Improving Familial Hypercholesterolemia Index Case Detection: Sequential Active Screening from Centralized Analytical Data
The majority of familial hypercholesterolemia index cases (FH-IC) remain underdiagnosed and undertreated because there are no well-defined strategies for the universal detection of FH. The aim of this study was to evaluate the diagnostic yield of an active screening for FH-IC based on centralized an...
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| Format: | Article |
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MDPI AG
2021-02-01
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| Series: | Journal of Clinical Medicine |
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| Online Access: | https://www.mdpi.com/2077-0383/10/4/749 |
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| author | Fernando Sabatel-Pérez Joaquín Sánchez-Prieto Víctor Manuel Becerra-Muñoz Juan Horacio Alonso-Briales Pedro Mata Luis Rodríguez-Padial |
| author_facet | Fernando Sabatel-Pérez Joaquín Sánchez-Prieto Víctor Manuel Becerra-Muñoz Juan Horacio Alonso-Briales Pedro Mata Luis Rodríguez-Padial |
| author_sort | Fernando Sabatel-Pérez |
| collection | DOAJ |
| description | The majority of familial hypercholesterolemia index cases (FH-IC) remain underdiagnosed and undertreated because there are no well-defined strategies for the universal detection of FH. The aim of this study was to evaluate the diagnostic yield of an active screening for FH-IC based on centralized analytical data. From 2016 to 2019, a clinical screening of FH was performed on 469 subjects with severe hypercholesterolemia (low-density lipoprotein cholesterol ≥220 mg/dL), applying the Dutch Lipid Clinic Network (DLCN) criteria. All patients with a DLCN ≥ 6 were genetically tested, as were 10 patients with a DLCN of 3–5 points to compare the diagnostic yield between the two groups. FH was genetically confirmed in 57 of the 84 patients with DLCN ≥ 6, with a genetic diagnosis rate of 67.9% and an overall prevalence of 12.2% (95% confidence interval: 9.3% to 15.5%). Before inclusion in the study, only 36.8% (<i>n</i> = 21) of the patients with the FH mutation had been clinically diagnosed with FH; after genetic screening, FH detection increased 2.3-fold (<i>p</i> < 0.001). The sequential, active screening strategy for FH-IC increases the diagnostic yield for FH with a rational use of the available resources, which may facilitate the implementation of FH universal and family-based cascade screening strategies. |
| first_indexed | 2024-03-09T00:54:35Z |
| format | Article |
| id | doaj.art-81622a5b02d7441095cf3b89a453036c |
| institution | Directory Open Access Journal |
| issn | 2077-0383 |
| language | English |
| last_indexed | 2024-03-09T00:54:35Z |
| publishDate | 2021-02-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Journal of Clinical Medicine |
| spelling | doaj.art-81622a5b02d7441095cf3b89a453036c2023-12-11T16:58:07ZengMDPI AGJournal of Clinical Medicine2077-03832021-02-0110474910.3390/jcm10040749Improving Familial Hypercholesterolemia Index Case Detection: Sequential Active Screening from Centralized Analytical DataFernando Sabatel-Pérez0Joaquín Sánchez-Prieto1Víctor Manuel Becerra-Muñoz2Juan Horacio Alonso-Briales3Pedro Mata4Luis Rodríguez-Padial5Department of Cardiology, Complejo Hospitalario Universitario de Toledo, 45004 Toledo, SpainDepartment of Cardiology, Complejo Hospitalario Universitario de Toledo, 45004 Toledo, SpainUnidad de Gestión Clínica Área del Corazón, Instituto de Investigación Biomédica de Málaga (IBIMA), Hospital Universitario Virgen de la Victoria de Málaga, Universidad de Málaga (UMA), Centro de Investigación Biomédica en Red de Enfermedades Cardiovasculares (CIBERCV), 29010 Málaga, SpainUnidad de Gestión Clínica Área del Corazón, Instituto de Investigación Biomédica de Málaga (IBIMA), Hospital Universitario Virgen de la Victoria de Málaga, Universidad de Málaga (UMA), Centro de Investigación Biomédica en Red de Enfermedades Cardiovasculares (CIBERCV), 29010 Málaga, SpainFundación Hipercolesterolemia Familiar, 28010 Madrid, SpainDepartment of Cardiology, Complejo Hospitalario Universitario de Toledo, 45004 Toledo, SpainThe majority of familial hypercholesterolemia index cases (FH-IC) remain underdiagnosed and undertreated because there are no well-defined strategies for the universal detection of FH. The aim of this study was to evaluate the diagnostic yield of an active screening for FH-IC based on centralized analytical data. From 2016 to 2019, a clinical screening of FH was performed on 469 subjects with severe hypercholesterolemia (low-density lipoprotein cholesterol ≥220 mg/dL), applying the Dutch Lipid Clinic Network (DLCN) criteria. All patients with a DLCN ≥ 6 were genetically tested, as were 10 patients with a DLCN of 3–5 points to compare the diagnostic yield between the two groups. FH was genetically confirmed in 57 of the 84 patients with DLCN ≥ 6, with a genetic diagnosis rate of 67.9% and an overall prevalence of 12.2% (95% confidence interval: 9.3% to 15.5%). Before inclusion in the study, only 36.8% (<i>n</i> = 21) of the patients with the FH mutation had been clinically diagnosed with FH; after genetic screening, FH detection increased 2.3-fold (<i>p</i> < 0.001). The sequential, active screening strategy for FH-IC increases the diagnostic yield for FH with a rational use of the available resources, which may facilitate the implementation of FH universal and family-based cascade screening strategies.https://www.mdpi.com/2077-0383/10/4/749familial hypercholesterolemiagenetic screeningatherosclerosis preventionearly detection |
| spellingShingle | Fernando Sabatel-Pérez Joaquín Sánchez-Prieto Víctor Manuel Becerra-Muñoz Juan Horacio Alonso-Briales Pedro Mata Luis Rodríguez-Padial Improving Familial Hypercholesterolemia Index Case Detection: Sequential Active Screening from Centralized Analytical Data Journal of Clinical Medicine familial hypercholesterolemia genetic screening atherosclerosis prevention early detection |
| title | Improving Familial Hypercholesterolemia Index Case Detection: Sequential Active Screening from Centralized Analytical Data |
| title_full | Improving Familial Hypercholesterolemia Index Case Detection: Sequential Active Screening from Centralized Analytical Data |
| title_fullStr | Improving Familial Hypercholesterolemia Index Case Detection: Sequential Active Screening from Centralized Analytical Data |
| title_full_unstemmed | Improving Familial Hypercholesterolemia Index Case Detection: Sequential Active Screening from Centralized Analytical Data |
| title_short | Improving Familial Hypercholesterolemia Index Case Detection: Sequential Active Screening from Centralized Analytical Data |
| title_sort | improving familial hypercholesterolemia index case detection sequential active screening from centralized analytical data |
| topic | familial hypercholesterolemia genetic screening atherosclerosis prevention early detection |
| url | https://www.mdpi.com/2077-0383/10/4/749 |
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