Ferreira Diva, Amado Joana, Duarte Raquel, Almeida José, Morgado Paulo, Shiang Teresa
Centro Hospitalar de Villa Nova de Gaia.
Rev Port Pneumol. 2006 Jul-Aug;12(4):383-99. doi: 10.1016/s0873-2159(15)30441-4.
Pulmonary arteriovenous malformations are a rare disorder associated to hereditary hemorrhagic telangiectasia in over 50 % of the cases. Clinical presentation, diagnostic work-up, therapeutic options and prognosis are reviewed by the authors. Pulmonary arteriovenous malformations are known to have considerable morbidity and mortality, their treatment being advisable as well as their screening among family members, especially if the index case is diagnosed with both pulmonary arteriovenous malformations and hereditary hemorrhagic telangiectasia. To this moment prospective studies establishing the best diagnostic work-up for the patients and their families are lacking. The authors report two pulmonary arteriovenous malformations cases in a family with hereditary hemorrhagic telangiectasia. Patient's diagnosis led to family screening which resulted in the identification of pulmonary arteriovenous malformations in two family members and pulmonary disease exclusion in four patients previously known to have hereditary hemorrhagic telangiectasia.
肺动静脉畸形是一种罕见的疾病，在超过50%的病例中与遗传性出血性毛细血管扩张症相关。作者对其临床表现、诊断检查、治疗选择和预后进行了综述。已知肺动静脉畸形具有相当高的发病率和死亡率，对其进行治疗以及对家庭成员进行筛查是可取的，特别是当索引病例被诊断为同时患有肺动静脉畸形和遗传性出血性毛细血管扩张症时。目前缺乏为患者及其家人确定最佳诊断检查方法的前瞻性研究。作者报告了一个患有遗传性出血性毛细血管扩张症的家族中的两例肺动静脉畸形病例。患者的诊断促使对家族进行筛查，结果在两名家庭成员中发现了肺动静脉畸形，并排除了四名先前已知患有遗传性出血性毛细血管扩张症患者的肺部疾病。
