Gastroenterology Department, HHT Center, Maggiore Hospital, Largo Dossena 2, 26013, Crema, Italy.
Dig Dis Sci. 2011 Jul;56(7):2166-78. doi: 10.1007/s10620-011-1585-2. Epub 2011 Feb 3.
Hereditary hemorrhagic telangiectasia is a genetic disease characterized by teleangiectasias involving virtually every organ. There are limited data in the literature regarding the natural history of liver vascular malformations in hemorrhagic telangiectasia and their associated morbidity and mortality.
This prospective cohort study sought to assess the outcome of liver involvement in hereditary hemorrhagic telangiectasia patients.
We analyzed 16 years of surveillance data from a tertiary hereditary hemorrhagic telangiectasia referral center in Italy. We considered for inclusion in this study 502 consecutive Italian patients at risk of hereditary hemorrhagic telangiectasia who presented at the hereditary hemorrhagic telangiectasia referral center and underwent a multidisciplinary screening protocol for the diagnosis of hereditary hemorrhagic telangiectasia. Of the 502 individuals assessed in the center, 154 had hepatic vascular malformations and were the subject of the study; 198 patients with hereditary hemorrhagic telangiectasia and without hepatic vascular malformations were the controls. Additionally, we report the response to treatment of patients with complicated hepatic vascular malformations.
The 154 patients were included and followed for a median period of 44 months (range 12-181); of these, eight (5.2%) died from VM-related complications and 39 (25.3%) experienced complications. The average incidence rates of death and complications were 1.1 and 3.6 per 100 person-years, respectively. The median overall survival and event-free survival after diagnosis were 175 and 90 months, respectively. The rate of complete response to therapy was 63%.
This study shows that substantial morbidity and mortality are associated with liver vascular malformations in hereditary hemorrhagic telangiectasia patients.
遗传性出血性毛细血管扩张症是一种以涉及几乎所有器官的毛细血管扩张为特征的遗传疾病。关于遗传性出血性毛细血管扩张症患者肝脏血管畸形的自然病史及其相关发病率和死亡率，文献中数据有限。
本前瞻性队列研究旨在评估遗传性出血性毛细血管扩张症患者肝脏受累的结局。
我们分析了意大利一家三级遗传性出血性毛细血管扩张症转诊中心 16 年的监测数据。我们纳入了该研究的患者为 502 例有遗传性出血性毛细血管扩张症风险的意大利连续患者，他们在遗传性出血性毛细血管扩张症转诊中心就诊，并接受了遗传性出血性毛细血管扩张症的多学科筛查方案以确诊。在中心评估的 502 名个体中，有 154 名患有肝脏血管畸形，为研究对象；198 名患有遗传性出血性毛细血管扩张症且无肝脏血管畸形的患者为对照组。此外，我们还报告了治疗复杂肝脏血管畸形患者的反应。
154 例患者被纳入并随访中位数为 44 个月（范围 12-181）；其中 8 例（5.2%）死于 VM 相关并发症，39 例（25.3%）发生并发症。死亡和并发症的平均发生率分别为每 100 人年 1.1 和 3.6 例。中位总生存和诊断后无事件生存分别为 175 和 90 个月。治疗的完全缓解率为 63%。
本研究表明，肝脏血管畸形与遗传性出血性毛细血管扩张症患者的发病率和死亡率密切相关。
