Von Willebrand disease (VWD) is caused by defective platelet adhesion, which results from defects in the von Willebrand factor (VWF) protein. Type 1 VWD is characterized by a bleeding disorder associated with a partial deficiency of VWF. This type accounts for 50-70% of VWD, being the most common type. The onset of bleeding varies; earlier onset is usually associated with severe VWF deficiency. The bleeding disorder associated with type I VWD is characterized by menorrhagia, epistaxis, or prolonged bleeding after trauma and/or a surgical intervention.
There are several treatment options for affected patients. Patients with type I VWD generally show a good response to desmopressin.
VWD is caused by mutations in the von Willebrand factor (VWF) gene. Mutations in this gene lead to intracellular retention or rapid clearance of VWF from the circulation. The level of VWF in blood group O is 25-35% lower than in non-O blood groups. Therefore, individuals with blood group O are at a greater risk for developing VWD.
See Saudi Arabia > El-Bostany et al., 2008
El-Bostany et al. (2008) recruited 43 children and adolescents from Saudi Arabia and Egypt with various bleeding disorders to assess the prevalence of Inherited bleeding disorders (IBD). Their ages ranged from 1-18 years. They also included 15 matched controls. Extensive laboratory work-ups were made including, complete blood count, coagulation studies and platelets functional studies. A total of 12 patients were found to meet the criteria of VWD. Multimeric analysis, used to determine the subtype of VWD, found that two of these patients had VWD type I. The authors concluded that VWB was common in Egypt and Saudi Arabia and therefore, hematological screening ought to be considered routinely in children with family history of bruising or bleeding disorders.