Type 2B or Pseudo-Platelet type VonWillebrand Disease – Case Report of two Pediatric Patients with Thrombocytopenia.

Abstract

Background:

Von Willebrand Disease (VWD) is the most common inherited bleeding disorder. It typically presents with mucocutaneous bleeding, though more severe hemorrhagic episodes may occur depending on the type and severity.

Type 2B- VWD results from gain-of-function mutations in the VWF gene, which enhances the protein’s affinity for the platelet GPIb, conversely pseudo-platelet type VWD (PT-VWD) has gain of mutation of gp1b, which increases affinity to bind with VWF antigen. Both are rare subtypes with concurrent low platelet counts, accounting for approximately 5% of VWD cases.

Case Presentation: We report two cases with bleeding diathesis and thrombocytopenia. The first case was four-year-old male, diagnosed immune thrombocytopenia (ITP) for 3 years of age with recurrent epistaxis and normal bone marrow biopsy findings. Despite multiple treatment modalities, his platelet count showed no significant improvement. Second case was 6 months old male baby presented with Melena, epistaxis, Anemic failure and Malaria vivax. Initially, he was treated for malaria parasite, later evaluated for bleeding disorder due to uncontrolled bleed and thrombocytopenia.

The patients had normal platelet morphology, prolonged activated partial thromboplastin time (APTT), bleeding time (BT) and normal Factor VIII level. Both cases received platelets transfusion as routine therapy in emergency, showed no clinical response. After consultation with a hematologist, 2B-VWD considered as administration of VWF concentrates showed significant response to treatment which supported diagnosis of 2B-VWD. However, PT-VWD responds with platelets transfusion, which was not observed in both cases.

Conclusion: This report discloses the diagnostic reappraisal of Immune thrombocytopenic purpura with Von Willebrand disease qualitative defect and early diagnostic consideration in 6-month patient. Different treatment approach applies to each entity: type 2B VWD patients can be treated with supplementary VWF, while PT-VWD patients need platelet transfusions.