Congenital Thrombotic Thrombocytopenic Purpura: A Rare Cause of Recurrent Thrombocytopenia and Anemia

Congenital thrombotic thrombocytopenic purpura (cTTP) is a rare autosomal recessive microangiopathic disorder caused by inherited mutations in the ADAMTS13 gene. cTTP treatment involves infusing ADAMTS13-rich blood products like fresh frozen plasma (FFP) to replenish levels and prevent disease relapses. Alternative therapies like recombinant ADAMTS13, plasma-derived Factor VIII, or caplacizumab may be used for patients unable to tolerate FFP. We present a case of a five-month-old girl who had recurrent episodes of anemia and thrombocytopenia. She was diagnosed with cTTP based on the presence of low ADAMTS13 activity and the identification of a homozygous likely pathogenic variant in the ADAMTS13 gene. After receiving regular transfusions of FFP, our patient improved significantly and has been asymptomatic for 18 months with no transfusion complications.