Congenital ADAMTS-13 deficiency presenting as life-threatening thrombosis during pregnancy.

ABSTRACT

Thrombotic thrombocytopenic purpura (TTP) is a life-threatening disease characterised by thrombocytopenia, microangiopathic haemolytic anaemia and microvascular thrombosis. Congenital TTP accounting for less than 5% of all TTP cases can have a late presentation in adulthood mostly triggered by predisposing factors such as infection, pregnancy and inflammation. We present a case of a 23-year-old woman who presented to us in the postpartum period with mesenteric artery thrombosis with infarcts and later was diagnosed as a case of TTP based on congenital a disintegrin and metalloproteinase with thrombospondin type 1 repeats 13 (ADAMTS-13) deficiency detected on ADAMTS-13 levels and gene sequencing. She was successfully managed initially with therapeutic plasma exchanges and is now on prophylactic fortnightly fresh frozen plasma infusions at 15 mL/kg body weight and continues to be in remission.