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July 1, 1986American Journal of Hematology

Investigation of a case of subtype IIC von Willebrand disease: Characterization of the variability of this subtype

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Population

19-year-old woman with a severe bleeding syndrome and her family members (5 from the maternal side)

Design

Case_report

Authors

CMClaudine MazurierSouth Australia Pathology
Pier Mannuccio Mannucci
Pier Mannuccio MannucciUniversità Cattolica del Sacro Cuore
APA Parquet-GernezInserm

Discussion

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Implication

Alerts clinicians to possible DDAVP nonresponse in type IIC vWD variants; leaves open broader phenotypic classification requiring further study.

Structured PICO

P
Population
19-year-old woman with a severe bleeding syndrome and her family members (5 from the maternal side)
I
Intervention
Characterization of von Willebrand factor (vWF) using crossed immunoelectrophoresis (CIE), SDS-agarose electrophoresis, and DDAVP administration
O
Outcome
Characterization of vWF multimeric structure and phenotypic variabilitysurrogate

This case report identifies phenotypic variability in subtype IIC von Willebrand disease, notably a low level of platelet vWF:Ag and a lack of vWF increase following DDAVP administration.

Cite This Study

Mazurier et al. (1986) studied this question.

synapsesocial.com/papers/6a70d828febe604dd7099e2bhttps://doi.org/10.1002/ajh.2830220311
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Factor VIII-related protein circulates in normal human plasma as high molecular weight multimers1980 · 231 citations
  2. 2Immunoradiometric Assay of Factor VIII: Coagulant Antigen using Four Human Antibodies. Study of 27 Cases of Haemophilia A1981 · 37 citations
  3. 3A variant of von Willebrand's disease characterized by recessive inheritance and missing triplet structure of von Willebrand factor multimers1983 · 48 citations
  4. 4Improved Characterization of Plasma von Willebrand Factor Heterogeneity when Using 2.5% Agarose Gel Electrophoresis1986 · 25 citations
  5. 5Von Willebrand factor multimer patterns in von Willebrand's disease1983 · 84 citations