БОРБОР АЗИЯДАГЫ ФОН ВИЛЛЕБРАНД ООРУСУ: АНЫ КАНТИП ЖЕҢЕБИЗ? (АДАБИЯТТАРГА СЕРЕП)
DOI:
https://doi.org/10.54890/.v2i2.1329Аннотация
Фон Виллебранд оорусу (VWD) – Фон Виллебранд факторунун (VWF) сандык жана/же сапаттык аномалиялары менен байланышкан генетикалык кан кетүү оорусу. Бул көбүнчө диагностикалык эмес жана ашыкча диагноз коюу көйгөйлөрүнө туш болгон оору жана көп учурда туура эмес диагноз менен жыйынтыкталып, бейтаптар үчүн алдын ала турган азапка алып келет жана саламаттыкты сактоо тутумунун жүгүн жогорулатат. Бул татаал
көйгөй фон Виллебранд факторунун (VWF) клиникалык көп түрдүүлүгү жана татаалдыгы жана аны менен байланышкан аномалиялар, ошондой эле так диагноз коюу үчүн клиникалык жана лабораториялык маалыматтарды тез арада интеграциялоо зарылчылыгы менен шартталган, өзгөчө Борбордук Азия чөлкөмүндө. VWD туура эмес диагностикасы чындап эле олуттуу кесепеттерге алып келиши мүмкүн, бул бейтаптардагы оорулардын жана өлүмдүн көбөйүшүнө алып келиши мүмкүн. Ашыкча диагностика керексиз диагноздорго алып келиши мүмкүн, ошондой эле бейтаптарды терапия учурунда тромбоздук тобокелдиктин жогорулашына алып келиши мүмкүн.
Ошого карабастан, VWD көп учурда бүткүл дүйнө жүзү боюнча, өзгөчө өнүгүп кележаткан өлкөлөрдө, туура эмес диагноз коюлган жана ашыкча диагноз коюлган. Бул изилдөө 19- кылымдан бүгүнкү күнгө чейин VWD диагнозу учурунда туш болгон көйгөйлөрдү камтыйт жана келечекте кантип жакшыртууну сунуштайт.
Ключові слова:
Фон Виллебранд оорусу (VWD), кан агуу, бузулуу, аномалиялар, Фон Виллебранд фактору (VWF), өлкөлөр, диагностика, методдор.Посилання
1. Federici AB. Acquired von Willebrand syndrome: an underdiagnosed and misdiagnosed bleeding complication in patients with lymphoproliferative and myeloproliferative disorders. Seminars in hematology. 2006;43(1 Suppl 1):S48-S58. https://doi.org/10.1053/j.seminhematol.2005.11.003
2. Colonne CK, Reardon B, Curnow J, Favaloro EJ. Why is Misdiagnosis of von Willebrand Disease Still Prevalent and How Can We Overcome It? A Focus on Clinical Considerations and Recommendations. J Blood Med. 2021;12:755-768. Published 2021 Aug 17. https://doi.org/10.2147/JBM.S266791
3. Rodeghiero F, Castaman G, Dini E. Epidemiological investigation of the prevalence of von Willebrand's disease. Blood. 1987 Feb;69(2):454-9.
4. Sadler JE, Budde U, Eikenboom JC, Favaloro EJ, Hill GH, Holmberg L, et al. Update on the pathophysiology and classification of von Willebrand disease: a report of the subcommittee on von Willebrand factor. J Thromb Haemost. 2006;4(10):2103–2114. https://doi.org/10.1111/j.1538-7836.2006.02146.x
5. Mahony BO, Savini L, Hara JO, Bok A. Haemophilia care in Europe - A survey of 37 countries. Haemophilia. 2017;23(4):e259-e266.https://doi.org/10.1111/hae.13263
6. Favaloro EJ, Pasalic L, Curnow J. Laboratory tests used to help diagnose von Willebrand disease: an update. Pathology. 2016;48(4):303–318. https://doi.org/ 10.1016/j.pathol.2016.03.001
7. Ewenstein BM. Von Willebrand's Disease. Annual Review of Medicine. 1997;48;525-542.https://doi.org/10.1146/ annurev.med.48.1.525
8. Lillicrap D. Von Willebrand disease: advances in pathogenetic understanding, diagnosis, and therapy. Blood. 2013;122(23):3735–3740. https://doi.org/10.1182/ blood-2013-06-498303
9. Ng C, Motto DG, Di Paola J. Diagnostic approach to von Willebrand disease. Blood. 2015;125(13):2029–2037. https://doi.org/10.1182/blood-2014-08-528398
10. Castaman G, Goodeve A, Eikenboom J; European Group on von Willebrand Disease. Principles of care for the diagnosis and treatment of von Willebrand disease. Haematologica. 2013;98(5):667-674. https://doi.org/10.3324/ haematol.2012.077263
11. De Jong A, Eikenboom J. Developments in the diagnostic procedures for von Willebrand disease. J ThrombHaemost. 2016;14(3):449–460. https://doi.org/ 10.1111/jth.13243
12. Lillicrap D, James P. Von Willebrand Disease: An Introduction for the Primary Care Physician. Treatment of Hemophilia. World Federation of Hemophilia; 2009. 47. 8 p. Available from: https://www.hfq.org.au/HFA/media/Documents /von%20Willebrand%20Disorder/Intro-to-VWD-2009.pdf
13. Bolton-Maggs PH, Lillicrap D, Goudemand J, Berntorp E. von Willebrand disease update: diagnostic and treatment dilemmas. Haemophilia. 2008;14(Suppl s3):56–61. https://doi.org/10.1111/j.1365-2516.2008.01713.x
14. Siboni S, Biguzzi E, Caiani V, Mistretta C, Bucciarelli P, Peyvandi F. Baseline factor VIII plasma levels and age at first bleeding in patients with severe forms of von Willebrand disease. Haemophilia. 2016;22(4):564–569. https://doi.org/ 10.1111/hae.12900
15. Sanders YV, Giezenaar MA, Laros-van Gorkom BA, Meijer K, van der Bom JG, Cnossen MH, et al.; WiN study group. Von Willebrand disease and aging: an evolving phenotype. J Thromb Haemost. 2014;12(7):1066-1075. https://doi.org/10.1111/jth.12586
16. Abebe W. Review of herbal medications with the potential to cause bleeding: dental implications, and risk prediction and prevention avenues. EPMA J. 2019;10(1):51–64. https://doi.org/10.1007/s13167-018-0158-2
17. Connell NT, Flood VH, Brignardello-Petersen R, Abdul-Kadir R, Arapshian A, Couper S, et al. ASH ISTH NHF WFH 2021 guidelines on the management of von Willebrand disease. Blood Advances. 2021;5(1):301‐325. https://doi.org/10.1182/ bloodadvances.2020003264
18. Rodeghiero F, Tosetto A, Abshire T, Arnold DM, Coller B, James P, et al. ISTH/SSC bleeding assessment tool: a standardized questionnaire and a proposal for a new bleeding score for inherited bleeding disorders. J Thromb Haemost. 2010;8(9):20632065. https://doi.org/10.1111/j.1538-7836.2010.03975.x
19. Brodersen J, Schwartz LM, Heneghan C, O’Sullivan JW, Aronson JK, Woloshin S. Overdiagnosis: what it is and isn’t. BMJ Evid Based Med. 2018;23(1):1–3. https://doi.org/10.1136/ebmed-2017-110886
20. Castaman G, Montgomery RR, Meschengieser SS, Haberichter SL, Woods AI, Lazzari MA. von Willebrand’s disease diagnosis and laboratory issues.Haemophilia. 2010;16 Suppl 5(5):67–73. https://doi.org/10.1111/j.1365-2516.2010.02296.x
21. Magnette A, Chatelain M, Chatelain B, Ten Cate H, Mullier F. Pre-analytical issues in the haemostasis laboratory: guidance for the clinical laboratories. Thromb J. 2016;14(1):49. https://doi.org/10.1186/s12959-016-0123-z
22. B. Haemostatic changes in pregnancy. Thromb Res. 2004;114(5–6):409–414. https://doi.org/10.1016/j.thromres.2004.08.004
23. Lippi G, Maffulli N. Biological influence of physical exercise on hemostasis. Semin Thromb Hemost. 2009;35(3):269–276. https://doi.org/10.1055/s-0029-1222605
24. Kouides PA, Conard J, Peyvandi F, Lukes A, Kadir R. Hemostasis and menstruation: appropriate investigation for underlying disorders of hemostasis in women with excessive menstrual bleeding. Fertil Steril. 2005;84(5):1345–1351. https://doi.org/10.1016/j.fertnstert.2005.05.035
25. Favaloro EJ, Lippi G. Preanalytical issues that may cause misdiagnosis in haemophilia and von Willebrand disease. Haemophilia. 2018;24(2):198–210. https://doi.org/10.1111/hae.13396
26. Favaloro EJ, Bonar RA, Meiring M, Duncan E, Mohammed S, Sioufi J, et al. Evaluating errors in the laboratory identification of von Willebrand disease in the real world. Thromb Res. 2014;134(2):393–403. https://doi.org/ 10.1016/j.thromres.2014.05.020
27. Verfaillie CJ, De Witte E, Devreese KM. Validation of a new panel of automated chemiluminescence assays for von Willebrand factor antigen and activity in the screening for von Willebrand disease. Int J Lab Hematol. 2013;35(5):555–565. https://doi.org/10.1111/ijlh.12087
28. Cabrera N, Moret A, Caunedo P, Cid AR, Vila V, España F, et al. Comparison of a new chemiluminescent immunoassay for von Willebrand factor activity with the ristocetin cofactor-induced platelet agglutination method. Haemophilia. 2013;19(6):920–925. Epub 2013 Jun 4. PMID: 23730809. https://doi.org/10.1111/hae.12203
29. de Maistre E, Volot F, Mourey G, Aho LS, Ternisien C, Briquel ME, et al. Performance of two new automated assays for measuring von Willebrand activity:hemosIL AcuStar and innovance. ThrombHaemost. 2014;112(4):825–830. https://doi.org/10.1160/TH14-02-0108
30. World Federation of Hemophilia. Report on the Annual Global Survey. 2017. Available from: https://www1.wfh.org/publications/files/pdf-1714.pdf
31. World Federation of Hemophilia. Report on the Annual Global Survey. 2018. Available from: https://www1.wfh.org /publications/files/pdf-1731.pdf
##submission.downloads##
Жарыяланганы
Як цитувати
Номер
Розділ
