遗传性出血性毛细血管扩张症的诊断

Combined diagnosis of hereditary hemorrhagic telangiectasis

目的总结遗传性出血性毛细血管扩张症(hereditary hemorrhagic telangiectasis,HHT)病例,提高临床诊断水平。方法回顾本组5例HHT患者,通过症状、体征以及腹部B彩超发现HHT的典型特征,结合家族史信息,参照国际诊断标准确诊HHT。结果 5例患者中男性3例,女性2例,年龄31～73岁,中位数年龄72岁,3例有家族史,2例为散发病例,符合典型症状体征,腹部彩超发现肝脏和脾脏异常血管改变。结论 HHT的诊断应该综合症状、体征以及腹部彩超等辅助检查。

OBJECTIVE To summarize the diagnostic and differential diagnostic criteria of hereditary hemorrhagic telangiectasis（HHT）.METHODS 5 cases of HHT were enrolled in this study,clinical characteristics and abdominal ultrosonography were used to diagnose these subjects.RESULTS The gender male to female ratio was 3/2,from 31 to 73y with median age of 72y,3 cased had familiar history and 2 were sporadic.Liver and spleen angioneoplasm were detected by abdominal ultrosonography in all 5 subjects.CONCLUSION The diagnosis of HHT should combined clinical characteristics a n d a u x i l i a r y e x a m i n a t i o n s u c h a s a b d o m i n a l ultrosonography.