Screening for Potential Familial Hypercholesterolaemia in General Practice: an Observational Study on Prevalence and Management

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Background: Familial hypercholesterolaemia (FH) is a common genetic disorder causing premature cardiovascular disease (CVD). The estimated prevalence of probable or definite FH is 1:200–250 individuals, according to the Dutch Lipid Clinic Network (DLCN) criteria for FH. In Denmark approximately 12% of cases are identified. Aim: To provide knowledge of the prevalence and management of FH in general practice. Design & setting: A collaboration between six general practice clinics and the department of cardiology at Bispebjerg hospital in Denmark. Method: A total of 9652 patient records were screened for hypercholesterolaemia. All patients with a low-density lipoprotein cholesterol (LDL-C) ≥5.0 mmol/l were included in the study population and their records were investigated in order to perform a diagnostic score according to the DLCN criteria. Results: It was found that 2382 individuals had a lipid measurement available, and 236 of those had an LDL-C ≥5.0 mmol/l. In total, 34 individuals were found to have probable or definite FH (DLCN score ≥5). Only three individuals had been diagnosed and treated with lipid-lowering therapy. Of 236 individuals with high LDL-C, only 25 individuals met their treatment target. By excluding patients with signs of secondary hypercholesterolaemia, a subgroup of 115 individuals with potential primary hypercholesterolaemia was established. Among those, 21 individuals were found to have probable or definite FH (1:114 individuals). Conclusion: The study shows that there is a massive lack of recognition of FH in general practice. Despite a measured high LDL-C, the diagnosis is rarely made and only a few patients are treated accordingly. Of the patients undergoing treatment, only a few reached their treatment target.

Original languageEnglish
JournalBJGP Open
Issue number2
Pages (from-to)1-13
Number of pages13
Publication statusPublished - Apr 2021

Bibliographical note

Funding Information:
The authors would like to thank their good colleagues in general practice: GPs Tina Koch, Hanne Hjortkjaer-Petersen, Camilla Brand, and Thomas Drivsholm at the practitioner clinic L?gehuset Noerre Farimagsgade 33, and GP Pernille Stage for their help in collecting data.

Funding Information:
This work was funded by Amgen Inc. (grant reference number: ISS 20159575).

Publisher Copyright:
Copyright © 2020, The Authors

    Research areas

  • cardiovascular diseases, familial hypercholesterolaemia, general practice, lipid lowering therapy, mass screening

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