Congenital thrombotic thrombocytopenic purpura related to a novel mutation in ADAMTS13 gene and management during pregnancy

19-year-old G2P0010 Caucasian female was hospitalized at 29 weeks gestation with acute change in vision of her left eye. She reported progressive swelling of her face and bilateral lower extremities, nausea, and vomiting for 1 week prior to presentation. Three days prior to presentation, she developed blurred vision in the central part of her left eye. She denied any hemorrhagic diarrhea or abdominal pain prior to presentation. On initial assessment, the patient was noted to have elevated blood pressure (150/103) without tachycardia or hypoxia. Physical examination was remarkable for 1+ bilateral lower extremity edema with no focal neurological deficits. Slit lamp examination revealed multiple serous detachments of posterior pole of the left macula and small intra-retinal hemorrhage. Initial lab work was notable for severe anemia (hemoglobin [Hb] 6.7 g/dL), thrombocytopenia (platelets [PLT] 13 x 10(3)/mu L), elevated serum creatinine (1.45 mg/dL, reference range 0.5-1.1 mg/dL), and significant proteinuria (3+ on urinalysis). Laboratory data was consistent with hemolytic anemia (elevated LDH [1159 U/L], absolute reticulocyte count [296,000 cell/mu L], indirect bilirubin [1.5 mg/dL], and decreased haptoglobin [<10 mg/dL]) (Table I). Review of the peripheral blood smear demonstrated the presence of 2-3 schistocytes/HPF and thrombocytopenia suggestive of microangiopathy. aPTT, PT/INR and fibrinogen were normal, and direct antiglobulin test was negative. ADAMTS 13 activity was sent. Intrauterine fetal demise was documented through absence of fetal heart tones on abdominal ultrasound.