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[von Willebrand's disease]
D Mezzano1, J Pereira, T Quiroga
1Departamento de Hematología-Oncología, Escuela de Medicina, Universidad Católica de Chile, Santiago.
von Willebrand's disease is the most frequent congenital disorder of primary hemostasis; it is transmitted in an autosomal manner and according to type there is an alteration in structure, function and/or synthesis or release of von Willebrand's factor. Patients present with muco-cutaneous hemorrhages of varying severity. Significant advances in the understanding of the molecular defect and laboratory diagnosis of the different subtypes of the disease have been made in the last years, but we still face the emergence of new subtypes and the difficulties posed by the genetic, clinical and laboratory variability of the disorder.
von Willebrand's disease is the most frequent congenital disorder of primary hemostasis; it is transmitted in an autosomal manner and according to type there is an alteration in structure, function and/or synthesis or release of von Willebrand's factor. Patients present with muco-cutaneous hemorrhages of varying severity. Significant advances in the understanding of the molecular defect and laboratory diagnosis of the different subtypes of the disease have been made in the last years, but we still face the emergence of new subtypes and the difficulties posed by the genetic, clinical and laboratory variability of the disorder.