Thrombotic Thrombocytopenic Purpura (TTP)

---

Description

Thrombotic Thrombocytopenic Purpura (TTP) is a rare but serious blood disorder that can lead to life-threatening complications. It is characterized by the formation of small blood clots in the tiny blood vessels throughout the body, which can cause damage to various organs. This leads to a shortage of platelets, which are essential for blood clotting. TTP is often a medical emergency, and prompt treatment is crucial for survival. This article will provide comprehensive information about TTP, including its causes, symptoms, diagnosis, management, and tips for thriving with this condition.

Genes Involved

The specific genes involved in TTP vary depending on the type. Some known genes include:

• ADAMTS13: This gene provides instructions for making a protein that breaks down large von Willebrand factor (VWF) molecules, preventing excessive clotting. Mutations in this gene are the most common cause of inherited TTP.
• Other genes: Other genes involved in TTP include those involved in platelet function, coagulation, and immune response. The exact role of these genes in TTP is still under investigation.

Recognizing the Signs and Symptoms

Recognizing the signs and symptoms of TTP is crucial for early diagnosis and treatment. Key symptoms include:

• Fatigue and weakness: These are often early signs of TTP.
• Fever: A sudden onset of fever can also indicate TTP.
• Headache: Severe headaches, particularly those that worsen over time, are common.
• Confusion and altered mental status: TTP can affect the brain, causing confusion, disorientation, and other neurological symptoms.
• Shortness of breath: Difficulty breathing can occur if TTP affects the lungs.
• Bleeding: TTP can cause abnormal bleeding, such as nosebleeds, easy bruising, or bleeding gums.
• Purple or red spots on the skin: These are called petechiae and can occur due to the low platelet count.
• Yellowing of the skin or eyes (jaundice): This can indicate liver damage, which can occur with TTP.

If you experience any of these symptoms, it is important to seek immediate medical attention.

Causes

TTP can be either inherited or acquired.

Inherited TTP: This is a rare, autosomal recessive condition caused by mutations in the ADAMTS13 gene. It is typically diagnosed in childhood or early adulthood.

Acquired TTP: This is the most common form of TTP. The exact cause is unknown, but it is thought to be triggered by factors such as:

• Autoimmune disorders: Conditions like lupus, rheumatoid arthritis, and HIV can increase the risk of developing TTP.
• Certain medications: Some medications, including antiplatelet drugs (like aspirin) and chemotherapy drugs, can increase the risk of TTP.
• Infections: Certain infections, such as E. coli, can trigger TTP.
• Pregnancy: TTP can occur during pregnancy, particularly in the third trimester.
• Cancer: TTP is more common in people with certain types of cancer.
• Other medical conditions: Conditions like kidney disease, heart disease, and diabetes can also increase the risk of TTP.

Inheritance/recurrence risk

Inherited TTP is passed down through families in an autosomal recessive pattern. This means that both parents must carry a copy of the mutated gene for their child to inherit the disorder. If both parents are carriers, there is a 25% chance with each pregnancy that their child will inherit TTP. There is also a 50% chance with each pregnancy that their child will be a carrier of the mutated gene.

Acquired TTP is not inherited. However, there is a small chance that a person who has had TTP may develop it again in the future.