title: The impact of bleeding history, von Willebrand factor and PFA-100(®) on the diagnosis of type 1 von Willebrand disease: results from the European study MCMDM-1VWD.
abstract: The relationships between the Platelet Function Analyzer (PFA)-100 and von Willebrand factor (VWF) levels and bleeding score (BS) were evaluated within a multicentre project on Molecular and Clinical Markers for the Diagnosis and Management of type 1 von Willebrand disease (MCMDM-1VWD). PFA-100 closure time, either with epinephrine (EPI) or adenosine diphosphate (ADP)-cartridges, was measured in 107 index cases, 105 affected and 71 unaffected family members, and 79 healthy controls. By regression analysis VWF levels were strongly related to both closure times, with a non-linear progression. In a multiple stepwise regression model, age- and sex-adjusted PFA-100 ADP and VWF ristocetin cofactor activity (VWF:RCo) were independently associated with BS. Most of the variation of BS was predicted by PFA-100 ADP and VWF:RCo alone. In the subgroup of patients with subtle abnormalities of the multimeric pattern, VWF was invariably reduced and closure time prolonged in almost all of them. Neither PFA-100 ADP nor EPI closure times appeared to significantly improve the diagnostic capability of VWF antigen (VWF:Ag) measurement. Thus, in an unselected population a normal PFA-100 would be useful to exclude VWD, but whether it could replace the more specific VWF assay in patients with significant mucocutaneous bleeding symptoms remains to be investigated prospectively.
authors.affiliation: Department of Haematology, San Bortolo Hospital, Vicenza, Italy. castaman@hemato.ven.it
authors.forename: Giancarlo
authors.initials: G
authors.lastname: Castaman
authors.forename: Alberto
authors.initials: A
authors.lastname: Tosetto
authors.forename: Anne
authors.initials: A
authors.lastname: Goodeve
authors.forename: Augusto B
authors.initials: AB
authors.lastname: Federici
authors.forename: Stefan
authors.initials: S
authors.lastname: Lethagen
authors.forename: Ulrich
authors.initials: U
authors.lastname: Budde
authors.forename: Javier
authors.initials: J
authors.lastname: Batlle
authors.forename: Dominique
authors.initials: D
authors.lastname: Meyer
authors.forename: Claudine
authors.initials: C
authors.lastname: Mazurier
authors.forename: Jenny
authors.initials: J
authors.lastname: Goudemand
authors.forename: Jeroen
authors.initials: J
authors.lastname: Eikenboom
authors.forename: Reinhard
authors.initials: R
authors.lastname: Schneppenheim
authors.forename: Jorgen
authors.initials: J
authors.lastname: Ingerslev
authors.forename: David
authors.initials: D
authors.lastname: Habart
authors.forename: Frank
authors.initials: F
authors.lastname: Hill
authors.forename: Ian
authors.initials: I
authors.lastname: Peake
authors.forename: Francesco
authors.initials: F
authors.lastname: Rodeghiero
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D015415:Biomarkers / Q000097:blood; D002648:Child; D002675:Child, Preschool; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D010641:Phenotype; D010979:Platelet Function Tests; D012016:Reference Values; D014842:von Willebrand Diseases / Q000175:diagnosis* / Q000235:genetics; D014841:von Willebrand Factor / Q000032:analysis* / Q000235:genetics
chemical_list: D015415:Biomarkers; D014841:von Willebrand Factor