Thrombocytopenia, a distinctive feature of type 2B VWD, is not always present at baseline the contribution to bleeding and need for platelet transfusion poorly defined. Adjunctive therapies common in other types of VWD are also useful in type 2B VWD, including antifibrinolytics (aminocaproic acid, tranexamic acid), topical hemostatic agents, and interventions for uterine bleeding (intrauterine devices, hormonal therapies, anatomic measures).
2 The mainstay of type 2B VWD treatment is VWF replacement therapy. Other laboratory features, such as loss of high-molecular-weight VWF multimers and thrombocytopenia, are common in type 2B VWD, but are not universal. Type 2B VWD is distinguished from other type 2 VWD types by a gain-of-function defect in VWF that causes enhanced VWF–platelet interactions via platelet GPIb. Here we review the available evidence and provide 3 clinical cases to illustrate the intricacies of diagnosing type 2B VWD to describe the response to DDAVP and to review complexities and management during pregnancy. 1-Desamino-8- d-arginine vasopressin (DDAVP) is controversial because of exacerbation of thrombocytopenia, but is, in practice, sometimes used for minor bleeding. Adjunct therapies useful in other types of VWD, such as antifibrinolytics, are also used in type 2B VWD. The mainstay of therapy for type 2B VWD is VWF replacement therapy. Thrombocytopenia, although not always present, is common and can be exacerbated by physiologic stressors such as pregnancy. Diagnostic criteria include a history of mucocutaneous bleeding, laboratory studies showing enhanced VWF binding of platelets and/or a 2B VWD genetic variant, and a family history consistent with autosomal dominant inheritance.
Although this disorder is seemingly well defined because of this single molecular defect, in reality type 2B VWD is a clinically heterogeneous disorder that can be difficult to identify and manage. Type 2B von Willebrand disease (VWD) is an inherited bleeding disorder caused by changes in von Willebrand factor (VWF) that enhance binding of VWF to GPIb on platelets.
0 kommentar(er)
