Late Diagnosis of von Willebrand Disease in a Child and His Relatives: Case Study

Background. Von Willebrand disease is a pathology of hemostatic system characterized by deficiency or functional abnormality of the protein involved in blood clotting process. Hemorrhagic syndrome is the major clinical sign for all disease forms. Its diagnosis can be difficult in cases of minimal clinical manifestations. Case presentation. A girl, 9 years old, had complaints on frequent nasal hemorrhages since the age of 3. Adenectomy and tonsillectomy were performed at the age of 7 years. Uncontrollable hemorrhage from the postoperative wound has occurred on the next day, that required fresh frozen plasma transfusion for hemostasis. Family medical history has shown that patient’s mother has long-term heavy menorrhagia, episode of moderate bleeding at the age of 18 after tonsillectomy, episode of bleeding during delivery (stopped by fresh frozen plasma transfusion), and spontaneous ecchymoses. The maternal grandmother had episode of delayed profuse bleeding from alveolar socket the day after dental extraction. No studies to identify hemorrhagic syndrome causes in close relatives were conducted. Examination has revealed deficiency in von Willebrand factor antigen (up to 19%, normal values are 74–111%). Conclusion. Children burdened family history and with/no hemorrhagic syndrome signs and are indicated for laboratory examination to determine the von Willebrand factor antigen, whereas its deficiency or abnormality is one of the most common causes of bleeding disorders in children.

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