Early diagnosis of persons with von Willebrand disease using a machine learning algorithm and real-world data

References

• Castaman G, Linari S. Obstacles to early diagnosis and treatment of inherited von Willebrand disease: current perspectives. J Blood Med. 2021;12:165–175. doi: 10.2147/JBM.S232758
   PubMed Web of Science ®Google Scholar
• Favaloro EJ. Rare forms of von Willebrand disease. Ann Transl Med. 2018;6(17):345. doi: 10.21037/atm.2018.09.10
   PubMed Web of Science ®Google Scholar
• James PD, Connell NT, Ameer B, et al. ASH ISTH NHF WFH 2021 guidelines on the diagnosis of von Willebrand disease. Blood Adv. 2021;5(1):280–300. doi: 10.1182/bloodadvances.2020003265
   PubMed Web of Science ®Google Scholar
• Lavin M, O’Donnell JS. How I treat low von Willebrand factor levels. Blood. 2019;133(8):795–804. doi: 10.1182/blood-2018-10-844936
   PubMed Web of Science ®Google Scholar
• Colonne CK, Reardon B, Curnow J, et al. 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. doi: 10.2147/JBM.S266791
   PubMed Web of Science ®Google Scholar
• Sidonio RF Jr, Zia A, Fallaize D. Potential undiagnosed VWD or other mucocutaneous bleeding disorder cases estimated from private medical insurance claims. J Blood Med. 2020;11:1–11. doi: 10.2147/JBM.S224683
   PubMed Web of Science ®Google Scholar
• Roberts JC, Kulkarni R, Kouides PA, et al. Healthcare utilization and health related quality of life in persons with von Willebrand disease. Blood. 2020;136(Supplement 1):3–4. doi: 10.1182/blood-2020-143055
   PubMedGoogle Scholar
• Sidonio RF, Haley KM, Fallaize D. Impact of diagnosis of von Willebrand disease on patient outcomes: analysis of medical insurance claims data. Haemophilia. 2017;23(5):743–749. doi: 10.1111/hae.13292
   PubMed Web of Science ®Google Scholar
• Atiq F, Saes JL, Punt MC, et al. Major differences in clinical presentation, diagnosis and management of men and women with autosomal inherited bleeding disorders. EClinicalMedicine. 2021;32:100726. doi: 10.1016/j.eclinm.2021.100726
   PubMedGoogle Scholar
• Nichols WL, Hultin MB, James AH, et al. von Willebrand disease (VWD): evidence-based diagnosis and management guidelines, the National Heart, Lung, and Blood Institute (NHLBI) Expert Panel report (USA) 1. Haemophilia. 2008;14(2):171–232. doi: 10.1111/j.1365-2516.2007.01643.x
   PubMed Web of Science ®Google Scholar
• Ragni MV, Machin N, Malec LM, et al. Von Willebrand factor for menorrhagia: a survey and literature review. Haemophilia. 2016;22(3):397–402. doi: 10.1111/hae.12898
   PubMed Web of Science ®Google Scholar
• Kirtava A, Crudder S, Dilley A, et al. Trends in clinical management of women with von Willebrand disease: a survey of 75 women enrolled in haemophilia treatment centres in the United States. Haemophilia. 2004;10(2):158–161. doi: 10.1046/j.1351-8216.2003.00832.x
   PubMed Web of Science ®Google Scholar
• Baronciani L, Peyvandi F. How we make an accurate diagnosis of von Willebrand disease. Thromb Res. 2020;196:579–589. doi: 10.1016/j.thromres.2019.07.010
   PubMed Web of Science ®Google Scholar
• James PD, Goodeve AC. von Willebrand disease. Genet Med. 2011;13(5):365–376. doi: 10.1097/GIM.0b013e3182035931
   PubMed Web of Science ®Google Scholar
• Lee SJ. Re: Request for new ICD-10-CM codes for von Willebrand disease. 2020 [cited 2022 Dec 12]. Available from: https://www.hematology.org/-/media/hematology/files/advocacy/testimony-and-correspondence/2020/ash-letter-re-wvd-icd-10-codes.pdf
   Google Scholar
• Schaefer J, Lehne M, Schepers J, et al. The use of machine learning in rare diseases: a scoping review. Orphanet J Rare Dis. 2020;15(1):145. doi: 10.1186/s13023-020-01424-6
   PubMed Web of Science ®Google Scholar
• Konrad R, Zhang W, Bjarndottir M, et al. Key considerations when using health insurance claims data in advanced data analyses: an experience report. Health Syst (Basingstoke). 2019;9(4):317–325. doi: 10.1080/20476965.2019.1581433
   PubMedGoogle Scholar
• Komodo. Healthcare map: the most complete view of the patient. 2022 [cited 2022 Dec 12]. Available from: https://www.komodohealth.com/technology/healthcare-map
   Google Scholar
• Baser O, Samayoa G, Yapar N, et al. Use of open claims vs closed claims in health outcomes research. J Health Econ Outcomes Res. 2023;10(2):44–52. doi: 10.36469/jheor.2023.87538
   PubMedGoogle Scholar
• Roberts JC, Christopherson PA, Morateck PA, et al. A von Willebrand factor (VWF) functional screening assay and its correlation with conventional clinical assays of VWF function. Blood. 2014;124(21):4239. doi: 10.1182/blood.V124.21.4239.4239
   Web of Science ®Google Scholar
• Bucciarelli P, Siboni SM, Stufano F, et al. Predictors of von Willebrand disease diagnosis in individuals with borderline von Willebrand factor plasma levels. J Thromb Haemost. 2015;13(2):228–236. doi: 10.1111/jth.12799
   PubMed Web of Science ®Google Scholar
• Brown MC, White MH, Friedberg R, et al. Elevated von Willebrand factor levels during heavy menstrual bleeding episodes limit the diagnostic utility for von Willebrand disease. Res Pract Thromb Haemost. 2021;5(4):e12513. doi: 10.1002/rth2.12513
   PubMed Web of Science ®Google Scholar
• Djukic SM, Lekovic D, Jovic N, et al. Unnecessary hysterectomy due to menorrhagia and disorders of hemostasis: an example of overuse and excessive demand for medical services. Front Pharmacol. 2016;7:507. doi: 10.3389/fphar.2016.00507
   PubMed Web of Science ®Google Scholar
• Guncar G, Kukar M, Notar M, et al. An application of machine learning to haematological diagnosis. Sci Rep. 2018;8(1):411. doi: 10.1038/s41598-017-18564-8
   PubMedGoogle Scholar
• Roberts JC, Malec LM, Halari I, et al. Bleeding patterns in patients before and after diagnosis of von Willebrand disease: analysis of a US medical claims database. Haemophilia. 2022;28(1):97–108. doi: 10.1111/hae.14448
   PubMed Web of Science ®Google Scholar
• Jacobson AE, Vesely SK, Koch T, et al. Patterns of von Willebrand disease screening in girls and adolescents with heavy menstrual bleeding. Obstet Gynecol. 2018;131(6):1121–1129. doi: 10.1097/AOG.0000000000002620
   PubMedGoogle Scholar
• Spradbrow J, Letourneau S, Grabell J, et al. Bleeding assessment tools to predict von Willebrand disease: utility of individual bleeding symptoms. Res Pract Thromb Haemost. 2020;4(1):92–99. doi: 10.1002/rth2.12256
   PubMed Web of Science ®Google Scholar