Print friendly version
Thrombotic thrombocytopenic purpura, congenital
Other Names for this Disease
- Microangiopathic hemolytic anemia
- Microangiopathic hemolytic anemia, congenital
- Schulman-Upshaw syndrome
- Thrombotic microangiopathy, familial
- Thrombotic thrombocytopenic purpura, familial
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.
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. Genetic Home Reference. 2008; http://ghr.nlm.nih.gov/condition/thrombotic-thrombocytopenic-purpura. Accessed 4/7/2011.
Your Questions Answeredby the Genetic and Rare Diseases Information Center
Please contact us with your questions about Thrombotic thrombocytopenic purpura, congenital. We will answer your question and update these pages with new resources and information.
- Genetics Home Reference (GHR) contains information on Thrombotic thrombocytopenic purpura, congenital. This website is maintained by the National Library of Medicine.
- MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic. Click on the link to view this information.
- The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.
In Depth Information
- Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
- The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Thrombotic thrombocytopenic purpura, congenital. Click on the link to go to OMIM and review these resources.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Thrombotic thrombocytopenic purpura, congenital. Click on the link to view a sample search on this topic.
Selected Full-Text Journal Articles
- 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.