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Barriers to Early Diagnosis and Treatment of Familial Hypercholesterolemia: Current Perspectives on Improving Patient Care

Rodrigo Alonso1 Department of Nutrition, Clínica Las Condes, Santiago, Chile;2 Fundación Hipercolesterolemia Familiar, Madrid, Spain

Leopoldo Perez de Isla3 Department of Cardiology, Hospital San Carlos, Madrid, Spain

https://orcid.org/0000-0002-9706-7783

Ovidio Muñiz-Grijalvo4 Internal Medicine Department, Hospital Virgen del Rocío, Sevilla, Spain

Pedro Mata2 Fundación Hipercolesterolemia Familiar, Madrid, SpainCorrespondence[email protected]

Pages 11-25 | Published online: 09 Jan 2020

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O. V. Gaisenok. (2023) Opportunistic screening for familial hypercholesterolemia based on observational registries data analysis. Meditsinskiy sovet = Medical Council:6, pages 22-27.
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V. S. Emelyanchik, S. Yu. Nikulina, E. Yu. Emelyanchik & A. V. Protopopov. (2023) New opportunities for identifying the risk of cardiovascular events in young people: the role of familial hypercholesterolemia. Russian Journal of Cardiology 27:12, pages 5294.
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Ulrich Paetow, Olga Kordonouri & Karl Otfried Schwab. (2022) Vorteile eines universellen frühkindlichen Screenings auf die familiäre Hypercholesterinämie in Deutschland. Klinische Pädiatrie 235:01, pages 5-12.
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Reinhardt Hesse, Frederick J. Raal, Dirk J. Blom & Jaya A. George. (2022) Familial Hypercholesterolemia Identification by Machine Learning Using Lipid Profile Data Performs as Well as Clinical Diagnostic Criteria. Circulation: Genomic and Precision Medicine 15:5.
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Laney K. Jones, Nicole Walters, Andrew Brangan, Catherine D. Ahmed, Katherine A. Wilemon, Gemme Campbell-Salome, Alanna K. Rahm, Samuel S. Gidding & Amy C. Sturm. (2022) Patient experiences align with the familial hypercholesterolemia global call to action. American Journal of Preventive Cardiology 10, pages 100344.
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Alberico L. Catapano, Magdalena Daccord, Elaine Damato, Steve E. Humphries, R. Dermot G. Neely, Børge G. Nordestgaard, Michele Pistollato & Elisabeth Steinhagen-Thiessen. (2022) How should public health recommendations address Lp(a) measurement, a causative risk factor for cardiovascular disease (CVD)?. Atherosclerosis 349, pages 136-143.
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Pãmela Rodrigues de S. Silva, Cinthia E. Jannes, Theo G.M. Oliveira, José E. Krieger, Raul D. Santos & Alexandre C. Pereira. (2022) Pharmacological treatment with lipid-lowering agents after molecular identification of familial hypercholesterolemia: results from the Hipercol Brasil cohort. Journal of Clinical Lipidology 16:2, pages 198-207.
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Oscar Francisco Chacón-Camacho, Glustein Pozo-Molina, Claudia Fabiola Méndez-Catalá, Julia Reyes-Reali, René Méndez-Cruz & Juan Carlos Zenteno. (2022) Familial Hypercholesterolemia: Update and Review. Endocrine, Metabolic & Immune Disorders - Drug Targets 22:2, pages 198-211.
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Shifa Jebari-Benslaiman, Unai Galicia-Garcia, Asier Larrea-Sebal, Kepa B. Uribe, Cesar Martin & Asier Benito-Vicente. 2022. Cholesterol. Cholesterol 501 524 .

Karl Otfried Schwab & Jürgen DoerferKarl Otfried Schwab & Jürgen Doerfer. 2022. Pädiatrische Fettstoffwechselstörungen und Atheroskleroserisiko – kompakt. Pädiatrische Fettstoffwechselstörungen und Atheroskleroserisiko – kompakt 187 215 .

Carly J Allen‐Tice, Rebecca K Tryon & Heather A Zierhut. 2001. eLS. eLS 1 6 .

Jean Ferrières, Victoria Banks, Demetris Pillas, Francesco Giorgianni, Laurene Gantzer, Beranger Lekens, Lea Ricci, Margaux Dova-Boivin, Jean-Vannak Chauny, Guillermo Villa & Gaelle Désaméricq. (2021) Screening and treatment of familial hypercholesterolemia in a French sample of ambulatory care patients: A retrospective longitudinal cohort study. PLOS ONE 16:8, pages e0255345.
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Tom Brett, Dick C Chan, Jan Radford, Clare Heal, Gerard Gill, Charlotte Hespe, Cristian Vargas-Garcia, Carmen Condon, Barbara Sheil, Ian W Li, David R Sullivan, Alistair W Vickery, Jing Pang, Diane E Arnold-Reed & Gerald F Watts. (2021) Improving detection and management of familial hypercholesterolaemia in Australian general practice. Heart 107:15, pages 1213-1219.
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Mariana Suárez Bagnasco. 2021. Management of Dyslipidemia. Management of Dyslipidemia.

Laney K. Jones, Nicole Walters, Andrew Brangan, Catherine D. Ahmed, Michael Gatusky, Gemme Campbell-Salome, Ilene G. Ladd, Amanda Sheldon, Samuel S. Gidding, Mary P. McGowan, Alanna K. Rahm & Amy C. Sturm. (2021) Acceptability, Appropriateness, and Feasibility of Automated Screening Approaches and Family Communication Methods for Identification of Familial Hypercholesterolemia: Stakeholder Engagement Results from the IMPACT-FH Study. Journal of Personalized Medicine 11:6, pages 587.
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Miguel Ángel Sánchez Chaparro & Vicente Pascual Fuster. (2021) Relación entre Atención Primaria y Hospitalaria en la prevención cardiovascular y tratamiento de las dislipidemias. Algoritmo de derivación. Criterios de alta. Clínica e Investigación en Arteriosclerosis 33, pages 65-70.
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Fernando Sabatel-Pérez, Joaquín Sánchez-Prieto, Víctor Manuel Becerra-Muñoz, Juan Horacio Alonso-Briales, Pedro Mata & Luis Rodríguez-Padial. (2021) Improving Familial Hypercholesterolemia Index Case Detection: Sequential Active Screening from Centralized Analytical Data. Journal of Clinical Medicine 10:4, pages 749.
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Norma Alejandra Vázquez-Cárdenas. (2021) Hipercolesterolemia primaria<br> Hipercolesterolemia familiar. Cardiovascular and Metabolic Science 32:S3, pages 153-156.
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Fiona Jane Kinnear, Fiona E Lithander, Aidan Searle, Graham Bayly, Christina Wei, David J Stensel, Alice E Thackray, Linda Hunt & Julian P H Shield. (2020) Reducing cardiovascular disease risk among families with familial hypercholesterolaemia by improving diet and physical activity: a randomised controlled feasibility trial. BMJ Open 10:12, pages e044200.
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Barriers to Early Diagnosis and Treatment of Familial Hypercholesterolemia: Current Perspectives on Improving Patient Care

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