Summary about Disease
Thrombocytopenic purpura (TTP) is a rare blood disorder characterized by the formation of blood clots in small blood vessels throughout the body. These clots can block blood flow to vital organs, such as the brain, heart, and kidneys. This process also uses up platelets, leading to a low platelet count (thrombocytopenia), which can cause excessive bleeding. There are two main types: acquired TTP (most common), which is usually autoimmune, and inherited TTP, which is caused by a genetic defect.
Symptoms
Symptoms of TTP can vary depending on the severity of the condition and which organs are affected. Common symptoms include:
Purpura (small, purple spots on the skin caused by bleeding under the skin)
Petechiae (tiny, pinpoint-sized red or purple spots on the skin)
Fatigue
Pale skin (pallor)
Jaundice (yellowing of the skin and eyes)
Headache
Confusion
Seizures
Stroke-like symptoms (difficulty speaking, weakness on one side of the body)
Fever
Abdominal pain
Nausea and vomiting
Bloody urine or stool
Causes
The causes of TTP depend on the type:
Acquired TTP: This is most often caused by an autoimmune reaction where the body produces antibodies that block the activity of an enzyme called ADAMTS13. ADAMTS13 normally cleaves von Willebrand factor (vWF), a protein involved in blood clotting. When ADAMTS13 is blocked, vWF builds up, leading to the formation of blood clots. Risk factors include pregnancy, HIV infection, cancer, autoimmune diseases, and certain medications.
Inherited TTP: This is caused by a genetic mutation in the ADAMTS13 gene, leading to a deficiency of the ADAMTS13 enzyme.
Medicine Used
Treatment for TTP typically involves:
Plasma exchange (plasmapheresis): This is the first-line treatment. It removes the patient's plasma, which contains the harmful antibodies, and replaces it with donor plasma.
Immunosuppressants: Medications like corticosteroids (e.g., prednisone) and rituximab are used to suppress the immune system and reduce the production of antibodies.
Caplacizumab: A monoclonal antibody that blocks the interaction of vWF with platelets, preventing clot formation. It is used in conjunction with plasma exchange and immunosuppressants.
ADAMTS13 replacement therapy: For inherited TTP, infusions of recombinant ADAMTS13 may be used.
Is Communicable
TTP is not communicable. It is not caused by an infection and cannot be spread from person to person.
Precautions
Precautions for individuals with TTP include:
Avoid activities that could cause injury: Due to the risk of bleeding, it's important to avoid contact sports, strenuous activities, and situations where injuries are likely.
Inform healthcare providers: Always inform doctors, dentists, and other healthcare providers about the diagnosis of TTP before any procedures or treatments.
Medication awareness: Be aware of medications that can increase the risk of bleeding, such as aspirin and nonsteroidal anti-inflammatory drugs (NSAIDs).
Prompt medical attention: Seek immediate medical attention if symptoms of TTP worsen or if new symptoms develop.
Monitor for signs of bleeding: Regularly check for signs of bleeding, such as nosebleeds, bruising, or blood in the urine or stool.
How long does an outbreak last?
The duration of a TTP outbreak varies. Without treatment, acute TTP can be rapidly fatal. With prompt and effective treatment, most people with TTP can achieve remission. However, relapses can occur, especially in acquired TTP. The initial treatment phase can last several weeks or months, and maintenance therapy may be needed for longer periods to prevent relapses.
How is it diagnosed?
Diagnosis of TTP typically involves:
Complete blood count (CBC): To check for thrombocytopenia (low platelet count) and anemia.
Peripheral blood smear: To look for schistocytes (fragmented red blood cells), which are a hallmark of TTP.
ADAMTS13 activity test: To measure the level of ADAMTS13 enzyme in the blood. Low ADAMTS13 activity is a key diagnostic criterion for TTP.
Antibody test: To detect the presence of antibodies against ADAMTS13.
Coagulation studies: To rule out other clotting disorders.
Kidney function tests: To assess kidney function.
Neurological examination: To assess for neurological symptoms.
Timeline of Symptoms
The timeline of TTP symptoms can vary. Some individuals may experience a rapid onset of symptoms, while others may have a more gradual progression.
Initial Phase: Often begins with fatigue, purpura, and petechiae.
Progression: As the condition progresses, more severe symptoms may develop, such as headache, confusion, seizures, stroke-like symptoms, abdominal pain, and kidney problems.
Critical Phase: If left untreated, TTP can lead to organ damage, coma, and death.
Treatment Phase: With prompt treatment, symptoms may begin to improve within a few days. However, it may take several weeks or months for the platelet count to normalize and for other symptoms to resolve.
Important Considerations
TTP is a medical emergency requiring immediate diagnosis and treatment.
Prompt plasma exchange is crucial for improving outcomes.
Relapses can occur, so ongoing monitoring is important.
Long-term management may involve immunosuppressive therapy.
Patients with TTP should be under the care of a hematologist (a doctor specializing in blood disorders).
Pregnancy in women with a history of TTP requires careful monitoring.
Genetic counseling may be recommended for families with a history of inherited TTP.