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

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

*Corresponding author af dette arbejde

Publikation: Bidrag til tidsskriftArtikelForskningpeer review

Abstract

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.

OriginalsprogEngelsk
Sider (fra-til)10-16
Antal sider7
TidsskriftAtherosclerosis
Vol/bind373
Tidlig onlinedato9 apr. 2023
DOI
StatusUdgivet - maj 2023

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Copyright © 2023 The Authors. Published by Elsevier B.V. All rights reserved.

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