Von Willebrand Disease Precision Panel
Von Willebrand disease (VWD) is the most common inherited bleeding disorder with a heterogeneous clinical presentation and genetic background.
Overview
Von Willebrand disease (VWD) is the most common inherited bleeding disorder with a heterogeneous clinical presentation and genetic background. The main feature relies on a deficiency or dysfunction of the protein named von Willebrand factor (vWF) resulting in an impaired primary homeostasis where platelets play a crucial role. Von Willebrand factor serves as a mediator for platelet adhesion during vascular injury and a reservoir and stabilizer for protein factor VIII, the absence of this protein causes a qualitative platelet disorder. Significant variability exists among family members that suffer from this disease depending on the amount on functioning circulating von Willebrand factor.
The Igenomix Von Willebrand Disease Precision Panel can be used to make an accurate and directed diagnosis as well as a differential diagnosis of recurrent bleeding ultimately leading to a better management and prognosis of the disease. It provides a comprehensive analysis of the genes involved in this disease using next-generation sequencing (NGS) to fully understand the spectrum of relevant genes involved.
Indication
- The Igenomix Von Willebrand Disease Precision Panel is indicated for those patients with a clinical suspicion or diagnosis with or without the following manifestations:
- Easy bruising
- Nosebleeds
- Gingival bleeding
- Severe hemorrhage
- Menorrhagia
- Jaundice
- Splenomegaly
- Hematomas
- Petechiae
- Ecchymosis
Clinical Utility
The clinical utility of this panel is:
- The genetic and molecular confirmation for an accurate clinical diagnosis of a symptomatic patient.
- Early initiation of treatment with a multidisciplinary team in the form of medical treatment with desmopressin, recombinant therapy and prevention of events that potentially increase risk of bleeding.
- Risk assessment and genetic counselling of asymptomatic family members according to the mode of inheritance.
- Improvement of delineation of genotype-phenotype correlation.
References
Veyradier, A., Boisseau, P., Fressinaud, E., Caron, C., Ternisien, C., & Giraud, M. et al. (2016). A Laboratory Phenotype/Genotype Correlation of 1167 French Patients From 670 Families With von Willebrand Disease. Medicine, 95(11), e3038. doi: 10.1097/md.0000000000003038
Sharma, R., & Flood, V. H. (2017). Advances in the diagnosis and treatment of Von Willebrand disease. Blood, 130(22), 2386–2391. https://doi.org/10.1182/blood-2017-05-782029
Ng, C. J., & Di Paola, J. (2018). von Willebrand Disease: Diagnostic Strategies and Treatment Options. Pediatric clinics of North America, 65(3), 527–541. https://doi.org/10.1016/j.pcl.2018.02.004
Swami, A., & Kaur, V. (2017). von Willebrand Disease: A Concise Review and Update for the Practicing Physician. Clinical and applied thrombosis/hemostasis : official journal of the International Academy of Clinical and Applied Thrombosis/Hemostasis, 23(8), 900–910. https://doi.org/10.1177/1076029616675969
Nichols, W. L., Hultin, M. B., James, A. H., Manco-Johnson, M. J., Montgomery, R. R., Ortel, T. L., Rick, M. E., Sadler, J. E., Weinstein, M., & Yawn, B. P. (2008). von Willebrand disease (VWD): evidence-based diagnosis and management guidelines, the National Heart, Lung, and Blood Institute (NHLBI) Expert Panel report (USA). Haemophilia : the official journal of the World Federation of Hemophilia, 14(2), 171–232. https://doi.org/10.1111/j.1365-2516.2007.01643.x
Goodeve, A. (2016). Diagnosing von Willebrand disease: genetic analysis. Hematology, 2016(1), 678-682. doi: 10.1182/asheducation-2016.1.678
