title: An update on type 2B von Willebrand disease.
abstract: Type 2B von Willebrand disease (VWD) accounts for fewer than 5% of all VWD patients. In this disease, mutations in the A1 domain result in increased von Willebrand factor (VWF) binding to platelet GPIbα receptors, causing increased platelet clearance and preferential loss of high molecular weight VWF multimers. Diagnosis is complicated because of significant clinical variations even among patients with identical mutations. Platelet transfusion often provides suboptimal results since transfused platelets may be aggregated by the patients' abnormal VWF. Desmopressin may cause a transient decrease in platelet count that could lead to an increased risk of bleeding. Replacement therapy with factor VIII/VWF concentrates is the most effective approach to prevention and treatment of bleeding in type 2B VWD.
authors: Department of Hematology, Ohio State University Medical Center, Columbus, OH, USA.
authors: Sameh
authors: S
authors: Mikhail
authors: Ehab Saad
authors: ES
authors: Aldin
authors: Michael
authors: M
authors: Streiff
authors: Amer
authors: A
authors: Zeidan
mesh_terms: D001792:Blood Platelets / Q000378:metabolism; D003894:Deamino Arginine Vasopressin / Q000627:therapeutic use; D003937:Diagnosis, Differential; D004338:Drug Combinations; D005169:Factor VIII / Q000627:therapeutic use; D006470:Hemorrhage / Q000209:etiology; D006801:Humans; D009154:Mutation; D019038:Platelet Glycoprotein GPIb-IX Complex / Q000378:metabolism; D056728:von Willebrand Disease, Type 2 / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics; D014841:von Willebrand Factor / Q000235:genetics / Q000378:metabolism / Q000627:therapeutic use
chemical_list: D004338:Drug Combinations; D019038:Platelet Glycoprotein GPIb-IX Complex; C094990:adhesion receptor; C509423:factor VIII, von Willebrand factor drug combination; D014841:von Willebrand Factor; D005169:Factor VIII; D003894:Deamino Arginine Vasopressin