Resemblance to vWD types and laboratory diagnosis of obligatory carriers of type 3 von Willebrand disease.
OBJECTIVE
It is important to diagnose obligatory carrier (OC) type 3 von Willebrand Disease (vWD) in countries, such as Turkey, where marriages between relatives is common. However, mild bleeding or no bleeding in such patients complicates the diagnosis of the disease. It is not clear how the diagnosis of OC type 3 vWD will be made based on FVIII:C (Factor VIII activity), vWF:Ag (von Willebrand factor antigen), vWF:RCo (von Willebrand factor ristocetin cofactor activity), and PFA (platelet function analyzer )-100 parameters. Therefore, the purpose of the study is to investigate how OC type 3 vWD diagnoses may be established by studying laboratory phenotypes of close relatives of patients with diagnosed 3 vWD.


METHODS
8 patients with type 3 vWD (index cases) and 20 patients who were defined as OCs type 3 vWD were enrolled into the study.


RESULTS
10 cases had similarity with mild type VWD, 4 cases had similarity with moderate type 1 vWD, 4 other cases had type 1 or 2 vWD similarities, 1 case had similarity with severe type 1 vWD, and 1 case also had similarity with severe type 1 or type 2 vWD; regarding their laboratory phenotypic characteristics.


CONCLUSIONS
we identified that OC type 3 vWD is similar specifically to type 1 vWD in terms of laboratory phenotypic character, and we suggest that it may be used with PFA-100 as an easy and fast method in screening relatives.
Akin
Mehmet
M
Department of Pediatric Hematology, Ege University Faculty of Medicine, Izmir, Turkey. drmehmetakin@yahoo.com.tr
Karapinar
Deniz Yilmaz
DY
Balkan
Can
C
Ay
Yilmaz
Y
Kavakli
Kaan
K
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D005169:Factor VIII / Q000378:metabolism; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D055815:Young Adult; D056729:von Willebrand Disease, Type 3 / Q000145:classification* / Q000175:diagnosis* / Q000378:metabolism; D014841:von Willebrand Factor / Q000378:metabolism
D014841:von Willebrand Factor; D005169:Factor VIII