ArticleBMC primary care2026
Healthcare activities before familial hypercholesterolemia diagnosis: a nationwide register-based study in Denmark.
Article in BMC primary care, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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6 authors.
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Abstract
backgroundFamilial hypercholesterolemia is a common yet underdiagnosed genetic disorder that significantly increases the risk of premature atherosclerotic cardiovascular disease. General practitioners could play a central role in early familial hypercholesterolemia identification, yet it remains unclear how frequently these patients engage with primary and secondary care before their diagnosis. Our aim is to investigate healthcare activities in general practice and secondary care for patients with future familial hypercholesterolemia in the five years preceding diagnosis.
methodWe performed a nationwide, register-based cohort study in Denmark using national healthcare registries from 2011 to 2021. We identified 3,185 incident familial hypercholesterolemia patients and 31,850 matched references based on age, sex, calendar time, and general practitioner affiliation. Healthcare activities included general practice consultations, LDL-C testing, lipid-lowering therapy prescriptions, atherosclerosis-related hospitalisations, and secondary care procedures. Poisson regression, yielding incidence rate ratios (IRRs), was used to compare healthcare activity rates over the five years before diagnosis.
resultsFamilial hypercholesterolemia patients had significantly higher consultation rates (IRR 1.6, 95% CI 1.5–1.8 in the year before diagnosis) and more frequent LDL-C testing (IRR 5.2, 95% CI 5.0–5.4). Statin use was consistently elevated. Atherosclerosis-related hospitalisations and coronary procedures increased progressively before familial hypercholesterolemia diagnosis.
conclusionOur study supports the role of general practice as a primary site for familial hypercholesterolemia detection and intervention. The consistently higher activity rates in consultations and diagnostic tests suggest opportunities for earlier identification. Implementing systematic screening tools in primary care may improve timely familial hypercholesterolemia detection, reducing the burden of atherosclerotic cardiovascular disease.
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