Computerized registry of patients with hemorrhagic hereditary telangiectasia (RiHHTa Registry) in Spain: Objectives, methods, and preliminary results
Por:
Riera-Mestre A, Mora Luján JM, Sanchez R, Torralba Cabeza MA, Patier de la Peña JL, Juyol Rodrigo MC, Lopez Wolf D, Ojeda Sosa A, Monserrat L and López Rodríguez M
Publicada:
1 dic 2018
Categoría:
Medicine (miscellaneous)
Resumen:
Introduction: Hereditary hemorrhagic telangiectasia (HHT) is a rare disease with autosomal dominant inheritance that causes systemic vascular affectation.
Material and method: After development a multicentric Spanish national registry, called RiHHTa, main clinical manifestations and diagnostic procedures of the first patients introduced are described.
Results: 141 patients were included, of which 91 (64.5%) were women. The mean age at diagnosis was 42 years. Mutations in the ACVRL1 gene predominated over the ENG gene. The initial symptom was recurrent epistaxis in 130 (92.2%) patients and in three (2.1%), brain abscess. Pulmonary arteriovenous (AV) fistula were detected in 36 (45%) of the 79 patients who underwent thoracic CT angiography. The contrast echocardiography detected very few bubbles (grade I) or none, in 36 (45%) of these 79 affected patients. In 43 (67.2%) of the 64 patients with an abdominal CT angiography, hepatic vascular malformations were detected, mostly telangiectasias, AV and arterio-portal fistula, and extrahepatic in 14 (10%) subjects. More than half of the patients were screened for the presence of brain arteriovenous malformations which was found in 3.9% of them. The upper part of the intestinal tube was the most (95%) affected region.
Conclusion: The RiHHTa Registry allows improving the management of patients with HHT. An inadequate use of thoracic CT angiography and the usefulness of abdominal CT angiography has been detected in order to define subtypes of hepatic vascular involvement and detect extrahepatic vascular involvement. (C) 2018 Elsevier Espana, S.L.U. and Sociedad Espanola de Medicina Interna (SEMI). All rights reserved.
Filiaciones:
Riera-Mestre A:
Unidad de Telangiectasia Hemorrágica Hereditaria, Servicio de Medicina Interna, Hospital Universitari de Bellvitge-IDIBELL, L'Hospitalet de Llobregat, Barcelona, España
Facultad de Medicina y Ciencias de la Salud, Universitat de Barcelona, Barcelona, España
Grupo de Trabajo en Enfermedades Minoritarias, Sociedad Española de Medicina Interna
Mora Luján JM:
Unidad de Telangiectasia Hemorrágica Hereditaria, Servicio de Medicina Interna, Hospital Universitari de Bellvitge-IDIBELL, L'Hospitalet de Llobregat, Barcelona, España
Grupo de Trabajo en Enfermedades Minoritarias, Sociedad Española de Medicina Interna
Sanchez R:
Grupo de Trabajo en Enfermedades Minoritarias, Sociedad Española de Medicina Interna
Servicio de Medicina Interna, Hospital General Universitario de Alicante, Alicante, España
Torralba Cabeza MA:
Grupo de Trabajo en Enfermedades Minoritarias, Sociedad Española de Medicina Interna
Servicio de Medicina Interna, Hospital Clínico Universitario Lozano Blesa, Zaragoza, España
Patier de la Peña JL:
Grupo de Trabajo en Enfermedades Minoritarias, Sociedad Española de Medicina Interna
Servicio de Medicina Interna, Hospital Universitario Ramón y Cajal, Madrid, España
Juyol Rodrigo MC:
Grupo de Trabajo en Enfermedades Minoritarias, Sociedad Española de Medicina Interna
Servicio de Medicina Interna, Hospital Universitario Miguel Servet, Zaragoza, España
Lopez Wolf D:
Grupo de Trabajo en Enfermedades Minoritarias, Sociedad Española de Medicina Interna
Servicio de Medicina Interna, Hospital Universitario Fundación Alcorcón, Alcorcón, Madrid, España
Ojeda Sosa A:
Grupo de Trabajo en Enfermedades Minoritarias, Sociedad Española de Medicina Interna
Servicio de Medicina Interna, Hospital Insular Universitario de Gran Canaria, Las Palmas de Gran Canaria, Las Palmas, España
Monserrat L:
Grupo de Trabajo en Enfermedades Minoritarias, Sociedad Española de Medicina Interna
Health in Code, A Coruña, España
López Rodríguez M:
Grupo de Trabajo en Enfermedades Minoritarias, Sociedad Española de Medicina Interna
Servicio de Medicina Interna, Hospital Central de la Cruz Roja, Madrid, España
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