title: A quantitative analysis of bleeding symptoms in type 1 von Willebrand disease: results from a multicenter European study (MCMDM-1 VWD).
abstract: BACKGROUND
  A quantitative description of bleeding symptoms in type 1 von Willebrand disease (VWD) has never been reported.
  
  
  OBJECTIVE
  The aim was to quantitatively evaluate the severity of bleeding symptoms in type 1 VWD and its correlation with clinical and laboratory features.
  
  
  METHODS
  Bleeding symptoms were retrospectively recorded in a European cohort of VWD type 1 families, and for each subject a quantitative bleeding score (BS) was obtained together with phenotypic tests.
  
  
  RESULTS
  A total of 712 subjects belonging to 144 families and 195 controls were available for analysis. The BS was higher in index cases than in affected family members (BS 9 vs. 5, P < 0.0001) and in unaffected family members than in controls (BS 0 vs. -1, P < 0.0001). There was no effect of ABO blood group. BS showed a strong significant inverse relation with either von Willebrand ristocetin cofactor (VWF:RCo), von Willebrand antigen (VWF:Ag) or factor VIII procoagulant activity (FVIII:C) measured at time of enrollment, even after adjustment for age, sex and blood group (P < 0.001 for all the four upper quintiles of BS vs. the first quintile, for either VWF:RCo, VWF:Ag or FVIII:C). Higher BS was related with increasing likelihood of VWD, and a mucocutaneous BS (computed from spontaneous, mucocutaneous symptoms) was strongly associated with bleeding after surgery or tooth extraction.
  
  
  CONCLUSIONS
  Quantitative analysis of bleeding symptoms is potentially useful for a more accurate diagnosis of type 1 VWD and to develop guidelines for its optimal treatment.
authors.affiliation: San Bortolo Hospital, Vicenza, Italy.
authors.forename: A
authors.initials: A
authors.lastname: Tosetto
authors.forename: F
authors.initials: F
authors.lastname: Rodeghiero
authors.forename: G
authors.initials: G
authors.lastname: Castaman
authors.forename: A
authors.initials: A
authors.lastname: Goodeve
authors.forename: A B
authors.initials: AB
authors.lastname: Federici
authors.forename: J
authors.initials: J
authors.lastname: Batlle
authors.forename: D
authors.initials: D
authors.lastname: Meyer
authors.forename: E
authors.initials: E
authors.lastname: Fressinaud
authors.forename: C
authors.initials: C
authors.lastname: Mazurier
authors.forename: J
authors.initials: J
authors.lastname: Goudemand
authors.forename: J
authors.initials: J
authors.lastname: Eikenboom
authors.forename: R
authors.initials: R
authors.lastname: Schneppenheim
authors.forename: U
authors.initials: U
authors.lastname: Budde
authors.forename: J
authors.initials: J
authors.lastname: Ingerslev
authors.forename: Z
authors.initials: Z
authors.lastname: Vorlova
authors.forename: D
authors.initials: D
authors.lastname: Habart
authors.forename: L
authors.initials: L
authors.lastname: Holmberg
authors.forename: S
authors.initials: S
authors.lastname: Lethagen
authors.forename: J
authors.initials: J
authors.lastname: Pasi
authors.forename: F
authors.initials: F
authors.lastname: Hill
authors.forename: I
authors.initials: I
authors.lastname: Peake
mesh_terms: D000017:ABO Blood-Group System; D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002648:Child; D002675:Child, Preschool; D015331:Cohort Studies; D005060:Europe; D005169:Factor VIII / Q000096:biosynthesis / Q000737:chemistry; D005192:Family Health; D005260:Female; D006470:Hemorrhage / Q000175:diagnosis*; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D010641:Phenotype; D012189:Retrospective Studies; D012310:Ristocetin / Q000737:chemistry; D011795:Surveys and Questionnaires; D014842:von Willebrand Diseases / Q000097:blood / Q000175:diagnosis* / Q000235:genetics*; D014841:von Willebrand Factor / Q000737:chemistry
chemical_list: D000017:ABO Blood-Group System; D014841:von Willebrand Factor; D012310:Ristocetin; D005169:Factor VIII