Congenital thrombotic thrombocytopenic purpura (TTP) is a rare, life-threatening disorder that affects the blood. It is caused by a deficiency of an enzyme called ADAMTS13, which normally breaks down large molecules in the blood called von Willebrand factor (VWF). Without this enzyme, VWF builds up in the blood and causes clots to form in small blood vessels throughout the body. This can lead to a decrease in platelets, which are necessary for normal blood clotting, and can cause serious problems such as organ damage, stroke, and even death. Treatment typically involves replacing the missing enzyme and other supportive measures.

The symptoms of Congenital thrombotic thrombocytopenic purpura (TTP) vary depending on the severity of the condition. Common symptoms include:

-Fatigue

-Fever

-Jaundice

-Abdominal pain

-Nausea and vomiting

-Dark urine

-Pale skin

-Easy bruising or bleeding

-Confusion

-Headache

-Seizures

-Shortness of breath

-Rapid heart rate

-Enlarged spleen or liver

-Blood in the urine or stool

Congenital thrombotic thrombocytopenic purpura (TTP) is a rare, life-threatening disorder caused by a deficiency of the enzyme ADAMTS13. This enzyme is responsible for breaking down large molecules of von Willebrand factor (VWF), which is a protein involved in blood clotting. Without ADAMTS13, VWF accumulates in the blood, leading to the formation of small clots in the small blood vessels throughout the body.

The exact cause of congenital TTP is unknown, but it is believed to be an inherited disorder. In some cases, it is caused by mutations in the ADAMTS13 gene, which is responsible for producing the enzyme. In other cases, it is caused by an autoimmune disorder in which the body produces antibodies that attack and destroy the ADAMTS13

The main treatment for congenital thrombotic thrombocytopenic purpura (TTP) is plasma exchange (also known as plasmapheresis). This involves removing the patient's blood, separating out the plasma (the liquid part of the blood) and replacing it with donor plasma or a plasma substitute. This helps to reduce the levels of the abnormal proteins that are causing the TTP. Other treatments may include medications such as corticosteroids, immunosuppressants, and intravenous immunoglobulin (IVIG). In some cases, a splenectomy (surgical removal of the spleen) may be necessary.

1. Maternal infection during pregnancy, such as toxoplasmosis, rubella, cytomegalovirus, herpes simplex virus, and parvovirus B19.

2. Maternal use of certain medications during pregnancy, such as valproic acid, carbamazepine, and lamotrigine.

3. Maternal autoimmune diseases, such as systemic lupus erythematosus, antiphospholipid syndrome, and rheumatoid arthritis.

4. Maternal exposure to certain environmental toxins, such as lead and mercury.

5. Family history of thrombotic thrombocytopenic purpura.

6. Premature birth.

7. Low birth weight.

8. Male gender.

At this time, there is no cure for Congenital thrombotic thrombocytopenic purpura (TTP). However, medications such as plasma exchange, corticosteroids, and immunosuppressants can be used to treat the condition. These medications can help reduce the symptoms and prevent further complications.