As a Rare Disease Bernard–Soulier Syndrome in Differential Diagnosis of Immune Thrombocytopenic Purpura: A Case Report

Abstract

Introduction: Bernard–Soulier syndrome is a rare autosomal recessive disease that causes a deficiency of glycoprotein Ib, the receptor for von Willebrand factor, which is important for clot formation. It is estimated to occur in fewer than 1 per 1 million persons. The differential diagnosis includes von Willebrand disease, immune thrombocytopenic purpura, May–Hegglin anomaly, thrombocytopenia-absent radius syndrome, grey platelet syndrome, and other inherited giant platelet disorders. Case Presentation: A 30-year-old Turkish woman was admitted to the Department of Heamatology for evaluation of thrombocytopenia. Because she had repeated epistaxis during admission, she was assessed to evaluate for haemorrhagic diathesis. She had been diagnosed with immune thrombocytopenic purpura and given steroid therapy at different times. Peripheral blood smear was characterized by neutrophils 75%, lymphocytes 20%, monocytes 5%, giant platelets and platelets forming three to four clusters, a normal red blood cell morphology. A decreased ristocetin-induced platelet aggregation was detected in low and high concentration. On the basis of these findings, Bernard–Soulier syndrome was screened with flow cytometry and genetic mutation. CD41a 86.2%, CD42a 92.9%, CD42b 92.5%, and CD61 87.8% were detected in flow cytometry. Normal platelet GPIb/IX levels by flow cytometry turned down the suspected diagnosis. genetic analysis, we have applied to our patient and her parents. We detected same mutation in patient and her mother. Laboratuar parameters and flow cytometry of mother did not support diagnosis of Bernard–Soulier syndrome. Conclusion: Bernard–Soulier syndrome should be considered before a young patient is diagnosed with immune thrombocytopenia purpura and peripheral blood smear should be examined for giant platelets.