Deaths from thrombotic thrombocytopenic purpura

Thrombotic Thrombocytopenic Purpura (TTP) is a rare, life-threatening blood disorder characterized by the formation of small blood clots (thrombi) throughout the body's blood vessels. This clotting can lead to a significant reduction in the number of platelets in the blood, a condition known as thrombocytopenia, which can result in bleeding problems. Additionally, the small clots can block blood vessels, preventing the normal flow of blood to the body's organs, including the brain, kidneys, and heart, leading to a range of serious complications.

Causes

TTP can be triggered by various factors, including genetic mutations, certain medications, autoimmune diseases, and infections. The disorder is often categorized into two types: acquired and hereditary. Acquired TTP, the more common form, is typically caused by an autoimmune response that produces antibodies against ADAMTS13, an enzyme necessary for breaking down von Willebrand factor, a protein that plays a key role in blood clotting. Hereditary TTP, also known as congenital TTP, is caused by mutations in the gene that produces the ADAMTS13 enzyme.

Symptoms

The symptoms of TTP can vary widely but often include:

• Purpura (small red or purple spots on the skin caused by bleeding)
• Fatigue
• Fever
• Headache
• Confusion
• Weakness or numbness of the extremities
• Jaundice
• Abdominal pain
• Kidney failure

Diagnosis

Diagnosing TTP involves a combination of clinical evaluation and laboratory tests. Key tests include blood tests to measure platelet count, levels of lactate dehydrogenase (LDH), and the activity of the ADAMTS13 enzyme. A blood smear may also be performed to look for schistocytes, which are fragmented red blood cells indicative of TTP.

Treatment

The primary treatment for TTP is plasma exchange (plasmapheresis), which involves removing the patient's blood, separating the plasma, and replacing it with fresh plasma or a plasma substitute. This process removes the antibodies against ADAMTS13 and replenishes the level of the enzyme in the bloodstream. In cases where plasmapheresis is not effective or for patients with hereditary TTP, infusion of fresh frozen plasma may be used to provide the missing enzyme. Immunosuppressive drugs may also be administered to reduce the production of antibodies against ADAMTS13.

Prognosis

With prompt and appropriate treatment, the prognosis for individuals with TTP has improved significantly. However, the condition can be fatal if not treated quickly, with mortality rates significantly higher in untreated cases. Even with treatment, relapses can occur, and long-term monitoring is necessary.

Deaths from TTP

Deaths from TTP are relatively rare due to advances in diagnosis and treatment. However, they can occur, particularly in cases where the diagnosis is delayed or in severe cases that do not respond well to treatment. The risk of death is higher in patients with severe organ damage or complications such as stroke or heart attack.

NIH genetic and rare disease info

• NIH info on Deaths from thrombotic thrombocytopenic purpura

Deaths from thrombotic thrombocytopenic purpura is a rare disease.