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Thrombotic thrombocytopenic purpura
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Conditions

Thrombotic thrombocytopenic purpura

Thrombotic thrombocytopenic purpura is a rare disorder characterized by the formation of small blood clots throughout the body, which can restrict blood flow to vital organs.

Overview

Thrombotic thrombocytopenic purpura (TTP) causes blood clots (thrombi) to form in small blood vessels. These clots consume platelets, leading to thrombocytopenia (a low platelet count), which can cause purplish spots on the skin (purpura). The clots also damage red blood cells as they pass through, leading to hemolytic anemia.

Symptoms

Complications arise when clots block blood flow to organs:

  • Neurological: Personality changes, headaches, confusion, and slurred speech.
  • Systemic: Fever, abdominal pain, and abnormal kidney function.
  • Anemia-related: Paleness, jaundice (yellowing of skin/eyes), fatigue, shortness of breath, and rapid heart rate.

Causes & Risk Factors

The disorder is caused by a reduction in the activity of the ADAMTS13 enzyme, which is essential for regulating blood clotting.

  • Familial form: Caused by mutations in the ADAMTS13 gene.
  • Acquired form: The immune system produces autoantibodies that block the activity of the ADAMTS13 enzyme.

Triggers such as pregnancy, surgery, or infection can initiate abnormal clotting in susceptible individuals.

Associated Gene

  • ADAMTS13

Inheritance

The familial form is inherited in an autosomal recessive pattern, meaning both copies of the gene in each cell must have mutations. The acquired form is not inherited.

Frequently Asked Questions

The work‑up starts with a complete blood count showing very low platelets and a hemoglobin drop, a peripheral blood smear that reveals fragmented red cells (schistocytes), elevated lactate dehydrogenase, low haptoglobin, and indirect bilirubin indicating hemolysis. An ADAMTS13 activity assay (often sent urgently) helps distinguish acquired from hereditary TTP; activity <10 % strongly supports the diagnosis.
Relapse occurs in about 30‑40 % of patients, especially if ADAMTS13 activity remains low after therapy. Follow‑up includes weekly platelet counts and LDH for the first month, then monthly labs for 6‑12 months, and a repeat ADAMTS13 activity test 30 days after remission. Ongoing monitoring allows early re‑initiation of plasma exchange or immunosuppression if the enzyme activity falls again.
Sudden onset of unexplained bruising or tiny red spots (petechiae), rapid fatigue, dark urine, shortness of breath, fever, severe headache, confusion, slurred speech, abdominal pain, or a rapid drop in urine output are red‑flag signs that require immediate medical evaluation because TTP can progress to organ failure within hours.
Therapeutic plasma exchange (TPE) is started immediately, usually daily, to remove auto‑antibodies and supply functional ADAMTS13. High‑dose corticosteroids are given concurrently, and many centers add caplacizumab (an anti‑vWF nanobody) to block microthrombus formation. Response is often seen within 48‑72 hours as platelet counts rise and hemolysis improves. Rituximab may be added for refractory or relapsing disease.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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