Medical management of haemorrhagic hereditary telangiectasia in adult patients
Med Clin (Barc). 2019 Apr 5;152(7):274-280.
doi: 10.1016/j.medcli.2018.09.015.
Epub 2018 Nov 27.
[Article in
English,
Spanish]
Affiliations
- 1 Unidad de Telangiectasia Hemorrágica Hereditaria, Hospital Universitari de Bellvitge-IDIBELL, L'Hospitalet de LLobregat, Barcelona, España; 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. Electronic address: ariera@bellvitgehospital.cat.
- 2 Unidad de Telangiectasia Hemorrágica Hereditaria, Hospital Universitari de Bellvitge-IDIBELL, L'Hospitalet de LLobregat, Barcelona, España; Servicio de Neumología, Hospital Universitari de Bellvitge-IDIBELL, L'Hospitalet de LLobregat, Barcelona, España.
- 3 Unidad de Telangiectasia Hemorrágica Hereditaria, Hospital Universitari de Bellvitge-IDIBELL, L'Hospitalet de LLobregat, Barcelona, España; Facultad de Medicina y Ciencias de la Salud, Universitat de Barcelona, Barcelona, España; Unidad de Hepatología y Trasplante hepático, Servicio de Aparato Digestivo, Hospital Universitari de Bellvitge-IDIBELL, L'Hospitalet de LLobregat, Barcelona, España.
Abstract
Hereditary haemorrhagic telangiectasia (HHT) is an autosomal dominant inherited Rare Disease that causes a systemic anomalous vascular overgrowth. The approach and follow-up of these patients should be from multidisciplinary units. Its diagnosis is carried out according to Curaçao clinical Criteria. Telangiectasia in the nasal mucosa cause recurrent epistaxis, the main symptom of HHT and difficult to control. The three types of hepatic shunting, hepatic artery to hepatic vein, hepatic artery to portal vein or to portal vein to hepatic vein, can cause high-output heart failure, portal hypertension or porto-systemic encephalopathy, respectively. These types of vascular involvement can be established using computerised tomography. Pulmonary arteriovenous fistula should be screened for all HHT patients by contrast echocardiography. The main objective is to review the management of epistaxis, liver and lung involvement of the adult patient with HHT.
Keywords:
Enfermedades Minoritarias; Haemorrhagic hereditary telangiectasia; Rare diseases; Telangiectasia hemorrágica hereditaria; Vascular malformation; malformación vascular.
Copyright © 2018 Elsevier España, S.L.U. All rights reserved.
Publication types
-
Research Support, Non-U.S. Gov't
-
Review
MeSH terms
-
Adult
-
Arteriovenous Fistula / etiology
-
Arteriovenous Fistula / therapy
-
Arteriovenous Malformations / complications
-
Epistaxis / etiology
-
Epistaxis / therapy
-
Heart Failure / etiology
-
Heart Failure / therapy
-
Hepatic Artery / abnormalities
-
Hepatic Encephalopathy / etiology
-
Hepatic Encephalopathy / therapy
-
Hepatic Veins / abnormalities
-
Humans
-
Hypertension, Portal / etiology
-
Hypertension, Portal / therapy
-
Hypertension, Pulmonary / etiology
-
Hypertension, Pulmonary / therapy
-
Lung / blood supply
-
Portal Vein / abnormalities
-
Telangiectasia, Hereditary Hemorrhagic* / complications
-
Telangiectasia, Hereditary Hemorrhagic* / diagnosis
-
Telangiectasia, Hereditary Hemorrhagic* / genetics