Thrombotic Thrombocytopenic Purpura: Diagnostic Challenges (Literature Review and Case Report)

Introduction. Thrombotic thrombocytopenic purpura (TTP) is a rare but life-threatening thrombotic microangiopathy characterized by microangiopathic hemolytic anemia, thrombocytopenia, and organ ischemia due to microvascular thrombi. Its pathophysiology primarily involves a severe deficiency of the ADAMTS13 enzyme, leading to uncontrolled platelet aggregation and microthrombi formation. TTP presents with nonspecific symptoms: fatigue, petechiae, neurological disturbances, renal impairment, and fever, often mimicking other conditions. Advances in diagnosis, and targeted therapies like caplacizumab, plasma exchange, and immunosuppression have significantly reduced mortality rates from over 90.0 % to approximately 10.0-20.0 %. Still challenges remain in early diagnosis, treatment accessibility, and management. The aim of the study. Using the case report of TTP to demonstrate the recent achievements in understanding of pathogenesis, and treatment of this severe condition. Materials and methods. A systematic review was conducted for the period from 01.01.2014 to 01.11.2024 using methods of the National Library of Health (NIH). Filters applied: TTP, Free full text, Review. Of the 183 sources received, we selected and analyzed 17 and 2 articles (1982 and 1998) were used for historical reasons. The case report of complicated TTP is demonstrated. Results. The increased frequency of TTP results in the risk for physicians of various specialties of encountering unrecognized or untimely diagnosed TTP, which, even with modern possibilities of verification and treatment, leads to exitus lethalis. The presented clinical case is an example of a sudden severe fatal course of the disease. Conclusions. The presented case report demonstrates that even early detection of TTP and ensuring the timeliness of adequate treatment does not guarantee the success. Each case of thrombocytopenia should be considered as a possible TTP.