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All Diseases > Congenital thrombotic thrombocytopenic purpura
Congenital thrombotic thrombocytopenic purpura
Alternative Names: cTTP
Disease Category: Thrombotic Microangiopathies
Congenital thrombotic thrombocytopenic purpura (congenital TTP) is a blood disorder in which blood clots form in the small blood vessels throughout the body. Congenital TTP is caused by genetic mutations in the gene coding for an enzyme called ADAMTS13, leading to a severe deficiency of ADAMTS13. The inheritance is autosomal recessive. The ADAMTS13 enzyme normally helps control the activity of a blood clotting factor called von Willebrand factor.
Though individuals with congenital TTP have severe ADAMTS13 deficiency since birth, symptoms typically develop during infancy or early childhood or may first present later in life especially in the setting of pregnancy. Symptoms generally are due to hemolytic anemia, low platelets (thrombocytopenia), and neurologic dysfunction. Symptoms of anemia can include fatigue, paleness, jaundice, shortness of breath, and a rapid heart rate. Widespread thrombosis (abnormal clotting) can lead to problems with the nervous system (such as headaches, confusion, and seizures), abnormal kidney function, heart problems, and gastrointestinal problems. Individuals with congenital TTP are also at risk of severe pregnancy complications and conditions such as stroke.