Keywords
thrombotic thrombocytopenic purpura
thrombotic microangiopathy
ultralarge multimers of von Willebrand factor
How to Cite
Abstract
Introduction: Thrombotic thrombocytopenic purpura is related to ADAMTS13 metalloprotease deficiency. Although its incidence in pediatric patients is low, it constitutes a hematological emergency. Thrombotic microangiopathies include syndromes characterized by the presence of microangiopathic hemolytic anemia with the presence of schistocytes, thrombocytopenia from consumption, and organ damage. Severe functional deficiency of ADAMTS13 results in the accumulation of ultra-large multimers of von Willebrand factor with prothrombotic features. Patient and methods: The case of a previously healthy 15-year-old patient who consulted for neurological symptoms, vomiting, and fatigue is presented. Her clinical history did not show hematological abnormalities. Marked anemia with the presence of schistocytes compatible with microangiopathic hemolytic anemia was detected. Coagulation tests were normal. Viral serological studies and bacteriological cultures were negative. Due to the presence of neurological symptoms, preserved renal function, thrombocytopenia, and the presence of schistocytes, thrombotic thrombocytopenic purpura was suspected. ADAMTS13 dosage was requested and treatment was started. ADAMTS13 activity was less than 10% and the study of the presence of inhibitor was positive for IgG antibodies. This allowed confirming the diagnosis of immune thrombotic thrombocytopenic purpura. Conclusion: Clinical suspicion of thrombotic thrombocytopenic purpura in pediatric patients and measurement of ADAMTS13 activity are essential to establish the etiology of thrombotic microangiopathies and an effective and timely treatment. A delay in the treatment could result in further organ damage and increased mortality.
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