International Journal of Hematology and Oncology
2023, Vol 33, Num 4 Page(s): 111-114
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Co-existing mild Haemophilia A with Mild Type 1 Von Willebrand Disease: Case Report
Mehmet AKIN1, Deniz Yilmaz KARAPINAR1, Can BALKAN1, Yilmaz AY1, Kaan KAVAKLI1
EgeUniversity Faculty of Medicine, Department of Pediatric Hematology, Izmir, TURKEY
Keywords: Haemophilia, Von Willebrand disease
Von Willebrand disease and haemophilia A are the two most common inherited bleeding disorders. Despite the relatively high frequency of those two bleeding disorders in the general population, reports of their coexistence together or of combined coagulopathies in general are rare. We describe a 1-year-old male with confirmed mild haemophilia A co-existing with mild type 1 VWD. The 1- year old male was admitted to our hospital with a history of excessive bleeding following circumcision. Initial laboratory evaluation revealed a prolonged activated partial thromboplastin time (APTT) of 46.2 s (normal range 23.2-34.7), and low FVIII activity level of 5.5% of normal. His subsequent evaluation, was also consistent with mild type 1 VWD with a decreased VWF antigen (VWF:Ag) of 50%, decreased ristocetin cofactor activity (VWF:RCo) of 44%. The DNA testing detected a C2 domain R2304H mutation of the FVIII gene.
We believe that the co-existence of VWD and haemophilia A is underappreciated, under-diagnosed, and under-reported.
Mehmet AKIN1, Deniz Yilmaz KARAPINAR1, Can BALKAN1, Yilmaz AY1, Kaan KAVAKLI1
EgeUniversity Faculty of Medicine, Department of Pediatric Hematology, Izmir, TURKEY
Keywords: Haemophilia, Von Willebrand disease
Von Willebrand disease and haemophilia A are the two most common inherited bleeding disorders. Despite the relatively high frequency of those two bleeding disorders in the general population, reports of their coexistence together or of combined coagulopathies in general are rare. We describe a 1-year-old male with confirmed mild haemophilia A co-existing with mild type 1 VWD. The 1- year old male was admitted to our hospital with a history of excessive bleeding following circumcision. Initial laboratory evaluation revealed a prolonged activated partial thromboplastin time (APTT) of 46.2 s (normal range 23.2-34.7), and low FVIII activity level of 5.5% of normal. His subsequent evaluation, was also consistent with mild type 1 VWD with a decreased VWF antigen (VWF:Ag) of 50%, decreased ristocetin cofactor activity (VWF:RCo) of 44%. The DNA testing detected a C2 domain R2304H mutation of the FVIII gene.
We believe that the co-existence of VWD and haemophilia A is underappreciated, under-diagnosed, and under-reported.
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