Reichenberger F, Wehner L-E, Breithecker A, Voswinckel R, Mensch O, Schulz R, Ghofrani H A
Lungenzentrum, Medizinische Klinik II, Universitätsklinikum Giessen und Marburg, Standort Giessen.
Pneumologie. 2009 Nov;63(11):669-74. doi: 10.1055/s-0029-1215111. Epub 2009 Sep 29.
In hereditary haemorrhagic teleangiectasia (HHT) can be accompanied by pulmonary arteriovenous vascular malformations (PAVM). Pulmonary hypertension (PH) is regarded as a rare pulmonary manifestation.
We non-invasively assessed the pulmonary circulation in 20 patients with HHT using standard resting echocardiography including contrast studies. In 14 patients a mutation in the endoglin gene was present. The other 6 patients carried a mutation in the Alk-1 gene.
We identified 4 patients with manifest PH, among them 2 patients (both with endoglin mutations) with concurrent thromboembolism, and 2 patients (both with Alk-1 mutations) with hepatic manifestations of HHT. Two patients required specific pulmonary vasoactive therapy with sildenafil and bosentan, respectively. Another patient received embolisation therapy for hypercirculatory PH due to hepatic arteriovenous malformations. Pulmonary arteriovenous malformations were found in 8 patients (7 with endoglin, and 1 with Alk-1 mutations), among them were 2 patients with PH.
Patients with HHT should undergo echocardiographic screening for PAVM as well as PH. When PH is detected, other conditions such as hepatic or thromboembolic diseases should be considered, regardless of the underlying genetic defect.
遗传性出血性毛细血管扩张症（HHT）可伴有肺动静脉血管畸形（PAVM）。肺动脉高压（PH）被视为一种罕见的肺部表现。
我们使用包括造影研究在内的标准静息超声心动图对20例HHT患者的肺循环进行了无创评估。14例患者存在内皮素基因的突变。另外6例患者携带ALK-1基因的突变。
我们识别出4例有明显PH的患者，其中2例（均为内皮素基因突变）并发血栓栓塞，2例（均为ALK-1基因突变）有HHT的肝脏表现。2例患者分别需要使用西地那非和波生坦进行特异性肺血管活性治疗。另1例患者因肝动静脉畸形接受了针对高循环性PH的栓塞治疗。8例患者发现有PAVM（7例为内皮素基因突变，1例为ALK-1基因突变），其中2例有PH。
HHT患者应接受超声心动图筛查以检测PAVM和PH。当检测到PH时，无论潜在的基因缺陷如何，都应考虑其他情况，如肝脏或血栓栓塞性疾病。
