VON WILLEBRAND'S DISEASE
Keywords:
von Willebrand disease, menorrhagia, petechiae, hemorrhage.Abstract
The most characteristic and specific symptom of von Willebrand disease is bleeding from the mucous membranes of the mouth, nose, and internal organs. Symptoms of bleeding vary from moderate to extremely severe and occur predominantly of the microcirculatory type. Patients with a severe deficiency of factor VIII experience heavy and prolonged bleeding (nasal, gingival, uterine), as well as hemorrhages in the muscles and joints. In addition, prolonged bleeding may occur due to injuries, tooth extraction, and operations. In childhood, there is often bleeding from the mucous membranes of the mouth, nosebleeds, and bruises on the skin. A more severe course of hemorrhagic diathesis is observed during or shortly after infectious diseases. The most likely trigger for bleeding due to infection is impaired vascular permeability. As a result, spontaneous bleeding of the diapedetic type appears.
References
1. Bowman M., Tuttle A., Notley C. et al. The genetics of Canadian type 3 von Willebrand disease: further evidence for co-dominant inheritance of mutant alleles. J Thromb Haemost. 2013; 11(3): 512-20. https://doi.org/10.1111/jth.12130.
2. Casonato A., Galletta E., Sarolo L., Daidone V. Type 2N von Willebrand disease: Characterization and diagnostic diffi culties. Haemophilia. 2018; 24(1): 134-40. https://doi.org/10.1111/hae.13366
3. Flood V.H. New insights into genotype and phenotype of VWD. Hematology. 2014; (1): 531-5. https://doi.org/10.1182/asheducation-2014.1.531
4. Goodeve A.C. The genetic bases of von Willebrand disease. Blood Reviews. 2010; 24: 123-34. https://doi.org/10.1016/j.blre.2010.03.003.
5. Jokela V., Lassila R., Szanto T. et al. Phenotypic and genotypic characterization of 10 Finnish patients with von Willebrand disease type 3: discovery of two main mutations. Haemophilia. 2013; 19(6): 344-8. https://doi.org/10.1111/hae.12225.
6. Likhacheva E.A., Polyanskaya T.Yu., Zorenko V.Yu. i dr. Klinicheskie rekomendatsii po diagnostike i lecheniyu bolezni Villebranda. M.: Natsional'noe gematologicheskoe obshchestvo, 2014.
7. Scottish Intercollegiate Guidelines Network (SIGN). SIGN 50: a guideline developer’s handbook. Edinburgh: SIGN; 2014. (SIGN publication no. 50). [October 2014]. Available from URL: http://www.sign.ac.uk
