Floria Mariana, Năfureanu Elena Diana, Iov Diana-Elena, Sîrbu Oana, Dranga Mihaela, Ouatu Anca, Tănase Daniela Maria, Bărboi Oana Bogdana, Drug Vasile Liviu, Cobzeanu Mihail Dan
Internal Medicine Department, "Grigore T. Popa" University of Medicine and Pharmacy, 700115 Iași, Romania.
"Dr. Iacob Czihac" Military Emergency Hospital, 700483 Iași, Romania.
J Clin Med. 2022 May 7;11(9):2634. doi: 10.3390/jcm11092634.
Hereditary hemorrhagic telangiectasia is a rare autosomal dominant vascular disease defined by the presence of mucosal and cutaneous telangiectasia and visceral arterio-venous malformations. The latter are abnormal capillary-free direct communications between the pulmonary and systemic circulations with the following consequences: arterial hypoxemia caused by right-to-left shunts; paradoxical embolism with transient ischemic attack or stroke and brain abscess caused by the absence of the normally filtering capillary bed; and hemoptysis or hemothorax due to the rupture of the thin-walled arterio-venous malformations (particularly during pregnancy). It is frequently underdiagnosed, commonly presenting as complications from shunting through arterio-venous malformations: dyspnea, chronic bleeding, or embolism. Arterio-venous malformations are present not only in the lungs, but can also be found in the liver, central nervous system (mainly in the brain), nasal mucosa, or the gastrointestinal tract. The first choice of therapy is embolization of the afferent arteries of the arterio-venous malformations, a minimally invasive procedure with a high efficacy, a low morbidity, and low mortality. Other therapeutic modalities are surgery (resection) or stereotactic radiosurgery (using radiation). Routine screening for arterio-venous malformations is indicated in patients diagnosed with this condition and can prevent severe complications such as acute hemorrhages, brain abscesses, or strokes. Clinicians should provide a long-term follow-up for patients with arterio-venous malformations, in an effort to detect their growth or reperfusion in case of previously treated malformations. In spite of two experts' consensuses, it still possesses multiple therapeutic challenges for physicians, as several aspects regarding the screening and management of arterio-venous malformations still remain controversial. Multidisciplinary teams are especially useful in complex cases.
遗传性出血性毛细血管扩张症是一种罕见的常染色体显性血管疾病，其特征为黏膜和皮肤毛细血管扩张以及内脏动静脉畸形。后者是肺循环和体循环之间异常的无毛细血管直接连通，会导致以下后果：右向左分流引起的动脉血氧不足；因缺乏正常的过滤毛细血管床导致的反常栓塞伴短暂性脑缺血发作或中风以及脑脓肿；薄壁动静脉畸形破裂（尤其是在怀孕期间）导致的咯血或血胸。该病经常被漏诊，通常表现为动静脉畸形分流引起的并发症：呼吸困难、慢性出血或栓塞。动静脉畸形不仅存在于肺部，也可出现在肝脏、中枢神经系统（主要是脑部）、鼻黏膜或胃肠道。治疗的首选方法是栓塞动静脉畸形的供血动脉，这是一种微创操作，疗效高、发病率低且死亡率低。其他治疗方式包括手术（切除）或立体定向放射外科手术（使用放射线）。对于诊断为此病的患者，建议进行动静脉畸形的常规筛查，这可以预防严重并发症，如急性出血、脑脓肿或中风。临床医生应对动静脉畸形患者进行长期随访，以便在先前治疗的畸形出现生长或再灌注时及时发现。尽管有两位专家达成了共识，但对医生来说，它仍然存在多个治疗挑战，因为动静脉畸形的筛查和管理的几个方面仍然存在争议。多学科团队在复杂病例中尤其有用。
