biostudies-literatureDiGiandomenico SU.S. Department of Health and Human ServicesNational Heart, Lung, and Blood InstituteNHLBI NIH HHSMidwest Athletes Against Childhood Cancer131-138https://www.ebi.ac.uk/biostudies/studies/S-EPMC7790985biostudies-literatureUnknown19(1)Essentials Patients with von Willebrand disease were enrolled in our study. Type 2 VWD diagnoses were based on original test results. Repeat evaluation resulted in many patients receiving a different type 2 diagnosis. Some genetic variants were particularly likely to move type 2 subcategories. ABSTRACT: Introduction Type 2 von Willebrand disease (VWD) refers to patients with a qualitative defect in von Willebrand factor. Accurate diagnosis of type 2 VWD subtypes can be challenging. Aim of the study To compare the historical diagnosis of type 2 VWD with current laboratory testing. Methods Subjects were enrolled in the Zimmerman Program either because of a preexisting diagnosis of VWD (retrospective cohort) or from evaluation for bleeding symptoms or suspected VWD (prospective cohort). OrigiJournal of thrombosis and haemostasis : JTHLaboratory variability in the diagnosis of type 2 VWD variants.PMC7790985HL136430R01 HL112614HL081588HL126810R01 HL136430R01 HL126810HL144457P01 HL144457P01 HL081588HL112614R01 HL139847Ragni MKonkle BBrown DAbshire TGill JTarantino MZimmerman Program InvestigatorsChristopherson PAJames PLillicrap DWerner EDiGiandomenico SAbshire TCShapiro AKulkarni RPaola JDGruppo RJourneycake JSharathkumar AHord JDiMichele DSinger TShafer FMontgomery RRValentino LBedros AMathias LPaidas MDunn AKerlin BDiamond CHoots WKManco-Johnson MFlood VHStein DRajpurkar MLeissinger CLentz SCuker ABoggio LNeff ABennett CHaberichter SLMatsunaga ALusher JParoskie AKouides PMa ACohen AMahoney DGiardina PRoberts JfalseLaboratory variability in the diagnosis of type 2 VWD variants.Essentials Patients with von Willebrand disease were enrolled in our study. Type 2 VWD diagnoses were based on original test results. Repeat evaluation resulted in many patients receiving a different type 2 diagnosis. Some genetic variants were particularly likely to move type 2 subcategories. ABSTRACT: Introduction Type 2 von Willebrand disease (VWD) refers to patients with a qualitative defect in von Willebrand factor. Accurate diagnosis of type 2 VWD subtypes can be challenging. Aim of the study To compare the historical diagnosis of type 2 VWD with current laboratory testing. Methods Subjects were enrolled in the Zimmerman Program either because of a preexisting diagnosis of VWD (retrospective cohort) or from evaluation for bleeding symptoms or suspected VWD (prospective cohort). Origi2021-01-01T00:00:00Z2021 Jan2025-04-21T21:35:10.132Z2022-02-11T13:38:01.34ZS-EPMC77909853304911210.1111/jth.15129