CONGENITAL THROMBOTIC THROMBOCYTOPENIC PURPURA IN CHILDREN

Introduction. Congenital thrombotic thrombocytopenic purpura (TTP) is a rare and life-threatening genetic disorder characterized by recurrent episodes of microangiopathic hemolytic anemia, thrombocytopenia, and organ dysfunction due to the deficiency or dysfunction of the ADAMTS13 enzyme. Despite the availability of clinical and laboratory diagnostic criteria the diagnosis remains challenging due to a wide range of diseases with similar appearance. Aim: to analyze the clinical manifestations and treatment results of identified cases of congenital TTP at the Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology. Methods. This article reviews 11 clinical cases with congenital TTP genetically confirmed or with typical clinical and laboratory signs. Results. Clinical and laboratory signs of TTP are highly variable and nonspecific, which was observed in the described cohort of patients. One of the trigger factors is often an acute respiratory viral infection, and stabilization of the disease can occur after transfusions of blood components. A delay of diagnosis can often lead not only to a delay of correct therapy, but also to the prescription of wrong therapy. The main diagnosis confirmatory method was a molecular genetic test, which was carried out in 8 cases. All patients diagnosed with congenital TTP were successfully treated with FFP therapy. Conclusion. Early diagnosis of TTP is difficult due to the lack of specific clinical manifestations and easily accessible laboratory tests.