Format

Send to

Choose Destination
Rev Clin Esp. 2018 Dec;218(9):468-476. doi: 10.1016/j.rce.2018.07.002. Epub 2018 Sep 1.

Computerized registry of patients with hemorrhagic hereditary telangiectasia (RiHHTa Registry) in Spain: Objectives, methods, and preliminary results.

[Article in English, Spanish]

Author information

1
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. Electronic address: ariera@bellvitgehospital.cat.
2
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.
3
Grupo de Trabajo en Enfermedades Minoritarias, Sociedad Española de Medicina Interna; Servicio de Medicina Interna, Hospital General Universitario de Alicante, Alicante, España.
4
Grupo de Trabajo en Enfermedades Minoritarias, Sociedad Española de Medicina Interna; Servicio de Medicina Interna, Hospital Clínico Universitario Lozano Blesa, Zaragoza, España.
5
Grupo de Trabajo en Enfermedades Minoritarias, Sociedad Española de Medicina Interna; Servicio de Medicina Interna, Hospital Universitario Ramón y Cajal, Madrid, España.
6
Grupo de Trabajo en Enfermedades Minoritarias, Sociedad Española de Medicina Interna; Servicio de Medicina Interna, Hospital Universitario Miguel Servet, Zaragoza, España.
7
Grupo de Trabajo en Enfermedades Minoritarias, Sociedad Española de Medicina Interna; Servicio de Medicina Interna, Hospital Universitario Fundación Alcorcón, Alcorcón, Madrid, España.
8
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.
9
Grupo de Trabajo en Enfermedades Minoritarias, Sociedad Española de Medicina Interna; Health in Code, A Coruña, España.
10
Grupo de Trabajo en Enfermedades Minoritarias, Sociedad Española de Medicina Interna; Servicio de Medicina Interna, Hospital Central de la Cruz Roja, Madrid, España.

Abstract

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.

KEYWORDS:

Enfermedades minoritarias; Hemorrhagic hereditary telangiectasia; Rare diseases; Registro RiHHTa; RiHHTa Registry; Telangiectasia hemorrágica hereditaria

PMID:
30177223
DOI:
10.1016/j.rce.2018.07.002

Supplemental Content

Full text links

Icon for Elsevier Science
Loading ...
Support Center