Shovlin C L, Winstock A R, Peters A M, Jackson J E, Hughes J M
Department of Medicine, Royal Postgraduate Medical School, Hammersmith Hospital, London, UK.
QJM. 1995 Dec;88(12):879-87.
Hereditary haemorrhagic telangiectasia (HHT) displays significant variation in severity between affected individuals in the same family, ranging from relatively trivial epistaxis and telangiectasia to gastrointestinal, cerebral and pulmonary involvement. Evidence for successful therapy of HHT-related haemorrhage with oestrogens and progesterones, and recent case reports outlining pulmonary complications of pregnancy in HHT, prompted us to review the outcome of 161 pregnancies in 47 affected women. HHT-related maternal complications developed in eleven patients, ten in the subgroup of 23 pregnancies in which pulmonary arteriovenous malformations (PAVMs) were present at the outset, or documented in the two years following pregnancy. We present six cases of intrapulmonary shunt deterioration, two cases of fatal pulmonary haemorrhage and three cerebrovascular accidents related to pregnancy. A predisposition towards PAVMs in females was observed. Following the recent discovery of mutations in the endoglin gene in this disease, our data support a hypothesis of hormonal modification of the HHT phenotype. In addition, a significant excess of affected offspring are present in HHT families. We consider contributary aetiological factors, and discuss implications for patient management.
遗传性出血性毛细血管扩张症（HHT）在同一家族的患病个体之间严重程度差异显著，从相对轻微的鼻出血和毛细血管扩张到胃肠道、脑部和肺部受累不等。有证据表明雌激素和孕激素成功治疗了HHT相关出血，以及最近有病例报告概述了HHT患者妊娠的肺部并发症，促使我们回顾了47名患病女性的161次妊娠结局。11名患者出现了HHT相关的母体并发症，其中10例出现在最初存在肺动静脉畸形（PAVM）或在妊娠后两年记录到PAVM的23次妊娠亚组中。我们报告了6例肺内分流恶化、2例致命性肺出血和3例与妊娠相关的脑血管意外。观察到女性易患PAVM。在最近发现该疾病的内皮素基因发生突变后，我们的数据支持了HHT表型受激素修饰的假说。此外，HHT家族中患病后代明显过多。我们考虑了相关的病因因素，并讨论了对患者管理的影响。
