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

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

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Standard

Genetic testing increases the likelihood of a diagnosis of familial hypercholesterolaemia among people referred to lipid clinics : Danish national study. / Hedegaard, Berit Storgaard; Bork, Christian Sørensen; Kanstrup, Helle Lynge; Thomsen, Kristian Korsgaard; Heitmann, Merete; Bang, Lia Evi; Henriksen, Finn Lund; Andersen, Lars Juel; Gohr, Thomas; Mouridsen, Mette Rauhe; Soja, Anne Merete Boas; Elpert, Frank Peter; Jakobsen, Tomas Joen; Sjøl, Anette; Joensen, Albert Marni; Nordestgaard, Børge Grønne; Klausen, Ib Christian; Schmidt, Erik Berg.

I: Atherosclerosis, Bind 373, 05.2023, s. 10-16.

Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt

Harvard

Hedegaard, BS, Bork, CS, Kanstrup, HL, Thomsen, KK, Heitmann, M, Bang, LE, Henriksen, FL, Andersen, LJ, Gohr, T, Mouridsen, MR, Soja, AMB, Elpert, FP, Jakobsen, TJ, Sjøl, A, Joensen, AM, Nordestgaard, BG, Klausen, IC & Schmidt, EB 2023, 'Genetic testing increases the likelihood of a diagnosis of familial hypercholesterolaemia among people referred to lipid clinics: Danish national study', Atherosclerosis, bind 373, s. 10-16. https://doi.org/10.1016/j.atherosclerosis.2023.04.003

APA

Hedegaard, B. S., Bork, C. S., Kanstrup, H. L., Thomsen, K. K., Heitmann, M., Bang, L. E., Henriksen, F. L., Andersen, L. J., Gohr, T., Mouridsen, M. R., Soja, A. M. B., Elpert, F. P., Jakobsen, T. J., Sjøl, A., Joensen, A. M., Nordestgaard, B. G., Klausen, I. C., & Schmidt, E. B. (2023). Genetic testing increases the likelihood of a diagnosis of familial hypercholesterolaemia among people referred to lipid clinics: Danish national study. Atherosclerosis, 373, 10-16. https://doi.org/10.1016/j.atherosclerosis.2023.04.003

Vancouver

Hedegaard BS, Bork CS, Kanstrup HL, Thomsen KK, Heitmann M, Bang LE o.a. Genetic testing increases the likelihood of a diagnosis of familial hypercholesterolaemia among people referred to lipid clinics: Danish national study. Atherosclerosis. 2023 maj;373:10-16. https://doi.org/10.1016/j.atherosclerosis.2023.04.003

Author

Hedegaard, Berit Storgaard ; Bork, Christian Sørensen ; Kanstrup, Helle Lynge ; Thomsen, Kristian Korsgaard ; Heitmann, Merete ; Bang, Lia Evi ; Henriksen, Finn Lund ; Andersen, Lars Juel ; Gohr, Thomas ; Mouridsen, Mette Rauhe ; Soja, Anne Merete Boas ; Elpert, Frank Peter ; Jakobsen, Tomas Joen ; Sjøl, Anette ; Joensen, Albert Marni ; Nordestgaard, Børge Grønne ; Klausen, Ib Christian ; Schmidt, Erik Berg. / Genetic testing increases the likelihood of a diagnosis of familial hypercholesterolaemia among people referred to lipid clinics : Danish national study. I: Atherosclerosis. 2023 ; Bind 373. s. 10-16.

Bibtex

@article{5a20c4273b064a91a3ebbbb56a756b5c,

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

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.",

keywords = "Cardiovascular disease, Familial hypercholesterolaemia, Genetic testing, LDL cholesterol, Lipid clinics, Referral criteria",

author = "Hedegaard, {Berit Storgaard} and Bork, {Christian S{\o}rensen} and Kanstrup, {Helle Lynge} and Thomsen, {Kristian Korsgaard} and Merete Heitmann and Bang, {Lia Evi} and Henriksen, {Finn Lund} and Andersen, {Lars Juel} and Thomas Gohr and Mouridsen, {Mette Rauhe} and Soja, {Anne Merete Boas} and Elpert, {Frank Peter} and Jakobsen, {Tomas Joen} and Anette Sj{\o}l and Joensen, {Albert Marni} and Nordestgaard, {B{\o}rge Gr{\o}nne} and Klausen, {Ib Christian} and Schmidt, {Erik Berg}",

note = "Funding Information: This project was supported by NOVARTIS A/S. Publisher Copyright: {\textcopyright} 2023 The Authors",

year = "2023",

month = may,

doi = "10.1016/j.atherosclerosis.2023.04.003",

language = "English",

volume = "373",

pages = "10--16",

journal = "Journal of atherosclerosis research",

issn = "1567-5688",

publisher = "Elsevier Ireland Ltd",

}

RIS

TY - JOUR

T1 - Genetic testing increases the likelihood of a diagnosis of familial hypercholesterolaemia among people referred to lipid clinics

T2 - Danish national study

AU - Hedegaard, Berit Storgaard

AU - Bork, Christian Sørensen

AU - Kanstrup, Helle Lynge

AU - Thomsen, Kristian Korsgaard

AU - Heitmann, Merete

AU - Bang, Lia Evi

AU - Henriksen, Finn Lund

AU - Andersen, Lars Juel

AU - Gohr, Thomas

AU - Mouridsen, Mette Rauhe

AU - Soja, Anne Merete Boas

AU - Elpert, Frank Peter

AU - Jakobsen, Tomas Joen

AU - Sjøl, Anette

AU - Joensen, Albert Marni

AU - Nordestgaard, Børge Grønne

AU - Klausen, Ib Christian

AU - Schmidt, Erik Berg

PY - 2023/5

Y1 - 2023/5

N2 - 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.

AB - 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.

KW - Cardiovascular disease

KW - Familial hypercholesterolaemia

KW - Genetic testing

KW - LDL cholesterol

KW - Lipid clinics

KW - Referral criteria

U2 - 10.1016/j.atherosclerosis.2023.04.003

DO - 10.1016/j.atherosclerosis.2023.04.003

M3 - Journal article

C2 - 37080006

AN - SCOPUS:85152707351

VL - 373

SP - 10

EP - 16

JO - Journal of atherosclerosis research

JF - Journal of atherosclerosis research

SN - 1567-5688

ER -

ID: 373665698