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

  1. Arrobas Velilla, Teresa
  2. Brea, Ángel
  3. Valdivielso, Pedro
  4. Alguacil, Begoña Gallardo
  5. Temprano, Ramon Pérez 1
  6. Quesada, Mar Martínez 1
  7. Rico, Miguel Ángel
  8. Herrán, Lourdes Diez
  9. Grijalbo, Ovidio Muñiz 2
  10. Yun, Purificación García 3
  11. Villar, Francisca Jiménez-Mena 3
  12. Pérez, Francisco Morales 3
  13. Albarrán, Olga González 3
  14. Puebla, Mercedes Herranz
  15. Robles, Carolina Puertas 4
  16. Anguila, Silvia Campos 5
  17. Ruiz, Joan Lima 5
  18. Ruiz, Armando Raúl Guerra 6
  19. Hernández, José Luis Hernández
  20. Lario, José Vicente García
  21. Busto, Pablo González 7
  22. Alemán, Fernando Rodríguez 7
  23. García, María Mar Águila 7
  24. Ávila, Fernando Jaén 7
  25. Benito, Goitzane Marcaida 8
  26. Gracia, Juan José Tamarit 8
  27. Cobos, Cristina Gómez 9
  28. Planella, Juan Ramón Urgeles 9
  29. Cucalón, Luis Irigoyen 10
  30. Orna, José Antonio Gimeno
  31. Budría, José Ruiz 10
  32. Rico, Ignacio Vázquez
  33. Garrido, Jessica Roa
  34. Pérez, Enrique Ruiz 11
  35. Álvarez, María Maravi 11
  36. Pereg, Laura de la Maza 11
  37. García, María Victoria Poncela 11
  38. Palencia, María Martin 11
  39. Talavera, David Peñalver 12
  40. Álvaro, Montaña Jiménez 12
  41. Duque, Marco Puma 13
  42. Rodríguez, Almudena Vigil 13
  43. Alonso, Juan Manuel Fernández 13
  44. Armas, José Alfredo Martin 14
  45. Mazorra, Magdalena León 14
  46. Cabrera, Casimira Domínguez 14
  47. Gracia, Lidia Esther Ruiz 14
  48. Foncillas, José Puzo
  49. Sala, Xavier Pintó
  50. Castro, María José Castro 15
  51. Murillo, Fernando Civeira
  52. Calmarza, Pilar
  53. Hernández, Rosa Sánchez 16
  54. Ruiz, Marta Riaño 16
  55. García-Lescun, Camino García 17
  56. Amor, María Almudena 17
  57. Alegría, Eduardo
  58. Ferrer, Cristina Soler 17
  59. Costa, Mercé Montesino 18
  60. Rus, Antonio 19
  61. Casañas, Marta
  62. Mostrar todos os autores +
  1. 1 Hospital Virgen Macarena (Sevilla)
  2. 2 Hospital Virgen del Rocío (Sevilla)
  3. 3 Hospital Universitario de Badajoz
    info

    Hospital Universitario de Badajoz

    Badajoz, España

  4. 4 Hospital Gregorio Marañón (Madrid)
  5. 5 Hospital Vall d'Hebron
    info

    Hospital Vall d'Hebron

    Barcelona, España

    ROR https://ror.org/03ba28x55

  6. 6 Hospital Universitario Marqués de Valdecilla. (Santander)
  7. 7 Hospital Universitario Virgen de las Nieves y Hospital Universitario clínico San Celicio (Granada)
  8. 8 Hospital General Universitario de Valencia
    info

    Hospital General Universitario de Valencia

    Valencia, España

    ROR https://ror.org/03sz8rb35

  9. 9 Hospital Universitario Son Espasses (Palma de Mallorca)
  10. 10 Hospital Clínico Universitario Lozano Blesa (Zaragoza)
  11. 11 Complejo Asistencial Universitario de Burgos
    info

    Complejo Asistencial Universitario de Burgos

    Burgos, España

    ROR https://ror.org/01j5v0d02

  12. 12 Hospital Virgen del Puerto (Plasencia)
  13. 13 Hospital Universitario Infanta Cristina de Parla (Madrid)
  14. 14 Hospital Universitario de Gran Canaria Dr. Negrín
  15. 15 Hospital Universitario de Bellvitge
  16. 16 Hospital Insular de Gran Canaria
  17. 17 Hospital Universitario de Torrejón
    info

    Hospital Universitario de Torrejón

    Torrejon de Ardoz, España

  18. 18 Institut d’Assistencia Sanitaria Santa Caterina (Gerona)
  19. 19 Hospital San Pedro (Logroño)
Revista:
Clínica e investigación en arteriosclerosis

ISSN: 0214-9168 1578-1879

Ano de publicación: 2021

Volume: 33

Número: 6

Páxinas: 289-295

Tipo: Artigo

DOI: HTTPS://DOI.ORG/10.1016/J.ARTERI.2021.03.004 DIALNET GOOGLE SCHOLAR

Outras publicacións en: Clínica e investigación en arteriosclerosis

Resumo

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.

Información de financiamento

Financiadores