Thrombotic thrombocytopenic purpura (TTP), congenital
is a blood disorder characterized by low platelets (i.e., thrombocytopenia), small areas of bleeding under the skin (i.e., purpura), low red blood cell count, and hemolytic anemia. TTP causes blood clots (thrombi) to form in small blood vessels throughout the body. These clots can cause serious medical problems if they block vessels and restrict blood flow to organs such as the brain, kidneys, and heart. Resulting complications can include neurological problems (such as personality changes, headaches, confusion, and slurred speech), fever, abnormal kidney function, abdominal pain, and heart problems. Hemolytic anemia can lead to paleness, yellowing of the eyes and skin (jaundice), fatigue, shortness of breath, and a rapid heart rate. TTP, congenital is much rarer than the acquired form and typically appears in infancy or early childhood. Signs and symptoms often recur on a regular basis. TTP, congenital results from mutations in the ADAMTS13 gene. The condition is inherited in an autosomal recessive manner. Source: Genetic and Rare Diseases Information Center (GARD), supported by ORDR-NCATS and NHGRI.