Diseases Studied

iTTP- Immune TTP (iTTP) is a rare autoimmune blood disorder. In iTTP, the body’s immune system mistakenly attacks and blocks an important enzyme called ADAMTS13, which normally helps regulate blood clotting. When ADAMTS13 is not working properly, small blood clots can form throughout the body. These clots can reduce blood flow to vital organs like the brain, heart, and kidneys, and can lead to low platelet counts and damage to red blood cells. iTTP often develops suddenly and can cause symptoms such as extreme fatigue, bruising, confusion, headaches, or more serious complications like stroke. It is considered a medical emergency and requires prompt treatment. Treatment typically includes plasma exchange and medications that suppress the immune system. With early and effective treatment, many people recover, but ongoing follow-up is important since the condition can come back (relapse).

cTTP-Congenital TTP (cTTP) is a rare, inherited blood disorder that affects how your body controls clotting. People with cTTP are born with very low levels or a complete lack of an enzyme called ADAMTS13. This enzyme normally helps prevent blood from clotting too much. Without enough ADAMTS13, small blood clots can form throughout the body. These clots can block blood flow to important organs like the brain, heart, and kidneys, and can also damage red blood cells and lower platelet counts. Symptoms can vary but may include fatigue, bruising, confusion, headaches, or more serious complications like stroke. Some people are diagnosed in infancy or childhood, while others may not be diagnosed until adulthood. cTTP is a lifelong condition, but it can be managed with regular treatment—often plasma infusions—to replace the missing enzyme and prevent complications.

CM-TMA- Complement-mediated TMA (CM-TMA), also known as atypical hemolytic uremic syndrome (aHUS), is a rare condition that affects the blood and kidneys. It is caused by a problem with the body’s complement system, which is part of the immune system that helps fight infections.

In CM-TMA/aHUS, the complement system becomes overactive and damages the lining of blood vessels. This leads to the formation of small blood clots throughout the body, especially in the kidneys. These clots can reduce blood flow, damage organs, and cause low platelet counts and destruction of red blood cells. Symptoms may include fatigue, swelling (especially in the legs or around the eyes), decreased urine, high blood pressure, and sometimes confusion or other serious complications. CM-TMA/aHUS can be triggered by infections, pregnancy, certain medications, or may occur without a clear trigger. It is a serious condition, but treatments—such as medications that block the complement system—can help control the disease and protect organ function.