Genetic testing increases the likelihood of a diagnosis of familial hypercholesterolaemia among people referred to lipid clinics: Danish national study

Research output: Contribution to journalJournal articleResearchpeer-review


  • Fulltext

    Final published version, 805 KB, PDF document

  • Berit Storgaard Hedegaard
  • Christian Sørensen Bork
  • Helle Lynge Kanstrup
  • Kristian Korsgaard Thomsen
  • Heitmann, Merete
  • Lia Evi Bang
  • Finn Lund Henriksen
  • Lars Juel Andersen
  • Thomas Gohr
  • Mette Rauhe Mouridsen
  • Soja, Anne Merete Boas
  • Frank Peter Elpert
  • Tomas Joen Jakobsen
  • Anette Sjøl
  • Albert Marni Joensen
  • Nordestgaard, Børge
  • Ib Christian Klausen
  • Erik Berg Schmidt

Background and aims: It is unclear to what extent genetic testing improves the ability to diagnose familial hypercholesterolaemia (FH). We investigated the percentage with FH among individuals referred to Danish lipid clinics, and evaluated the impact of genetic testing for a diagnosis of FH. Methods: From September 2020 through November 2021, all patients referred for possible FH to one of the 15 Danish lipid clinics were invited for study participation and >97% (n = 1488) accepted. The Dutch Lipid Clinical Network criteria were used to diagnose clinical FH. The decision of genetic testing for FH was based on local practice. Results: A total of 1243 individuals were referred, of whom 25.9% were diagnosed with genetic and/or clinical FH. In individuals genetically tested (n = 705), 21.7% had probable or definite clinical FH before testing, a percentage that increased to 36.9% after genetic testing. In individuals with unlikely and possible FH before genetic testing, 24.4% and 19.0%, respectively, had a causative pathogenic variant. Conclusions: In a Danish nationwide study, genetic testing increased a diagnosis of FH from 22% to 37% in patients referred with hypercholesterolaemia suspected of having FH. Importantly, approximately 20% with unlikely or possible FH, who without genetic testing would not have been considered having FH (and family screening would not have been undertaken), had a pathogenic FH variant. We therefore recommend a more widespread use of genetic testing for evaluation of a possible FH diagnosis and potential cascade screening.

Original languageEnglish
Pages (from-to)10-16
Number of pages7
Publication statusPublished - May 2023

Bibliographical note

Funding Information:
This project was supported by NOVARTIS A/S.

Publisher Copyright:
© 2023 The Authors

    Research areas

  • Cardiovascular disease, Familial hypercholesterolaemia, Genetic testing, LDL cholesterol, Lipid clinics, Referral criteria

ID: 373665698