遗传性出血性毛细血管扩张症一家系诊断与治疗研究

The diagnosis and treatment of a familial disease-hereditary hemorrhagic telangiectasia

目的:探讨遗传性出血性毛细血管扩张症(HHT)家系的临床特征、诊断及治疗。方法:对先证者进行家系调查、体格检查及胃肠镜检查,经过沙利度胺治疗后复查胃肠镜。结果:本家系4代包括先证者在内共7例患者。先证者经沙利度胺系统治疗后,症状缓解,胃镜复查出血灶明显减少。结论:遗传性出血性毛细血管扩张症家系以反复胃出血为主要表现,沙利度胺能够很好地控制患者的出血症状。

Objective：To learn more the clinical features,diagnosis and treatment of Hereditary hemorrhagic telangiectasia（HHT）.Methods：The records before and after thalidomide therapy,including family investigation,physical examination and endoscopic examination,were reviewed of the patient who was presented with recurrent gastrointestinal bleeding,and later was diagnosed as HHT.Results：In the four-generation pedigree,including the proband himself,a total of 7 patients were suffered from HHT.After treatment by thalidomide,the patient＇ s gastrointestinal bleeding was effectively controlled.Conclusion：This family of HHT patients are characterized by repeated gastric bleeding,and thalidomide therapy is proved to be effective.