Hereditary thrombotic thrombocytopenic purpura (TTP)
- James N George, MD
James N George, MD
- Professor of Medicine
- University of Oklahoma Health Sciences Center
- Adam Cuker, MD, MS
Adam Cuker, MD, MS
- Assistant Professor of Medicine, Assistant Professor of Pathology & Laboratory Medicine
- Perelman School of Medicine University of Pennsylvania
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")To continue reading this article, you must log in with your personal, hospital, or group practice subscription. For more information on subscription options, click below on the option that best describes you:
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- CLINICAL FEATURES
- Acute episode presenting features
- Laboratory findings
- - Acute episode
- - After recovery
- - Unaffected siblings
- Differential diagnosis
- Overview of approach
- Acute episode
- - Plasma infusion
- - Expected recovery
- Routine monitoring
- Prevention of recurrences
- Complications of plasma infusion
- Genetic counseling and testing of siblings
- THERAPIES UNDER DEVELOPMENT
- SUMMARY AND RECOMMENDATIONS