Refractory thrombotic thrombocytopenic purpura: A case report

Abstract

Introduction: Thrombotic thrombocytopenic purpura is a life-threatening condition caused by severe ADAMTS13 deficiency, characterized by microthrombi, microangiopathic hemolytic anemia, and thrombocytopenia. Timely diagnosis is crucial. Objective: To present a case of acquired thrombotic thrombocytopenic purpura with an atypical, refractory course, detailing clinical, laboratory, and imaging findings, as well as therapeutic management. Methodology: A case report of a female patient with refractory acquired thrombotic thrombocytopenic purpura who received stepwise intensive immunosuppressive treatment until remission was achieved. Result: A 39-year-old woman presented with dyspnea, headache, ecchymosis, and transient aphasia, initially suspected of transient ischaemic attack and pulmonary thromboembolism. Key findings included severe anemia (Hb 6.5 g/dL), thrombocytopenia (24,000/µL), elevated LDH, schistocytes, and ADAMTS13 <6%. Therapeutic plasma exchange and corticosteroids were initiated. Following a partial initial response, she relapsed with severe thrombocytopenia and acute cerebral infarction. Treatment was intensified by increasing therapeutic plasma exchange frequency and adding rituximab and cyclophosphamide. Hematological normalization and clinical stability were achieved after 23 therapeutic plasma exchange sessions. Discussion: This case highlights the diagnostic and management challenges of refractory immune-mediated thrombotic thrombocytopenic purpura with neurological manifestations. Treatment resistance necessitated multimodal immunosuppression and intensified therapeutic plasma exchange. Lack of access to caplacizumab was a notable therapeutic limitation. Early recognition, timely treatment, and close hematological follow-up are essential to improve prognosis and reduce the risk of relapse.