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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
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Overview

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.[1]
Last updated: 4/7/2011

References

  1. Thrombotic thrombocytopenic purpura. Genetics Home Reference. 2008; http://ghr.nlm.nih.gov/condition/thrombotic-thrombocytopenic-purpura. Accessed 4/7/2011.
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Basic 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.
  • The National Heart, Lung, and Blood Institute (NHLBI) provides leadership for a national program in diseases of the heart, blood vessels, lung, and blood; blood resources; and sleep disorders. Since October 1997, the NHLBI has also had administrative responsibility for the NIH Woman's Health Initiative. Click on the link to view information on this topic.
  • 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.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • 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

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.