Pendahuluan Penyakit Von Willebrand

Oleh :

dr. Inge Nandya H

Penyakit von Willebrand atau dikenal sebagai von Willebrand Disease (VWD) adalah penyakit autosomal herediter yang dan mengakibatkan gangguan pembekuan darah.[1,2]

Sebanyak 70% pasien mengalami VWD tipe 1 dan bersifat ringan (walau beberapa kasus dapat bersifat berat), 25% pasien mengalami VWD tipe 2, dan 5% pasien mengalami VWD paling berat yaitu tipe 3.[4,5,8]

Meski jarang, beberapa kondisi atau penyakit seperti autoimun, keganasan, kelainan hematologi lain dan penggunaan obat-obatan seperti asam valproat, ciprofloxacin, aspirin dapat menimbulkan gejala mirip VWD, yang disebut sebagai acquired von Willebrand syndrome (AVWS).[2]

Referensi

1. König G, Obser T, Marggraf O, Schneppenheim S, Budde U, Schneppenheim R, Brehm MA. Alteration in GPIIb/IIIa Binding of VWD-Associated von Willebrand Factor Variants with C-Terminal Missense Mutations. Thromb Haemost. 2019 Jul;119(7):1102-11. doi: 10.1055/s-0039-1687878.
2. Centers for Disease Control and Prevention. What is von Willebrand disease?. Centers for Disease Control and Prevention, 2021. https://www.cdc.gov/ncbddd/vwd/facts.html.
3. Cortes GA, Moore M, El-Nakeep S. Physiology, Von Willebrand Factor. In: StatPearls. Treasure Island (FL): StatPearls Publishing; 2022. https://www.ncbi.nlm.nih.gov/books/NBK559062/
4. Swami A and Kaur V. von Willebrand disease: a concise review and update for the practicing physician. Hemostasis. 2017;23(7):900-10.
5. National Heart Lung and Blood Institute. The diagnosis, evaluation, and management of von Willebrand disease. National Heart Lung and Blood Institute, 2007. https://www.nhlbi.nih.gov/sites/default/files/media/docs/vwd.pdf.
7. Sabih A and Babiker H. von Willebrand disease. Statpearls, 2021. https://www.statpearls.com/ArticleLibrary/viewarticle/31270.
8. Favaloro EJ. Rare forms of von Willebrand disease. Ann Transl Med. 2018;6(17):345. http://dx.doi.org/10.21037/atm.2018.09.10.
12. Nazzaro AM, Philipp CS, James AH. von Willebrand disease. Rare Disease Database, 2021. https://rarediseases.org/rare-diseases/von-willebrand-disease/.
15. Centers for Disease Control and Prevention. von Willebrand disease, diagnosis. Centers for Disease Control and Prevention, 2020. https://www.cdc.gov/ncbddd/vwd/diagnosis.html
19. Schwartz RA, Steen CJ, Gascon P. Factor X deficiency. Medscape, 2021. https://emedicine.medscape.com/article/209867-overview.
20. Siegel JE. Factor XI deficiency. Medscape, 2019. https://emedicine.medscape.com/article/209984-overview.
21. Drelich DA. Hemophilia A (factor VIII deficiency). Medscape, 2021. https://emedicine.medscape.com/article/779322-overview.
22. Bragadottir G, Birgisdottir ER, Gudmundsdottir BR, Hilmarsdottir B, Vidarsson B, Magnusson MK, Larsen OH, Sorensen B, Ingerslev J, Onundarson PT. Clinical phenotype in heterozygote and biallelic Bernard-Soulier syndrome- a case control study. Am J Hematol. 2015;90(2):149-55. doi: 10.1002/ajh.23891.
25. Castaman G and Linari S. Diagnosis and treatment of von Willebrand disease and rare bleeding disorders. J Clin Med. 2017;6(4):45. PMID: 28394285.
28. Sharma R and Flood VH. Advances in the diagnosis and treatment of von Willebrand disease. Blood. 2017;130(22):2386-391. https://doi.org/10.1182/blood-2017-05-782029.
32. Arif M. Laboratory diagnosis of von Willebrand’s disease. Indones Biomed J. 2019;1(3)57-64. DOI: 10.18585/inabj.v1i3.100.
35. Connell NT, Flood VH, Brignardello-Petersen R, Abdul-Kadir R, Arapshian A, Couper S, Grow JM, Kouides P, Laffan M, Leebeek FWG, et al. ASH ISTH NHF WFH 2021 guidelines on the management of von Willebrand disease. Blood Adv. 2021;5(1):301-25. DOI 10.1182/bloodadvances.2020003264.
37. The American College of Obstetricians and Gynecologist. von Willebrand disease in woman. 2013. Dapat diakses pada: https://www.acog.org/-/media/project/acog/acogorg/clinical/files/committee-opinion/articles/2013/12/von-willebrand-disease-in-women.pdf.
41. American Society of Hematology. Bleeding disorders. American Society of Hematology, 2021. https://www.hematology.org/education/patients/bleeding-disorders#a3.
43. Rick EM. (2021). von Willebrand disease (VWD): Treatment of major bleeding and major surgery. https://www.uptodate.com/contents/von-willebrand-disease-vwd-treatment-of-major-bleeding-and-major-surgery
46. Miesbach W, Berntorp E. Translating the success of prophylaxis in haemophilia to von Willebrand disease. Thromb Res. 2021 Mar;199:67-74. doi: 10.1016/j.thromres.2020.12.030. Epub 2021 Jan 6. PMID: 33445035.
47. Franchini M, Seidizadeh O, Mannucci PM. Prophylactic management of patients with von Willebrand disease. Ther Adv Hematol. 2021 Dec 22;12:20406207211064064. doi: 10.1177/20406207211064064. PMID: 34987743; PMCID: PMC8721401.

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