单中心162例血管性血友病患者的临床分析

Clinical studies of 162 patients with von Willebrand disease

目的总结国内单中心血管性血友病（VWD）的临床特征和诊治现状。方法回顾性分析162例VWD患者的临床资料和实验室检查结果。结果162例患者中男76例[中位年龄7．2（2．0-41．0）岁]、女86例[中位年龄20．7（5．0-48．0）岁]。1型VWD患者86例（53．1％），2型42例（25．9％，其中2A型33例、2M型4例、2N型5例），3型34例（21．0％）。87例（53．7％）患者有明确出血性疾病家族史。出血表现以皮肤瘀斑（61．7％）、鼻出血（53．7％）、手术或外伤后出血不止（53．1％）为主，月经量多为女性患者常见主诉（66．3％）。56例（34．6％）患者Vieenza出血评分为异常出血。45例（27．8％）患者接受血制品替代治疗，8例患者接受1．去氨基．8．右旋．精氨酸血管加压素治疗。57例月经量多的女性患者中，8例联合孕激素控制出血，2例行子宫切除术。结论VWD临床表现异质性较高，应分步进行确诊及分型检查并实施个体化治疗。

Objective To analyse the epidemiological feature, clinical characters and therapeutic regimens for von Willebrand disease （VWD）. Methods The clinical data and laboratory tests results of 162 VWD patients in our center were analyzed. Results There were 76 males and 86 female among these patients with the mean age of 7.2 （2.0-41.0） and 20.7 （5.0-48.0） years, respectively. 86 patients （53.1%） were identified to be type 1 VWD, 34 patients （21.0%） type 3 VWD and 42 patients （25.9%） type 2 VWD. Among type 2 VWD patients, 33 patients were type 2A, 4 patients type 2M, 5 patients type 2B. Eighty-seven patients （53.7%） had a definite family history of bleeding tendency. The most common and specific bleeding symptoms were easy bruising （61.7%）, epistaxis （53.7%）, prolonged bleeding after surgery or minor injury （53.1%）. Menorrhagia （66.3%） was common in female patients. The analysis of Vicenza bleeding scores in all patients showed that only 56 （34.6%） patients had abnormal bleeding scores. FVIII/VWF concentrates and cryoprecipitate were applied to 45 patients （27.8%）, Desmopressin （DDAVP） to 8 patients. Eight female patients need oral contraceptives jointly to control menorrhagia. Hysterectomy had to be performed in 2 female patients with VWD. Conclusion VWD was a common congenital bleeding disorder with heterogeneous characters, it was necessary to screen, identify, classify accurately this disease in order to supply to effectively individulized treatment.