Table 1.
Demographic data of the cohort of patients.
Fig 1.
Evaluation of the contribution of different laboratory steps in the diagnosis definition.
Four different successive laboratory assessment steps are considered. The progress in the diagnostic definition of the patients according to each step is shown. After the first and second steps, the multimeric analysis (MA) was of great significance in the diagnosis definition of 83 additional patients. Moreover, MA was in agreement with the diagnostic definition accomplished in steps 1 and 2 (179 patients). Finally, MA was also in agreement with the diagnostic definition achieved by molecular analysis in 186 additional patients. Thus, MA contributed to the diagnosis definition in a total of 448 (93.3%) patients.
Fig 2.
Comparison between the diagnostic definition contribution of VWF:CB (in step “screening tests” [a]) and the multimeric analysis (MA) instead of VWF:CB first step, (step “screening tests” [b]). A greater degree of efficiency was observed for MA (50.4% versus 33.1% for VWF:CB).
Fig 3.
Distribution of patients according to their coincidence between ratios and multimeric analysis before genetic study and between multimeric analysis and mutation after genetic study.
Of 110 patients with some type of discrepancy, in 76 (48 + 28) the MA was in line with the molecular study while in 18 (14+4) patients there was not concordance. In the remaining 16, the similarity could not be demonstrated because the mutation found has not been described previously.
Table 2.
Patients with discordance between VWF:RCo/VWF:Ag-VWF:CB/VWF:Ag-multimeric pattern.
Table 3.
Patients with consistency between VWF:RCo/VWF:Ag-VWF:CB/VWF:Ag-multimeric pattern but not with genetic analysis.
Fig 4.
Multimeric analysis of von Willebrand factor (VWF) in low-resolution SDS-agarose gels in patients with type 2A VWD and some discrepancy.
VWF from platelet lysate (NPt), plasmas of a normal subject (NP), patients with type 2A VWD and a patient with VWD type 2A (IIA) used as a control 2A are shown. (a-b): Patients with discrepancy between ratios and multimeric analysis; (c-d): Patients re-classified as type 2A on the basis of the genetic study.
Fig 5.
Multimeric analysis of von Willebrand factor (VWF) in low-resolution SDS-agarose gels in patients with type 2A/2M VWD and some discrepancy.
VWF from platelet lysate (NPt), plasmas of a normal subject (NP), patients with type 2A/2M VWD and a patient with VWD type 2A (IIA) used as a control 2A are shown. (a-c) Patients that showed discrepancy between ratios and multimeric analysis. In the case of the patients C30P012F07, C30P013F08 and C37P003F03 the mutations had not been described previously and the multimeric analysis (smeary) was of great significance to establish the diagnosis.