Hereditary TTP in pregnant saudi lady with family history of TTP

Hereditary Thrombotic thrombocytopenic purpura (also known as Upshaw–Schulman syndrome) is a life-threatening haematological disorder caused by mutation in ADAMTS13 gene encoding von Willebrand factor (vWF)-cleaving protease result in microthrombi formation, which leads to end-organ ischaemia and damage.1,2 Hereditary TTP accounting for less than 5% of all TTP cases, has an approximate incidence of one case per million per year. Despite being inherited disorders, cases can have a late presentation in adulthood triggered by predisposing factors such as infection and pregnancy.3,4 We are reporting a case with Hereditary TTP in 26-year-old pregnant Saudi lady, with positive family history of TTP 26 years old primigravida (15 weeks) presented to our emergency department with ecchymotic patches in bilateral forearms and anterior aspects of both thighs for 1week. Family history showed that two of her sisters diagnosed with TTP one of them died at age of 23 years while she was pregnant (cause of death unknown) On admission she was afebrile with no focal neurological deficits, she had eechymotic patches on both forearms and anterior aspects of both thighs. laboratory data Revealed thrombocytopenia Platelets 21,000/µL picture of haemolytic anaemia (Haemoglobin 9.5 g/dL, indirect bilirubin 1.10 mg/dL, lactate dehydrogenase 643 U/L, reticulocyte count 5.1%, haptoglobin2 mg/dL, Direct anti globulin (DAT) negative. peripheral blood smear showed Normocytic normochromic anaemia, mild poikilocytosis and some fragmented RBCs (4%). Mild absolute neutrophilia with moderate shift to left. Mild thrombocytopenia. Management with Plasmapheresis (4 session) in addition to pulse steroid for 3 days followed by prednisolone 1 mg/kg daily for 3 weeks. patient improved and platelet increase to 203,000/µL, and discharged home after 8 days of hospitalisation. after 3 weeks, she readmitted with severe thrombocytopenia and haemolytic anaemia, complicated with pulmonary haemorrhage, she was transferred to tertiary Hospital where mechanically ventilated, and underwent total of 28 session of plasma exchange Her case was discussed in multidisciplinary team and decision was made to terminate her pregnancy, she received pulse steroid and rituximab two doses, improved and discharged home Genetic testing for ADAMTS 13 genes mutation was send and came positive for homozygote for ADAMTS 13 gene c.3070 T>G Hereditary TTP is an autosomal recessive with a rare gene frequency, some affected families ma