Hemorrhagic symptoms and bleeding risk in obligatory carriers of type 3 von Willebrand disease: an international, multicenter study
Hemorrhagic symptoms and bleeding risk in obligatory carriers of type 3 von Willebrand disease: an international, multicenter study
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DOI：
10.1111/j.1538-7836.2006.02070.x
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发表时间：
2006-10-01
影响因子：
10.4
通讯作者：
Ungerstedt, J. S.
中科院分区：
文献类型：
--
作者：
Castaman, G.;Rodeghiero, F.;Ungerstedt, J. S.
目的：我们开展了一项国际性的多中心研究，以描述3型von Willebrand病(VWD)携带者的临床特征，并评估其出血风险。患者和方法：3型VWD的强制性携带者(OC)是通过存在3型VWD的后代或3型患者的后代来识别的。正常对照组的年龄和性别与强制携带者相匹配。医生管理的标准化问卷被用来评估出现出血症状。用0(无症状)到3(住院、替代治疗、输血)评分系统对出血症状进行量化。计算每个症状的优势比。结果：10个中心参与研究，共纳入35个3型VWD家系，70个OC。包括215名正常对照组和42名1型VWD的OC。约40%的3型OC有至少一种出血症状，而正常对照组和1型OC的这一比例分别为23%和81.8%(卡方检验P<；0.0001)，这表明3型OC明显代表了与1型OC不同的人群。与3型OC出血风险增加相关的临床表现有鼻出血[优势比3.6；90%可信区间1.84~21.5]、皮肤出血(优势比5.5；90%可信区间2.5~14.1)和术后出血(优势比16.3；90%可信区间4.5~59)。出血严重程度与血浆凝血因子(F)VIII降低程度相关。结论：3型VWD的OC代表了与1型OC不同的人群。然而，与正常对照组相比，这些患者表现出更频繁的出血症状，特别是在FVIII显著降低的情况下。在这些病例中，去氨加压素和/或氨甲环酸可能对预防或治疗出血有用。
Objectives: We undertook an international, multicenter study to describe the clinical picture and to estimate the bleeding risk in a group of obligatory carriers of type 3 von Willebrand disease (VWD). Patients and methods: Obligatory carriers (OC) of type 3 VWD were identified by the presence of offspring with type 3 VWD or by being an offspring of a type 3 patient. Normal controls were age- and sex-matched with the obligatory carriers. A physician-administered standardized questionnaire was used to evaluate hemorrhagic symptoms at presentation. A score system ranging from 0 (no symptom) to 3 (hospitalization, replacement therapy, blood transfusion) was used to quantitate bleeding manifestations. Odds ratios were computed for each symptom. Results: Ten centers participated to the study, enrolling a total of 35 type 3 VWD families, with 70 OC. A total of 215 normal controls and 42 OC for type 1 VWD were also included. About 40% of type 3 OC had at least one bleeding symptom compared to 23% of normal controls and 81.8% of type 1 OC (P < 0.0001 by chi-squared test), showing that type 3 OC clearly represent a distinct population from type 1 OC. The clinical situations associated with an increase of bleeding risk in type 3 OC were epistaxis [odds ratio 3.6; 90% confidence intervals (CI) 1.84-21.5], cutaneous bleeding (odds ratio 5.5; 90% CI 2.5-14.1) and postsurgical bleeding (odds ratio 16.3; 90% CI 4.5-59). The severity of bleeding score correlated with the degree of factor (F) VIII reduction in plasma. Conclusions: OC for type 3 VWD represent a distinctive population from type 1 OC. These patients, however, present with more frequent bleeding symptoms in comparison to normal controls, especially in case of significantly low FVIII. Desmopressin and/or tranexamic acid might be useful to prevent or treat bleeding in these cases.