary care clinicians see when severe hypercholesterolemia raises the question of FH. In routine practice, a markedly elevated LDL‑C level frequently coexists with hypertension, diabetes, chronic kidney disease, or established atherosclerotic cardiovascular disease. These are precisely the patients in whom the consequences of delayed recognition are the greatest. This raises a practical implementation question: does the impressive genetic yield reflect careful enrichment within a “healthier” subgroup, and if so, what would be the trade‑off in missed detection when the same algorithm was applied to typical mixed‑morbidity primary care? Reporting how many otherwise eligible individuals were excluded due to comorbidities and / or medication use (and which categories predominated), together with the main reasons for the volume reduction from referral (n = 378) to clinical eligibility for genetic testing (n = 125), would help understand generalizability and anticipate program performance in usual‑care settings.¹ Third, diagnosis is only the beginning. The clinical value of PCP‑initiated FH identification depends on whether it predictably changes management and reaches relatives. Evidence from contemporary cohorts suggests that cascade‑oriented strategies can be associated with earlier statin initiation and fewer cardiovascular events, as compared with opportunistic approaches.³ From an implementation perspective, uptake of cascade genetic testing (not initial case‑finding) is often where programs encounter delays. Even limited early follow‑up data (or a prespecified plan for subsequent reporting) on downstream indicators would greatly increase the translational importance of the work: the proportion started on or intensified to high‑intensity lipid‑lowering therapy (and combination therapy when indicated), achieved LDL‑C level reduction at follow‑up (eg, 3–12 months), and cascade testing uptake expressed as the number of relatives contacted / tested / diagnosed per proband.^2,3 As a related point, residual risk in high‑risk settings continues to matter clinically, which only reinforces the case for preventing prolonged lifetime exposure to high LDL‑C levels across families—an argument that feels particularly relevant in the context of a country‑level prevention strategy.⁴

Bobrowska et al¹ presented a timely Polish primary care pathway for FH identification with a notably high genetic yield, supporting the feasibility of structured phenotypic triage linked to genetic confirmation. Documenting exclusions and attrition transparently, and adding downstream treatment and cascade metrics would strengthen internal validity, improve external applicability, and make the pathway far easier to replicate across regions. We would welcome the authors’ response, because the Kordian experience has clear potential to inform a scalable national strategy for reducing the FH detection gap in Poland.