Diagnosis Penyakit Von Willebrand

Oleh :

dr. Inge Nandya H

Diagnosis penyakit von Willebrand atau yang dikenal von Willebrand Disease (VWD) sulit ditentukan sebab mayoritas pasien tidak menyadari bahwa mereka mempunyai gejala perdarahan abnormal. Langkah awal dalam mendiagnosa VWD adalah menelusuri riwayat perdarahan abnormal pada pasien dan penyakit herediter dalam keluarga, serta melakukan pemeriksaan screening.[12]

Diagnosis pada VWD di Indonesia ditegakkan dengan temuan abnormal pada kadar VWF:RCo, VWF:Ag, dan ristocetin-induced platelet aggregation (RIPA). Pemeriksaan spesifik lainnya dilakukan untuk menentukan subtipe pada VWD.[32]

Pada praktik klinis, diagnosis dari hasil pemeriksaan laboratorium didasarkan pada penurunan VWF:RCo (atau VWF:CB) (<30 IU/dL), dengan karakterisasi tipe VWD lebih lanjut berdasarkan penilaian VWF:Ag, FVIII:C dan pola multimer. VWF:Ag di bawah 30 U/dL telah terbukti berkaitan dengan keparahan klinis yang signifikan dan adanya mutasi pada gen VWF.[12,15]

Anamnesis

Referensi

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/
7. Sabih A and Babiker H. von Willebrand disease. Statpearls, 2021. https://www.statpearls.com/ArticleLibrary/viewarticle/31270.
9. Pollack ES, Nagalla S, Conrad ME, Krishnan K, Stein S, Telavera F. von Willebrand disease clinical presentation. Medscape, 2021. https://emedicine.medscape.com/article/206996-clinical#b1.
12. Nazzaro AM, Philipp CS, James AH. von Willebrand disease. Rare Disease Database, 2021. https://rarediseases.org/rare-diseases/von-willebrand-disease/.
14. Holm E, Osooli M, Carlsson KS, Berntorp E. Cardiovascular disease-related hospitalization and mortality among persons with von Willebrand disease: A nationwide register study in Sweden. Haemophilia. 2018;25(1):109-15.
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
16. Moonla C, Akkawat B, Kittikalayawong Y, Sukperm A, Meesanun M, Uaprasert N, Sosothikul D, Rojnuckarin P. Bleeding symptoms and von Willebrand factor levels: 30-year experience in a tertiary care center. Clin Appl Thromb Hem. 2019. https://doi.org/10.1177%2F1076029619866916.
17. James PD, Connell NT, Ameer B, Paola JD, Eikenboom J, Giraud N, Haberichter S, Jacobs-Pratt V, Konkle B, McLintock C, et al. ASH ISTH NHF WFH 2021 guidelines on the diagnosis of von Willebrand disease. Blood Adv. 2021;5(1): DOI 10.1182/bloodadvances.2020003265.
18. Boender J, Kruip MJHA, Leebeek FWG. A diagnostic approach to mild bleeding disorders. 2016;14(8):1507-16. doi: 10.1111/jth.13368.
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.
24. Collone 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;12:755-68. https://doi.org/10.2147/JBM.S266791.
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.
26. Ardillon L, Ternisien C, Fouassier M, Sigaud M, Lefrancois A, Pacault M, Ribeyrol O, Fressinaud E, Boisseau P, Trossaert M. Platelet function analyser (PFA-100) results and von Willebrand factor deficiency: a 16-year ‘real-world’ experience. Haemophilia. 2015;21:646-52. DOI: 10.1111/hae.12653.
27. Favaloro EJ. Utility of the platelet function analyser (PFA-100/200) for exclusion or detection of von Willebrand disease: A study 22 years in the making. 2020;188:17-24. https://doi.org/10.1016/j.thromres.2020.01.029.
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.
29. Fasulo MR, Biguzzi E, Abbattista M, Stufano F, Pagliari MT, Mancini I, et al. The ISTH Bleeding Assessment Tool and the risk of future bleeding. J Thromb Haemost. 2018;16:125-30. DOI: 10.1111/jth.13883.
30. Kalot MA, Husainat M, Tayiem S, Alayli AE, Dimassi AB, Diab O, Abughanimeh O, Madoukh B, Qureini A, Ameer B, et al. Bleeding assessment tools in the diagnosis of VWD in adults and children: a systematic review and meta-analysis of test accuracy. Blood Adv. 2021;5(23):5023-31.
31. Spradbrow J, Letourneau S, Grabell J, Liang Y, Riddel J, Hopman W, Blanchette VS, Rand ML, Coller BS, Paterson AD, et al. Bleeding assessment tools to predict von Willebrand disease: Utility of individual bleeding symptoms. Res Pract Thromb Haemost. 2019;00:1-8. DOI: 10.1002/rth2.12256.
32. Arif M. Laboratory diagnosis of von Willebrand’s disease. Indones Biomed J. 2019;1(3)57-64. DOI: 10.18585/inabj.v1i3.100.
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

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