title: Laboratory diagnosis and management of von Willebrand disease in Turkey: Izmir experience.
abstract: Von Willebrand disease (VWD) is caused by a deficiency or dysfunction of  Von Willebrand factor (VWF). The pathophysiology, classification, diagnosis, and management of VWD are relatively complex, but their understanding is important for proper diagnosis and management of patients with VWD. There are inherent difficulties in both the identification and classification of VWD because of clinical uncertainty and the limitations in the test processes and test panels typically used by laboratories. The most common test panel employed by laboratories, particularly in the geographic regions covered by the mutational studies, would comprise factor VIII coagulant (FVIII:C), VWF protein (antigen; VWF:Ag), and ristocetin cofactor (VWF:RCo). In our center, use of a desmopressin challenge with our core four-test panel (i.e., VWF:Ag, VWF:RCo, FVIII:C, and PFA-100) is expected to further assist laboratory diagnosis of VWD in Turkey. Molecular genetics is a rather new approach for Turkey, with gene analyses related to VWD being initiated in one center and the results used for confirmation of diagnosis in limited cases.
authors.affiliation: Department of Pediatric Hematology, Ege University, Faculty of Medicine, Izmir, Turkey. drmehmetakin@yahoo.com.tr
authors.forename: Mehmet
authors.initials: M
authors.lastname: Akin
authors.forename: Kaan
authors.initials: K
authors.lastname: Kavakli
mesh_terms: D019411:Clinical Laboratory Techniques / Q000379:methods*; D003029:Coagulants / Q000627:therapeutic use*; D003894:Deamino Arginine Vasopressin / Q000627:therapeutic use; D005169:Factor VIII / Q000627:therapeutic use; D006801:Humans; D014421:Turkey; D014842:von Willebrand Diseases / Q000145:classification / Q000175:diagnosis* / Q000188:drug therapy*; D014841:von Willebrand Factor / Q000627:therapeutic use
chemical_list: D003029:Coagulants; D014841:von Willebrand Factor; D005169:Factor VIII; D003894:Deamino Arginine Vasopressin