Implantación de un programa de cribado bioquímico y genético de hipercolesterolemia familiar. Colaboración entre el laboratorio clínico y las unidades de lípidosdiseño del Proyecto ARIAN
- Arrobas Velilla, Teresa
- Brea, Ángel
- Valdivielso, Pedro
- Alguacil, Begoña Gallardo
- Temprano, Ramon Pérez 1
- Quesada, Mar Martínez 1
- Rico, Miguel Ángel
- Herrán, Lourdes Diez
- Grijalbo, Ovidio Muñiz 2
- Yun, Purificación García 3
- Villar, Francisca Jiménez-Mena 3
- Pérez, Francisco Morales 3
- Albarrán, Olga González 3
- Puebla, Mercedes Herranz
- Robles, Carolina Puertas 4
- Anguila, Silvia Campos 5
- Ruiz, Joan Lima 5
- Ruiz, Armando Raúl Guerra 6
- Hernández, José Luis Hernández
- Lario, José Vicente García
- Busto, Pablo González 7
- Alemán, Fernando Rodríguez 7
- García, María Mar Águila 7
- Ávila, Fernando Jaén 7
- Benito, Goitzane Marcaida 8
- Gracia, Juan José Tamarit 8
- Cobos, Cristina Gómez 9
- Planella, Juan Ramón Urgeles 9
- Cucalón, Luis Irigoyen 10
- Orna, José Antonio Gimeno
- Budría, José Ruiz 10
- Rico, Ignacio Vázquez
- Garrido, Jessica Roa
- Pérez, Enrique Ruiz 11
- Álvarez, María Maravi 11
- Pereg, Laura de la Maza 11
- García, María Victoria Poncela 11
- Palencia, María Martin 11
- Talavera, David Peñalver 12
- Álvaro, Montaña Jiménez 12
- Duque, Marco Puma 13
- Rodríguez, Almudena Vigil 13
- Alonso, Juan Manuel Fernández 13
- Armas, José Alfredo Martin 14
- Mazorra, Magdalena León 14
- Cabrera, Casimira Domínguez 14
- Gracia, Lidia Esther Ruiz 14
- Foncillas, José Puzo
- Sala, Xavier Pintó
- Castro, María José Castro 15
- Murillo, Fernando Civeira
- Calmarza, Pilar
- Hernández, Rosa Sánchez 16
- Ruiz, Marta Riaño 16
- García-Lescun, Camino García 17
- Amor, María Almudena 17
- Alegría, Eduardo
- Ferrer, Cristina Soler 17
- Costa, Mercé Montesino 18
- Rus, Antonio 19
- Casañas, Marta
- Erakutsi egile guztiak +
- 1 Hospital Virgen Macarena (Sevilla)
- 2 Hospital Virgen del Rocío (Sevilla)
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3
Hospital Universitario de Badajoz
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Hospital Universitario de Badajoz
Badajoz, España
- 4 Hospital Gregorio Marañón (Madrid)
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5
Hospital Vall d'Hebron
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- 6 Hospital Universitario Marqués de Valdecilla. (Santander)
- 7 Hospital Universitario Virgen de las Nieves y Hospital Universitario clínico San Celicio (Granada)
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8
Hospital General Universitario de Valencia
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- 9 Hospital Universitario Son Espasses (Palma de Mallorca)
- 10 Hospital Clínico Universitario Lozano Blesa (Zaragoza)
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11
Complejo Asistencial Universitario de Burgos
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- 12 Hospital Virgen del Puerto (Plasencia)
- 13 Hospital Universitario Infanta Cristina de Parla (Madrid)
- 14 Hospital Universitario de Gran Canaria Dr. Negrín
- 15 Hospital Universitario de Bellvitge
- 16 Hospital Insular de Gran Canaria
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17
Hospital Universitario de Torrejón
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Hospital Universitario de Torrejón
Torrejon de Ardoz, España
- 18 Institut d’Assistencia Sanitaria Santa Caterina (Gerona)
- 19 Hospital San Pedro (Logroño)
ISSN: 0214-9168, 1578-1879
Argitalpen urtea: 2021
Alea: 33
Zenbakia: 6
Orrialdeak: 289-295
Mota: Artikulua
Beste argitalpen batzuk: Clínica e investigación en arteriosclerosis
Laburpena
Introduction and objective Familial hypercholesterolaemia (FH) is the most common genetic disorder associated with premature coronary artery disease due to the presence of LDL-C cholesterol increased from birth. It is underdiagnosed and undertreated. The primary objective of the ARIAN project was to determine the number of patients diagnosed with FH after implementing a new screening procedure from the laboratory. Material and methods This project was designed as a retrospective analysis by consulting the computer system. We selected from databases serum samples from patients ≥ 18 years with direct or calculated LDL-C > 250 mg/dL from 1 January 2017 to 31 December 2018. Once secondary causes had been ruled out, the requesting primary care physician was notified that their patient might have FH and to arrange a priority appointment in the lipid unit. All patients with a score of ≥ 6 points according to the Dutch Lipid Clinic Criteria were proposed for a genetic study Results By December 30th, 2020, 24 centres out of the initial 55 had submitted results. The number of patients analysed up to that point was 3,266,341, which represents 34% of the population served in those health areas (9,727,434). Conclusions The identification of new subjects with FH through this new strategy from the laboratory and their referral to lipid units should increase the number of patients treated in lipid units and initiate familial cascade screening.