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
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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.
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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