Paper Title
“Born With Broken Scissors; Diagnosed Decades Later” A Rare Case Presentation of Adult Onset Congenital TTP

Abstract
Introduction: Thrombotic thrombocytopenic purpura(TTP) is a rare thrombotic microangiopathy caused by severe deficiency of the von willebrand factor-cleaving protease ADAMTS13 gene and represents less than 5% of all TTP cases, with an estimated prevalence of 23 per million population.Its presentation in adults is exceptionally uncommon especially the congenital TTP variant. Case Details: A 24-year-old female presented with headache,hypertension and blurring of vision and seizure history, and a recent spontaneous abortion at 24 weeks’ gestation. Clinical evaluation revealed hypertension and tachycardia. Laboratory investigations demonstrated severe thrombocytopenia (platelet count: 10,000/µL), anemia, reticulocytosis (13%, RPI 5.5), schistocytes on peripheral smear, elevated LDH, indirect hyper bilirubinemia, and normal liver enzymes with normal PT and a PTT.. ADAMTS13 activity was less than 10%, without the presence of ADAMTS13 inhibitors, and genetic testing confirmed biallelic ADAMTS13 mutations. All these are consistent with the diagnosis of congenital TTP aka Upshaw- Schulman syndrome. The patient received daily fresh frozen plasma (10–15 mL/kg) until clinical and hematologic normalization. On two-week follow- up, platelet count and reticulocyte index had normalized Discussion: Congenital TTP is a rare autosomal recessive disorder caused by severe deficiency of ADAMTS13 activity (<10%) due to ADAMTS13 gene mutations. Deficiency of this protease leads to accumulation of von Willebrand factor multimers, resulting in platelet-rich microthrombi and MAHA. Unlike acquired TTP, congenital TTP typically presents in childhood or early adulthood, often triggered by infections, pregnancy, or stress, and lacks anti-ADAMTS13 autoantibodies. Patients present with thrombocytopenia and hemolysis, while neurological and renal involvement are variable. Diagnosis is confirmed by persistently low ADAMTS13 activity without inhibitors. Plasma infusion and therapeutic plasma exchange is the mainstay of therapy. Early diagnosis is essential to reduce morbidity and avoid unnecessary immunosuppressive therapy Conclusion: This case emphasizes the importance of considering congenital TTP in adults presenting with unexplained hemolytic anemia and thrombocytopenia, especially during pregnancy. Although rare, congenital TTP can be life-threatening without timely intervention. Prompt diagnosis and appropriate plasma replacement therapy are crucial for achieving favorable outcomes REFERENCES [1] Thrombotic thrombocytopenic purpura and hemolytic uremic syndrome - Harrison principle of internal medicine 22ed pg 924-925. [2] Hereditary Thrombotic Thrombocytopenic Purpura. Kremer Hovinga JA, George JN N Engl J Med. 2019;381(17):1653.