Casonato A, Pontara E, Boscaro M, Dannhauser D, Sartori M T, Girolami A
Institute of Medical Semeiotics, University of Padua, Italy.
Haematologia (Budap). 1993;25(1):57-67.
A family with concurrent haemophilia A and type I von Willebrand's disease (vWd) is described. The propositus was affected by both disorders. The propositus' mother was an obligate carrier of haemophilia A being the daughter of a haemophilic. The father and sister were affected by vWd. The sister was also a possible carrier of haemophilia A. This is the first report of both disorders occurring simultaneously. The infusion of 1-desamino-8-d-arginine vasopressin (DDAVP) induced, in the propositus, a normalization of circulating levels of vWf, with a less pronounced enhancement of factor VIII:C. In the father, the response to DDAVP infusion of factor VIII/vWf complex was normal. In the mother, the time-course of factor VIII:C was characterized, after a peak at 30 min, by a progressive decrease until 2 hours after infusion, in contrast to vWf which appeared further increased at the same times. Therefore, the low factor VII:C/vWf:Ag ratio, already present before infusion, became significantly more pronounced 2 hours after DDAVP. Similar findings were observed in another obligate carrier of the family, in the propositus' sister and in 10 other haemophilia A carriers, belonging to different kindreds. In all patients, even when the basal factor VIII:C/vWf:Ag ratio was normal, two hours after DDAVP it decreased in agreement with the haemophilia A carrier state.
本文描述了一个同时患有甲型血友病和Ⅰ型血管性血友病（vWd）的家族。先证者同时患有这两种疾病。先证者的母亲是甲型血友病的必然携带者，她是一名血友病患者的女儿。父亲和姐姐患有vWd。姐姐也可能是甲型血友病的携带者。这是两种疾病同时发生的首例报告。对先证者输注1-去氨基-8-D-精氨酸加压素（DDAVP）后，循环中血管性血友病因子（vWf）水平恢复正常，而凝血因子Ⅷ：C的升高则不太明显。在父亲中，DDAVP输注后因子Ⅷ/vWf复合物的反应正常。在母亲中，凝血因子Ⅷ：C的时间进程在输注后30分钟达到峰值，随后逐渐下降，直至输注后2小时，而vWf在同一时间进一步升高。因此，输注前就已存在的低因子Ⅶ：C/vWf：Ag比值在DDAVP输注后2小时变得更加明显。在该家族的另一名必然携带者、先证者的姐姐以及另外10名来自不同家族的甲型血友病携带者中也观察到了类似的结果。在所有患者中，即使基础因子Ⅷ：C/vWf：Ag比值正常，DDAVP输注后2小时该比值也会下降，这与甲型血友病携带者状态相符。
