A strategy to increase identification of patients with Familial Hypercholesterolemia: Application of the Simon Broome lipid criteria in a large-scale retrospective analysis
Introduction: Familial Hypercholesterolemia (FH) is a primarily autosomal dominant condition characterized by markedly elevated low-density lipoprotein-cholesterol (LDL-c) and an increased risk of atherosclerosis and cardiovascular disease (CVD). Though early identification and treatment are crucial...
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Elsevier
2025-03-01
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| Series: | American Journal of Preventive Cardiology |
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| Online Access: | http://www.sciencedirect.com/science/article/pii/S2666667725000030 |
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| author | James K. Fleming Renee M. Sullivan David Alfego Natalia T. Leach Tamara J. Richman Jill Rafalko |
| author_facet | James K. Fleming Renee M. Sullivan David Alfego Natalia T. Leach Tamara J. Richman Jill Rafalko |
| author_sort | James K. Fleming |
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| description | Introduction: Familial Hypercholesterolemia (FH) is a primarily autosomal dominant condition characterized by markedly elevated low-density lipoprotein-cholesterol (LDL-c) and an increased risk of atherosclerosis and cardiovascular disease (CVD). Though early identification and treatment are crucial to optimizing outcomes, few laboratory strategies exist to detect FH. Methods: All lipid tests for total cholesterol (TC) and LDL-c ordered through a large nation-wide network of medical laboratories in the United States (US) from 2018 - 2022 were retrospectively evaluated using a decision tree algorithm based on Simon Broome lipid criteria. If thresholds were met, results were classified as “possible FH” or as “no lipid evidence of FH” if not met. Results: The review of 121,141,307 lipid panels and associated genetic tests from 58,400,105 patients resulted in 1,843,966 (3.2 %) that were classified as “possible FH”. Overall, the mean TC was higher in females than males, particularly in those ≥16 years. LDL-c in the “no lipid evidence of FH” cohort increased year-over-year; LDL-c was stable or decreased in the “possible FH” cohort. Despite the large number of patients classified with “possible FH”, very few (0.02 %) matched patients had genetic testing. Conclusion: A laboratory-developed algorithm using Simon Broome lipid criteria can help identify patients who may benefit from additional FH evaluation. While critical, testing hyperlipidemic children for FH is grossly underutilized, as is genetic testing for FH. Diagnostic laboratories are uniquely positioned to bring FH to the attention of clinicians, with the goal of earlier diagnosis, cascade testing, and appropriate treatment. |
| format | Article |
| id | doaj-art-c2aab42a640c46a79046a0545b1cbba0 |
| institution | Kabale University |
| issn | 2666-6677 |
| language | English |
| publishDate | 2025-03-01 |
| publisher | Elsevier |
| record_format | Article |
| series | American Journal of Preventive Cardiology |
| spelling | doaj-art-c2aab42a640c46a79046a0545b1cbba02025-01-19T06:26:45ZengElsevierAmerican Journal of Preventive Cardiology2666-66772025-03-0121100930A strategy to increase identification of patients with Familial Hypercholesterolemia: Application of the Simon Broome lipid criteria in a large-scale retrospective analysisJames K. Fleming0Renee M. Sullivan1David Alfego2Natalia T. Leach3Tamara J. Richman4Jill Rafalko5Office of the Chief Scientific Officer, Labcorp, 4374 Nire Valley Drive, Burlington, NC 27215, United States; Corresponding author.Department of Science and Technology, Labcorp, United StatesCenter of Excellence for Data Science, AI and Bioinformatics, Labcorp, United StatesMolecular Genetics and Cytogenetics, Women's Health and Genetics, Labcorp, United StatesStrategic Initiatives Management, Office of the Chief Scientific Officer, Labcorp, United StatesOffice of the Chief Scientific Officer, Labcorp, 4374 Nire Valley Drive, Burlington, NC 27215, United StatesIntroduction: Familial Hypercholesterolemia (FH) is a primarily autosomal dominant condition characterized by markedly elevated low-density lipoprotein-cholesterol (LDL-c) and an increased risk of atherosclerosis and cardiovascular disease (CVD). Though early identification and treatment are crucial to optimizing outcomes, few laboratory strategies exist to detect FH. Methods: All lipid tests for total cholesterol (TC) and LDL-c ordered through a large nation-wide network of medical laboratories in the United States (US) from 2018 - 2022 were retrospectively evaluated using a decision tree algorithm based on Simon Broome lipid criteria. If thresholds were met, results were classified as “possible FH” or as “no lipid evidence of FH” if not met. Results: The review of 121,141,307 lipid panels and associated genetic tests from 58,400,105 patients resulted in 1,843,966 (3.2 %) that were classified as “possible FH”. Overall, the mean TC was higher in females than males, particularly in those ≥16 years. LDL-c in the “no lipid evidence of FH” cohort increased year-over-year; LDL-c was stable or decreased in the “possible FH” cohort. Despite the large number of patients classified with “possible FH”, very few (0.02 %) matched patients had genetic testing. Conclusion: A laboratory-developed algorithm using Simon Broome lipid criteria can help identify patients who may benefit from additional FH evaluation. While critical, testing hyperlipidemic children for FH is grossly underutilized, as is genetic testing for FH. Diagnostic laboratories are uniquely positioned to bring FH to the attention of clinicians, with the goal of earlier diagnosis, cascade testing, and appropriate treatment.http://www.sciencedirect.com/science/article/pii/S2666667725000030HypercholesterolemiaCholesterolLow density lipoproteinsGenetic testingAlgorithmsCardiovascular risk factors |
| spellingShingle | James K. Fleming Renee M. Sullivan David Alfego Natalia T. Leach Tamara J. Richman Jill Rafalko A strategy to increase identification of patients with Familial Hypercholesterolemia: Application of the Simon Broome lipid criteria in a large-scale retrospective analysis American Journal of Preventive Cardiology Hypercholesterolemia Cholesterol Low density lipoproteins Genetic testing Algorithms Cardiovascular risk factors |
| title | A strategy to increase identification of patients with Familial Hypercholesterolemia: Application of the Simon Broome lipid criteria in a large-scale retrospective analysis |
| title_full | A strategy to increase identification of patients with Familial Hypercholesterolemia: Application of the Simon Broome lipid criteria in a large-scale retrospective analysis |
| title_fullStr | A strategy to increase identification of patients with Familial Hypercholesterolemia: Application of the Simon Broome lipid criteria in a large-scale retrospective analysis |
| title_full_unstemmed | A strategy to increase identification of patients with Familial Hypercholesterolemia: Application of the Simon Broome lipid criteria in a large-scale retrospective analysis |
| title_short | A strategy to increase identification of patients with Familial Hypercholesterolemia: Application of the Simon Broome lipid criteria in a large-scale retrospective analysis |
| title_sort | strategy to increase identification of patients with familial hypercholesterolemia application of the simon broome lipid criteria in a large scale retrospective analysis |
| topic | Hypercholesterolemia Cholesterol Low density lipoproteins Genetic testing Algorithms Cardiovascular risk factors |
| url | http://www.sciencedirect.com/science/article/pii/S2666667725000030 |
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