PO162 | A RARE CASE OF PLATELET DISORDER MIMICKING HEMOPHILIA A

M. Shani, T. Goxhaj | Mother Theresa University Hospital, Università Nostra Signora Dell Buon Consiglio, Tirana, Albania

Background. Congenital platelet function disorders can occasionally present with severe bleeding phenotypes resembling hemophilia A, leading to diagnostic confusion. We report a rare case of Glanzmann thrombasthenia (GT) presenting with hemophilia like bleeding and normal coagulation factor VIII levels.
Case Presentation. A 12-year-old boy presented with recurrent hemarthroses and mucocutaneous bleeding since early childhood. Initial workup suggested hemophilia A, but factor VIII levels were normal. Platelet aggregation studies revealed absent aggregation with ADP, collagen, and epinephrine, confirming Glanzmann thrombasthenia. Genetic testing identified a homozygous ITGA2B mutation. Clinical Features; Recurrent hemarthroses of knees and elbows; Frequent epistaxis and gingival bleeding; No history of hematologic malignancy or liver disease. Laboratory Investigations; Complete blood count: Hemoglobin 12.1 g/dL, WBC 6.5 × 10⁹/L, platelets 210 × 10⁹/L; Coagulation profile: PT 12.5 s (normal), aPTT 32 s (normal); Factor VIII activity: 110% (normal); von Willebrand factor (vWF) antigen: 95% (normal); Platelet function analysis: Absent aggregation with ADP, collagen, and epinephrine; normal ristocetin-induced aggregation. Genetic Testing Targeted sequencing revealed a homozygous pathogenic variant in ITGA2B (c.1774G>A, p.Glu592Lys), confirming Glanzmann thrombasthenia.
Discussion. Glanzmann thrombasthenia is a rare autosomal recessive disorder (~1:1,000,000) characterized by defective platelet aggregation . Most patients present with mucocutaneous bleeding; however, severe GT can mimic hemophilia A or B, particularly when hemarthroses occur. Differential Diagnosis; Hemophilia A/B: Normal factor VIII and IX levels excluded this; Other platelet function disorders: Bernard-Soulier syndrome presents with thrombocytopenia and giant platelets, unlike GT; Acquired platelet disorders: Excluded by history and family screening. Diagnostic Approach; Platelet aggregation testing: Gold standard for GT diagnosis. Absence of aggregation with ADP, collagen, and epinephrine, and normal ristocetin response, is diagnostic [4]; Flow cytometry: Detects αIIbβ3 integrin expression; Genetic testing: Confirms mutation, informs prognosis, and facilitates genetic counseling. Management: Bleeding prophylaxis: Local measures, antifibrinolytics, recombinant factor VIIa; Surgery: Prophylactic recombinant factor VIIa or platelet transfusions; Gene therapy: Under investigation, not yet standard [5]. Early recognition prevents misdiagnosis, avoids unnecessary factor replacement therapy, and allows appropriate family counseling.
Conclusions. Severe platelet function disorders can mimic coagulation factor deficiencies. Early recognition is essential to avoid inappropriate therapy and to guide genetic counseling and management.