Von Willebrand Disease Case Study

INTRODUCTION: With a prevalence of 1%, von Willebrand Disease (vWD) is the most common inherited bleeding disorder 1. Of the 3 types of inherited vWD, Type 1 is the most common with a prevalence of 60 – 80%. Type 2 vWD has a prevalence of 20 – 30 %, while Type 3 vWD is the rarest, with a prevalence of 1% 2. Limited Indian studies however, have shown a much higher prevalence of approximately 10% 3. This figure may still not reflect the actual burden of this disease, owing to lack of investigative modalities in this resource poor country. Diagnostic work up in a case of Type 3 vWD patient who presented with bleeding symptoms is presented below.

CASE: 18 month old male child, a resident of rural India, born out of consanguineous marriage was

This causes a defective adhesion thereby affecting the formation of primary haemostatic plug. vWD Type 3 has an autosomal recessive inheritance 6. Consanguinity in India is particularly common in certain religious strata which might be the reason for the higher prevalence rate in the Indian population. It is characterized by undetectable levels of vWF and very low levels of factor VIII, which may be a cause of not only severe mucocutaneous bleeding but also hematomas and hemarthroses as in severe hemophilia

Most cases of bleeding disorders in India belong to the lower socioeconomic strata and far flung rural areas where these highly complex and sophisticated tests are unavailable. This has an impact not only on the correct diagnosis but also the management of such cases where it is of utmost importance in accurate classification of vWD cases. Since we were dealing with Type 3 vWD, the diagnosis was almost certain with very low levels of vWF:Ag and factor VIII levels. However we went a step ahead and confirmed the same with highly intricate tests such as the RiCoF assay and RIPA. In Type 2 vWD however, in addition with the above mentioned tests the multimer analysis holds the key to a precise diagnosis and further management of the patient. The classification of vWD is as shown in Table 2. To conclude, a number of vWD Type 1 cases might go unnoticed due to varied clinical presentation, whereas vWD Type 3 patients with florid clinical features are the ones who are not missed. This might be the cause for their higher prevalence in most Indian studies. None the less, a high degree of suspicion, comprehensive evaluation of patients and meticulous laboratory testing is required to estimate their actual