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Background <p>Familial 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.</p> <p>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.</p> Method <p>We 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.</p> Results <p>Familial 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.</p> Conclusion <p>Our 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.</p> Trial registration <p>Not relevant.</p>

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Healthcare activities before familial hypercholesterolemia diagnosis: a nationwide register-based study in Denmark

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2026年3月6日

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  • Simon Graff,
  • Kirsten Høj,
  • Bo Christensen,
  • Flemming Bro,
  • Helle Lynge Kanstrup,
  • Henrik Schou Pedersen

摘要

Background

Familial 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.

Method

We 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.

Results

Familial 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.

Conclusion

Our 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.

Trial registration

Not relevant.