Bernard-Soulier syndrome or idiopathic thrombocytopenic purpura: A case series

Abstract

Background: Bernard-Soulier syndrome (BSS) is a rare, autosomal recessive platelet function disorder which is commonly mistaken for idiopathic thrombocytopenic purpura (ITP).The report includes seven cases of BSS that have been diagnosed and treated as ITP for a long time. Methods: Between 2006 and 2016, data of seven BSS patients who have long been diagnosed and treated as ITP were collected and analyzed. Results: Two patients were males and 5 were females. The patient's age range was between one day and four years at the onset of symptoms. Easy bruising, nose bleeds and mucocutaneous bleeding were the most frequent symptoms. Bleeding attacks of the gum, gastrointestinal tract and menorrhagia also occurred and in one case bleeding in the injection site of the first vaccination was reported. In 6 patients, parents were relatives and in three cases, there was a family history of low platelet counts. Variable thrombocytopenia, prolonged bleeding time (BT), and large platelets with increased bone marrow megakaryocyte were seen in all cases. Most patients were treated with steroids, Intravenous immunoglobulin (IVIG), and some with IV anti-D, Azathioprine, Danazol, Rituximab. Splenectomy was performed in one case. In supplementary tests the platelet aggregation to ristocetin was absent and GPIb expression level by flow cytometry method was lower than 10. Conclusion: BSS should always be considered in differential diagnosis of ITP especially in persistent and refractory ITP.