A quantitative analysis of bleeding symptoms in type 1 von Willebrand disease: results from a multicenter European study (MCMDM-1 VWD).
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.
Tosetto
A
A
San Bortolo Hospital, Vicenza, Italy.
Rodeghiero
F
F
Castaman
G
G
Goodeve
A
A
Federici
A B
AB
Batlle
J
J
Meyer
D
D
Fressinaud
E
E
Mazurier
C
C
Goudemand
J
J
Eikenboom
J
J
Schneppenheim
R
R
Budde
U
U
Ingerslev
J
J
Vorlova
Z
Z
Habart
D
D
Holmberg
L
L
Lethagen
S
S
Pasi
J
J
Hill
F
F
Peake
I
I
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
D000017:ABO Blood-Group System; D014841:von Willebrand Factor; D012310:Ristocetin; D005169:Factor VIII