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2. Comprehensive management of risk factors in peripheral vascular disease. Expert consensus

Author

Pilar Caridad Morata Barrado, Carlos Guijarro Herraiz, Jorge Jesús Martín Cañuelo, J.F. Merino-Torres, Cristina Tejera Pérez, María Ángeles Martínez López, Teresa Rama Martínez, Sergio Cinza-Sanjurjo, Mª Dolores Aicart Bort, C. Brotons, Vicente Pascual Fuster, Emilio Ortega, Tomás Ripoll Vera, Carmen Peinado Adiego, Alberto Cordero, Carlos Jericó Alba, Luis Castilla-Guerra, Francisco Valls-Roca, Pablo Antonio Toledo Frías, Rosa María Sánchez-Hernández, Antonio Pérez Pérez, Ángel Brea Hernando, Juan Girbés Borrás, Miguel Ángel Prieto Díaz, J.M. Mostaza, María Soledad Navas de Solís, Elisa Velasco Valdazo, Estíbaliz Jarauta Simón, Juan Carlos Ferrer García, José Manuel Ruiz Palomar, Francisco M. Morales-Pérez, Julio Sánchez Álvarez, Javier de Juan Bagudá, Núria Muñoz Rivas, Elías Delgado, Manuel Frías Vargas, Ovidio Muñiz Grijalvo, Esther Doiz Artázcoz, Pedro Valdivielso, Adriana Saltijeral Cerezo, Rebeca Reyes García, Manuel Rodríguez Piñero, Beatriz Jiménez Muñoz, Luis Leiva Hernando, Enrique Rodilla Sala, Alfonso Barquilla García, Jose Daniel Mosquera Lozano, Carlos Santos Altozano, Antonio Miguel Hernández Martínez, Alejandro Berenguel Senén, Manuel Gargallo Fernández, María Gloria Cánovas Molina, Julio Antonio Carbayo Herencia, Ignacio Párraga Martínez, Elena Iborra Ortega, Aurora García Lerín, Vicente Ignacio Arrarte Esteban, Vivencio Barrios, Jose Polo García, Manuel Antonio Botana López, Ruth Sánchez Ortiga, Manuel Suárez Tembra, Miguel Brito Banfiel, Ángel Carlos Matía Cubillo, José María Cepeda Rodrigo, Daniel Escribano Pardo, P. Beato, M. Comellas, Inés Gil Gil, R. Campuzano, Martín Ruiz Ortiz, Víctor Rodríguez Sáenz de Buruaga, Agustín Blanco Echevarría, Rosario Lorente Calvo, José Manuel Comas Samper, Sergio Hevia, Natalia de la Fuente, Juan Cosin Sales, Rafael Vidal-Pérez, Virginia Bellido Castañeda, N. Plana, Amelia Carro, Carlos Lahoz, Magdalena León Mazorra, Sergio Martínez Hervas, Maria Seoane Vicente, Melina Vega de Ceniga, M. Antonia Pérez Lázaro, Sergio Jansen Chaparro, Antonio Ruiz García, Isabel Ayala Vigueras, Miren Morillas Bueno, Esther Merino Lanza, Andrés Galarza Tapia, Marta Casañas Martínez, Daiana Ibarretxe Gerediaga, María Durán Martínez, José Antonio Rubio, Óscar Moreno-Pérez, Andrés García León, Luis Estallo Laliena, Eduardo Carrasco Carrasco, Vicente Pallarés-Carratalá, Alberto Zamora Cervantes, Javier Escalada, Juan Carlos Obaya Rebollar, Mercedes Guerra Requena, José Antonio Quindimil Vázquez, Pedro J. Pinés Corrales, Carlos Escobar Cervantes, Lisardo García-Martín, Albert Clarà, Jose María Fernández Rodriguez-Lacin, Miguel Turégano Yedro, Francisco Javier Félix Redondo, Luis Masmiquel, Jacinto Fernández Pardo, Laura Calsina Juscafresa, María Eugenia López Valverde, Eva María Pereira López, Fátima Almagro Múgica, and Agustín Medina Falcón

Subjects
medicine.medical_specialty, Consensus, Vascular disease, business.industry, Arterial disease, Delphi method, Expert consensus, General Medicine, Disease, medicine.disease, Quit smoking, Peripheral Arterial Disease, Risk Factors, Multidisciplinary approach, Diabetes Mellitus, medicine, Humans, Ankle Brachial Index, Medical prescription, Intensive care medicine, business
Abstract

There is currently a degree of divergence among the main clinical practice guidelines on the management of risk factors for peripheral arterial disease (PAD). This project aims to gain understanding of the management of PAD risk factors in clinical practice and to reach a multidisciplinary consensus on the strategies to be followed in order to optimize its identification, treatment, and follow-up.A multidisciplinary consensus following the Delphi methodology.Professionals (n = 130) with extensive experience in PAD participated in this consultation. The results suggest that in order to optimize the control of risk factors, efforts should be aimed at: (1) promoting the involvement and awareness of all specialists in the identification of and screening for the disease; (2) guaranteeing the possibility of evaluating the ankle-brachial index (ABI) in all the medical specialties involved; (3) promoting strategies for patients to quit smoking through the use of drugs, programs, or referrals to specialized units; (4) promoting an appropriate Mediterranean-based diet and the prescription of daily exercise; (5) raising awareness of the importance of ensuring LDL cholesterol values below 70 mg/dL, especially in symptomatic but also in asymptomatic patients (55 mg/dL following the publication of the ESC/EAS guide); (6) recommending the use of antiplatelet therapy in asymptomatic patients with diabetes mellitus (DM) and/or a pathological ABI; and (7) protocolizing the annual evaluation of ABI in high-risk patients.This document presents the 22 agreed-upon strategies which are intended to help professionals optimize multidisciplinary management of PAD risk factors.

Published
2022

3. The Added Value of Coronary Calcium Score in Predicting Cardiovascular Events in Familial Hypercholesterolemia

Author

Antonio Gallo, Leopoldo Pérez de Isla, Sybil Charrière, Alexandre Vimont, Rodrigo Alonso, Ovidio Muñiz-Grijalvo, José L. Díaz-Díaz, Daniel Zambón, Philippe Moulin, Eric Bruckert, Pedro Mata, Sophie Béliard, Denis Angoulvant, Sophie Beliard, Franck Boccara, Bertrand Cariou, Valérie Carreau, Alain Carrie, Sybil Charrieres, Yves Cottin, Mathilde Di Filippo, Pierre Henri Ducluzeau, Sonia Dulong, Vincent Durlach, Michel Farnier, Emile Ferrari, Dorota Ferrieres, Jean Ferrieres, Philippe Giral, Sophie Gonbert, Regis Hankard, Jocelyn Inamo, Olga Kalmykova, Michel Krempf, Julie Lemale, François Paillard, Noel Peretti, Agnes Perrin, Alain Pradignac, Jean Pierre Rabes, Vincent Rigalleau, François Schiele, Ariane Sultan, Patrick Tounian, René Valero, Bruno Verges, Cecile Yelnik, Olivier Ziegler, Rocío Aguado, Ma Pilar Álvarez-Baños, Rosa Argüeso, Francisco Arrieta, Miguel Ángel Barba, Marta Casañas, José María Cepeda, Raimundo De Andrés, Gonzalo Díaz-Soto, Jose Luis Díaz-Diaz, Marta Dieguez, Ceferino Faedo, Francisco Fuentes, Juan A. Garrido, Aurora González, Pablo González-Bustos, Ma Dolores Mañas, Marta Mauri, Juan Diego Mediavilla, Alfredo Michán, Pablo Miramontes, Ovidio Muñiz, Leire Pérez, Leopoldo Perez De Isla, Xavier Pintó, Manuel J. Romero, Patricia Rubio, Juan F. Sánchez Muñoz-Torrero, Jose I. Vidal-Pardo, Physiologie & médecine expérimentale du Cœur et des Muscles [U 1046] (PhyMedExp), Université de Montpellier (UM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Laboratoire d'Imagerie Biomédicale (LIB), Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Instituto de Investigación Sanitaria del Hospital Clínico San Carlos [Madrid, Spain] (IdISSC), Universidad Complutense de Madrid = Complutense University of Madrid [Madrid] (UCM), Cardiovasculaire, métabolisme, diabétologie et nutrition (CarMeN), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Hospices Civils de Lyon (HCL)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Public Health Expertise [Paris, France], Hospital Universitario Virgen del Rocío [Sevilla], Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Universitat de Barcelona (UB), Centre recherche en CardioVasculaire et Nutrition = Center for CardioVascular and Nutrition research (C2VN), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Hôpital de la Conception [CHU - APHM] (LA CONCEPTION), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Laboratoire d'Imagerie Biomédicale [Paris] (LIB), Unité de Recherche sur les Maladies Cardiovasculaires, du Métabolisme et de la Nutrition = Research Unit on Cardiovascular and Metabolic Diseases (ICAN), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Institut de Cardiométabolisme et Nutrition = Institute of Cardiometabolism and Nutrition [CHU Pitié Salpêtrière] (IHU ICAN), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-CHU Pitié-Salpêtrière [AP-HP], Hospital Abente y Lago, Fundación Hipercolesterolemia Familiar, and ANR-16-RHUS-0007,CHOPIN,CHOPIN(2016)

Subjects
Adult, Male, medicine.medical_specialty, [SDV]Life Sciences [q-bio], Coronary Artery Disease, Disease, Familial hypercholesterolemia, 030204 cardiovascular system & hematology, Risk Assessment, Sudden death, Cohort Studies, Hyperlipoproteinemia Type II, risk prediction, 03 medical and health sciences, 0302 clinical medicine, cardiovascular disease, genetic disease, Predictive Value of Tests, Risk Factors, Interquartile range, Internal medicine, Humans, Medicine, Radiology, Nuclear Medicine and imaging, 030212 general & internal medicine, Vascular Calcification, Stroke, coronary artery calcium, ComputingMilieux_MISCELLANEOUS, familial hypercholesterolemia, business.industry, Proportional hazards model, nutritional and metabolic diseases, Middle Aged, Atherosclerosis, medicine.disease, 3. Good health, Coronary Calcium Score, Cardiology, Calcium, Cardiology and Cardiovascular Medicine, business, coronary imaging, Cohort study
Abstract

International audience; ObjectivesThis study aimed at investigating the additional contribution of coronary artery calcium (CAC) score to SAFEHEART (Spanish Familial Hypercholesterolemia Cohort Study) risk equation (SAFEHEART-RE) for cardiovascular risk prediction in heterozygous familial hypercholesterolemia (HeFH).BackgroundCommon cardiovascular risk equations are imprecise for HeFH. Because of the high phenotype variability of HeFH, CAC score could help to better stratify the risk of atherosclerotic cardiovascular disease (ASCVD).MethodsREFERCHOL (French Registry of Familial Hypercholesterolemia) and SAFEHEART are 2 ongoing national registries on HeFH. We analyzed data from primary prevention HeFH patients undergoing CAC quantification. We used probability-weighted Cox proportional hazards models to estimate HRs. Area under the receiver-operating characteristic curve (AUC) and net reclassification improvement (NRI) were used to compare the incremental contribution of CAC score when added to the SAFEHEART-RE for ASCVD prediction. ASCVD was defined as coronary heart disease, stroke or transient ischemic attack, peripheral artery disease, resuscitated sudden death, and cardiovascular death.ResultsWe included 1,624 patients (mean age: 48.5 ± 12.8 years; men: 45.7%) from both registries. After a median follow-up of 2.7 years (interquartile range: 0.4-5.0 years), ASCVD occurred in 81 subjects. The presence of a CAC score of >100 was associated with an HR of 32.05 (95% CI: 10.08-101.94) of developing ASCVD as compared to a CAC score of 0. Receiving-operating curve analysis showed a good performance of CAC score alone in ASCVD prediction (AUC: 0.860 [95% CI: 0.853-0.869]). The addition of log(CAC + 1) to SAFEHEART-RE resulted in a significantly improved prediction of ASCVD (AUC: 0.884 [95% CI: 0.871-0.894] for SAFEHEART-RE + log(CAC + 1) vs AUC: 0.793 [95% CI: 0.779-0.818] for SAFEHEART-RE; P < 0.001). These results were confirmed also when considering only hard cardiovascular endpoints. The addition of CAC score was associated with an estimated overall net reclassification improvement of 45.4%.ConclusionsCAC score proved its use in improving cardiovascular risk stratification and ASCVD prediction in statin-treated HeFH.

Published
2021

4. Implantación de un programa de cribado bioquímico y genético de hipercolesterolemia familiar. Colaboración entre el laboratorio clínico y las unidades de lípidos: diseño del Proyecto ARIAN

Author

Teresa Arrobas Velilla, Ángel Brea, Pedro Valdivielso, Begoña Gallardo Alguacil, Ramon Pérez Temprano, Mar Martínez Quesada, Miguel Ángel Rico, Lourdes Diez Herrán, Ovidio Muñiz Grijalbo, Purificación García Yun, Francisca Jiménez-Mena Villar, Francisco Morales Pérez, Olga González Albarrán, Mercedes Herranz Puebla, Carolina Puertas Robles, Silvia Campos Anguila, Joan Lima Ruiz, Armando Raúl Guerra Ruiz, José Luis Hernández Hernández, José Vicente García Lario, Pablo González Busto, Fernando Rodríguez Alemán, María Mar Águila García, Fernando Jaén Ávila, Goitzane Marcaida Benito, Juan José Tamarit Gracia, Cristina Gómez Cobos, Juan Ramón Urgeles Planella, Luis Irigoyen Cucalón, José Antonio Gimeno Orna, José Ruiz Budría, Ignacio Vázquez Rico, Jessica Roa Garrido, Enrique Ruiz Pérez, María Maravi Álvarez, Laura de la Maza Pereg, María Victoria Poncela García, María Martin Palencia, David Peñalver Talavera, Montaña Jiménez Álvaro, Marco Puma Duque, Almudena Vigil Rodríguez, Juan Manuel Fernández Alonso, José Alfredo Martin Armas, Magdalena León Mazorra, Casimira Domínguez Cabrera, Lidia Esther Ruiz Gracia, José Puzo Foncillas, Xavier Pintó Sala, María José Castro Castro, Fernando Civeira Murillo, Pilar Calmarza, Rosa Sánchez Hernández, Marta Riaño Ruiz, Camino García García-Lescun, María Almudena Amor, Eduardo Alegría, Cristina Soler Ferrer, Mercé Montesino Costa, Antonio Rus, and Marta Casañas

Subjects
Screening programme, 03 medical and health sciences, 0302 clinical medicine, business.industry, Medicine, Pharmacology (medical), 030212 general & internal medicine, 030204 cardiovascular system & hematology, Cardiology and Cardiovascular Medicine, business, Humanities
Abstract

Resumen Introduccion y objetivo La hipercolesterolemia familiar (HF) es el trastorno genetico mas frecuente asociado con enfermedad coronaria prematura debido a la presencia de cLDL incrementado desde el nacimiento. Se encuentra infradiagnosticada e infratratada. El objetivo primario del proyecto ARIAN es determinar el numero de pacientes diagnosticados de HF tras implantar un nuevo procedimiento de cribado desde el laboratorio. Material y metodos Este proyecto se ha disenado como un analisis retrospectivo mediante consulta al sistema informatico. Se seleccionaron de las bases de datos de laboratorio aquellas muestras de suero de pacientes ≥ 18 anos con cLDL directos o calculados > 250 mg/dl, desde el 1 de enero del 2017 hasta el 31 de diciembre del 2018. Una vez descartadas causas secundarias, se comunico al medico de Atencion Primaria solicitante la sospecha de que su paciente pudiera portar una HF y gestionar una cita prioritaria en la unidad de Lipidos. Todos aquellos pacientes con una puntuacion ≥ 6 puntos de los criterios de las Clinicas holandesas se les propuso un estudio genetico. Resultados El protocolo se presento a 55 laboratorios de forma individualizada. Hasta el dia 30 de diciembre del 2020, el numero centros que han remitido resultados es de 24. El numero de muestras analizadas hasta ese momento fue de 3.266.341, lo que representa un 34% de la poblacion atendida en esas areas de salud (9.727.434). Conclusiones La identificacion de nuevos sujetos con HF mediante esta nueva estrategia desde el laboratorio y su remision a las unidades de Lipidos debe incrementar el numero de pacientes tratados en las unidades de Lipidos y permitir iniciar cribados en cascada familiar.

Published
2021

5. Efficacy of PCSK9 inhibitors in the treatment of heterozygous familial hypercholesterolemia: A clinical practice experience

Author

Patricia Rubio, Raimundo de Andrés, Raquel Arroyo-Olivares, Pedro Mata, María Dolores Mañas, Francisco Fuentes-Jiménez, Marta Casañas, Pilar Alvarez-Baños, Francisco Arrieta, Ovidio Muñiz-Grijalvo, Rodrigo Alonso, Leopoldo Pérez-Isla, José María Cepeda, Marta Dieguez, Juan Francisco Sánchez Muñoz-Torrero, José Luis Díaz-Díaz, Daniel Zambón, Pablo Gonzalez-Bustos, Rocío Aguado, and Rosa Argüeso

Subjects
Male, medicine.medical_specialty, Injections, Subcutaneous, Endocrinology, Diabetes and Metabolism, Disease, Familial hypercholesterolemia, 030204 cardiovascular system & hematology, Antibodies, Monoclonal, Humanized, Cohort Studies, Hyperlipoproteinemia Type II, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, Internal Medicine, medicine, Humans, Prospective Studies, 030212 general & internal medicine, PCSK9 Inhibitors, Prospective cohort study, Aged, Alirocumab, Nutrition and Dietetics, business.industry, Cholesterol, LDL, Middle Aged, medicine.disease, Clinical Practice, Evolocumab, Treatment Outcome, Cohort, Female, lipids (amino acids, peptides, and proteins), Cardiology and Cardiovascular Medicine, business, Follow-Up Studies
Abstract

PCSK9 inhibitors are a treatment option for patients with familial hypercholesterolemia not on low-density lipoprotein cholesterol goals despite the use of maximally tolerated high intensity-statins dose.To evaluate the efficacy of alirocumab and evolocumab in LDL-C reduction and targets attainment in patients with heterozygous familial hypercholesterolemia in clinical practice setting.SAFEHEART is an open, long-term prospective study of a cohort of subjects with molecular diagnosis of familial hypercholesterolemia. This study analyze subjects ≥ 20 years of age on stable lipid-lowering therapy, who received PCSK9 inhibitors during the period 2016 to January 2020.433 patients (mean age 55 years, 53% male, 39% with cardiovascular disease) were included and followed-up for a median of 2.5 years (IQR 1.6-3.0). Median LDL-C level prior to PCSK9 inhibitors was 145 mg/dL (IQR 125-173). The addition of PCSK9 inhibitors (211 alirocumab, 222 evolocumab) reduced LDL-C by 58% (IQR 41-70) p0.001, in men and women, achieving a median LDL-C level of 62 mg/dL (IQR 44-87) without differences between both PCSK9 inhibitors. Out of them 67% with and 80% without cardiovascular disease reached 2016 ESC/EAS LDL-C targets, and 46% very high risk and 50% high risk patients achieved 2019 ESC/EAS LDL-C goals. Independent predictor factors for attainment of 2019 ESC/EAS LDL-C goals were to be male, smoking and the use of statins with ezetimibe. Both inhibitors were well tolerated.PCSK9 inhibitors on top of maximum lipid-lowering treatment significantly reduced LDL-C levels in patients with familial hypercholesterolemia and improved the achievement of LDL-C targets.

Published
2021

6. Incidencia de eventos cardiovasculares y cambios en el riesgo estimado y en el tratamiento de la hipercolesterolemia familiar: registro SAFEHEART

Author

Leopoldo Pérez de Isla, Raquel Arroyo-Olivares, Rodrigo Alonso, Ovidio Muñiz-Grijalvo, José Luis Díaz-Díaz, Daniel Zambón, Francisco Fuentes, Nelva Mata, Mar Piedecausa, M. Dolores Mañas, Juan F. Sánchez Muñoz-Torrero, José Pablo Miramontes-González, Raimundo de Andrés, Marta Mauri, Rocío Aguado, Ángel Brea, José M. Cepeda, José I. Vidal-Pardo, Ceferino Martínez-Faedo, Miguel Ángel Barba, Rosa Argüeso, Enrique Ruiz-Pérez, Alfredo Michán, Francisco Arrieta, María Riestra Fernández, Leire Pérez, José M. Pinilla, Gonzalo Díaz-Soto, Xavier Pintó, Teresa Padró, Lina Badimón, Pedro Mata, Begoña Perez-Corral, Fátima Almagro, Raquel Arroyo, Adriana Saltijeral, Daniel Mosquera, Marta Casañas, Julio Carbayo, Jose María Cepeda, Raimundo De Andrés, José L. Díaz, Marta Diéguez, María Riestra, José López-Miranda, Jesús Galiana, Jesús García-Cruces, Juan Antonio Garrido, Luis Irigoyen, Pedro L. Martínez, Lorena Suárez, Rosa M. Borrallo, Juan Diego Mediavilla, Fernando Jaén, Pablo González, Patricia Rubio, Pablo Miramontes, Juan L. Morera, Ovidio Muñiz, Aurora González, Francisca Pereyra, José Pastor, José Miguel Pinilla, Manuel J. Romero, Enrique Ruiz, M. Pilar Álvarez, Pedro Sáenz, Juan F. Sánchez, Consuelo Sanz, and Jose I. Vidal

Subjects
03 medical and health sciences, 0302 clinical medicine, business.industry, Medicine, 030204 cardiovascular system & hematology, Cardiology and Cardiovascular Medicine, business, Humanities
Abstract

Resumen Introduccion y objetivos El estudio SAFEHEART se diseno para analizar la situacion y mejorar el conocimiento de la hipercolesterolemia familiar heterocigota (HFH) en Espana. Nuestro objetivo es determinar la tasa de incidencia de eventos cardiovasculares, el riesgo estimado de sufrir un evento y su modificacion, el empleo de tratamiento hipolipemiante y la consecucion de objetivos de colesterol unido a lipoproteinas de baja densidad en pacientes con HFH. Metodos El SAFEHEART es un estudio prospectivo de cohorte, abierto, multicentrico, de escala nacional, con seguimiento protocolizado a largo plazo en una poblacion de HFH caracterizada molecularmente. Se analizo a los pacientes mayores de 18 anos con seguimiento completo. Resultados El analisis en este estudio se hizo con 2.648 pacientes con HFH. La mediana de seguimiento fue de 6,6 (4,8-9,7) anos. La tasa de incidencia general de eventos cardiovasculares fue de 1,3 eventos/100 pacientes-ano. El riesgo estimado de sufrir un evento cardiovascular a 10 anos se redujo en el seguimiento, y paso del 1,6 al 1,3% (p Conclusiones En este estudio se muestra la tasa de incidencia de eventos cardiovasculares, el riesgo estimado de sufrir un evento cardiovascular en la mayor poblacion de pacientes con HF en Espana, asi como su modificacion, la consecucion de objetivos en colesterol unido a lipoproteinas de baja densidad y su tratamiento. Aunque el riesgo cardiovascular de la HFH es elevado, un adecuado tratamiento reduce la probabilidad de sufrir un evento. Estudio registrado en ClinicalTrials.gov (Identificador: NCT02693548).

Published
2020

7. Tratamiento de la hipercolesterolemia familiar con iPCSK9 en un paciente diagnosticado de distrofia muscular congénita con contraindicación para la toma de estatinas

Author

Iratxe Martínez de Narvajas Urra, Sergio Arnedo Hernández, Ramón Baeza Trinidad, Marta Casañas Martínez, Estela Menéndez Fernández, Elisa Rabadán Pejenaute, José Daniel Mosquera Lozano, and Ángel Brea Hernando

Subjects
03 medical and health sciences, 0302 clinical medicine, Pharmacology (medical), 030212 general & internal medicine, 030204 cardiovascular system & hematology, Cardiology and Cardiovascular Medicine
Abstract

Resumen Las estatinas estan contraindicadas en pacientes con miopatias. Hasta hace unos anos, la alternativa en pacientes con hipercolesterolemia familiar que tenian distrofias musculares y no conseguian niveles adecuados de colesterol era la lipoaferesis. Cuando surgieron los inhibidores de PCSK9, se consiguio suspender la lipoaferesis en algunos de estos pacientes y mantenerlos con concentraciones plasmaticas de colesterol adecuadas. Presentamos el caso de un varon, diagnosticado en la infancia de distrofia muscular congenita. A los 27 anos se remitio a la unidad de lipidos por hipercolesterolemia, donde tras estudio genetico se confirmo una hipercolesterolemia familiar heterocigota. A pesar del tratamiento con dieta y ezetimiba continuo con cifras elevadas de cLDL por lo que se incluyo en programa de lipoaferesis. Con esto se alcanzaron niveles de cLDL de 70 mg/dl. Al disponer de los iPCSK9, se suspendio la lipoaferesis y se inicio tratamiento con alirocumab 150 mg quincenal, con buena respuesta y manteniendo valores de cLDL en torno a 75 mg/dl.

Published
2019

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