Wylie B, Gibson J, Uhr E, Kronenberg H
Haematology Department, Royal Prince Alfred Hospital, Sydney.
Pathology. 1988 Jan;20(1):62-3. doi: 10.3109/00313028809085199.
The clinical and laboratory features of a patient with a recently recognized new variant of von Willebrand's disease are presented. The importance of this variant is that it is associated with a clinically significant bleeding diathesis but with a normal skin bleeding time, PTTK, factor VIIIc and platelet aggregation with 1 mg/ml ristocetin. The distinctive laboratory features are increased platelet sensitivity to low concentrations of ristocetin, and the presence of all plasma von Willebrand factor multimers, but in reduced amounts. The need for thorough investigation of patients with significant bleeding history despite apparently normal screening tests is emphasized.
本文介绍了一名患有最近发现的血管性血友病新变体患者的临床和实验室特征。这种变体的重要性在于，它与具有临床意义的出血素质相关，但皮肤出血时间、部分凝血活酶时间、因子VIIIc以及血小板在1mg/ml瑞斯托霉素存在下的聚集均正常。其独特的实验室特征是血小板对低浓度瑞斯托霉素的敏感性增加，以及血浆中所有血管性血友病因子多聚体均存在，但含量减少。强调了对于尽管筛查试验看似正常但有明显出血史的患者进行全面检查的必要性。
