Laboratory investigation and diagnosis of thrombotic thrombocytopenic purpura

Thrombotic thrombocytopenic purpura (TTP) is a rare and potentially fatal disease for which rapid diagnosis is crucial for patient outcomes. Deficient activity (< 10%) of the liver enzyme, ADAMTS13, is the pathophysiological hallmark of TTP, and measurement of the enzyme activity can establish the diagnosis of TTP with high accuracy. Thus, along with the clinical history, appropriate laboratory assessment of a suspected case of TTP is essential for diagnosis and treatment. Here, we present a review of the available laboratory tests that can assist clinicians in establishing the diagnosis of TTP, with special focus on ADAMTS13 assays, including the measurement of the antigen and activity, and detection of autoantibodies to ADAMTS13.