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.
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.
Castaman
Giancarlo
G
Department of Haematology, San Bortolo Hospital, Vicenza, Italy. castaman@hemato.ven.it
Tosetto
Alberto
A
Goodeve
Anne
A
Federici
Augusto B
AB
Lethagen
Stefan
S
Budde
Ulrich
U
Batlle
Javier
J
Meyer
Dominique
D
Mazurier
Claudine
C
Goudemand
Jenny
J
Eikenboom
Jeroen
J
Schneppenheim
Reinhard
R
Ingerslev
Jorgen
J
Habart
David
D
Hill
Frank
F
Peake
Ian
I
Rodeghiero
Francesco
F
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
D015415:Biomarkers; D014841:von Willebrand Factor