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.
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.
Med Clin (Barc). 2019 Apr 5;152(7):274-280. doi: 10.1016/j.medcli.2018.09.015. Epub 2018 Nov 27.
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.
遗传性出血性毛细血管扩张症（HHT）是一种常染色体显性遗传的罕见疾病，会导致全身异常血管过度生长。这些患者的治疗和随访应该由多学科团队进行。其诊断依据是 Curaçao 临床标准。鼻腔黏膜的毛细血管扩张导致反复鼻出血，这是 HHT 的主要症状，且难以控制。三种类型的肝分流，肝动脉至肝静脉、肝动脉至门静脉或门静脉至肝静脉，分别可导致高输出量心力衰竭、门静脉高压或门体脑病。这些类型的血管受累可以通过计算机断层扫描来确定。所有 HHT 患者都应通过对比超声心动图筛查肺动静脉瘘。主要目的是回顾 HHT 成年患者的鼻出血、肝脏和肺部受累的管理。
