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Hereditary thrombotic thrombocytopenic purpura (TTP)

James N George, MD
Adam Cuker, MD, MS
Section Editor
Lawrence LK Leung, MD
Deputy Editor
Jennifer S Tirnauer, MD


Thrombotic thrombocytopenic purpura (TTP) is a thrombotic microangiopathy caused by severely reduced activity of the von Willebrand factor-cleaving protease ADAMTS13. It is characterized by small-vessel platelet-rich thrombi that cause thrombocytopenia and microangiopathic hemolytic anemia (MAHA). Some patients may have neurologic abnormalities, mild renal insufficiency, and low-grade fever. Most cases of TTP are acquired, caused by autoantibody inhibition of ADAMTS13 activity. Hereditary TTP, caused by ADAMTS13 gene mutations, is much less common.

This topic discusses our approach to the diagnosis and management of hereditary TTP.

Our general approach to the patient with suspected TTP, HUS, or related syndromes is presented in detail separately. (See "Approach to the patient with suspected TTP, HUS, or other thrombotic microangiopathy (TMA)".)

Separate topic reviews also present the diagnosis, management, and pathophysiology of acquired TTP and hemolytic uremic syndrome (HUS):

Acquired TTP diagnosis – (see "Acquired TTP: Clinical manifestations and diagnosis")

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Literature review current through: Oct 2017. | This topic last updated: Sep 26, 2017.
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