Thrombotic thrombocytopenic purpura, congenital
Other Names for this Disease
- Congenital thrombotic thrombocytopenic purpura due to ADAMTS-13 deficiency
- Microangiopathic hemolytic anemia
- Microangiopathic hemolytic anemia, congenital
- Schulman-Upshaw syndrome
- Thrombotic microangiopathy, familial
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.Thrombotic thrombocytopenic purpura (TTP), congenital is a blood disorder characterized by low
Last updated: 4/7/2011
- Thrombotic thrombocytopenic purpura. Genetics Home Reference. 2008; http://ghr.nlm.nih.gov/condition/thrombotic-thrombocytopenic-purpura. Accessed 4/7/2011.
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- Gandhi K, Aronow WS, Desai H, Amin H, Sharma M, Lai HM, Singh P. Cardiovascular manifestations in patients with thrombotic thrombocytopenic purpura: a single-center experience. Clin Cardiol. 2010 Apr;33(4):213-6.
- Viswanathan S, Rovin BH, Shidham GB, Raman SV, Weinberg M, Patricia A, George JN, Wu HM, Cataland SR. Long-term, sub-clinical cardiac and renal complications in patients with multiple relapses of thrombotic thrombocytopenic purpura. Br J Haematol. 2010 May;149(4):623-5. Epub 2010 Feb 9.