Skip Navigation
Genetic and Rare Diseases Information Center (GARD)


Other names people use for this condition
  • TTP, congenital
  • Thrombotic thrombocytopenic purpura, familial
  • Microangiopathic hemolytic anemia
  • Upshaw-Schulman syndrome
  • USS
  • Schulman-Upshaw syndrome
  • Upshaw factor, deficiency of
  • Microangiopathic hemolytic anemia, congenital
  • Thrombotic microangiopathy, familial
Printer Friendly printer friendly version
Home > Genetic & Rare Diseases Information Center (GARD) > Thrombotic thrombocytopenic purpura, congenital



Thrombotic thrombocytopenic purpura, congenital
ORDR lists rare diseases for information purposes only and does not guarantee that a condition is rare. Read more
The links on this page may take you to sites outside of the NIH. (See Disclaimer for details.)
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]


References
  1. Thrombotic thrombocytopenic purpura. Genetic Home Reference. 2008 Available at: http://ghr.nlm.nih.gov/condition/thrombotic-thrombocytopenic-purpura. Accessed April 7, 2011.
click to take you to contact us form

Questions & Answers
If you would like to submit a question, Contact GARD
Show All Resources


For more information about Thrombotic thrombocytopenic purpura, congenital click on the boxes below:
More Detailed Information Organizations Services Scientific Conferences Clinical Trials & Research
 General | Selected Full-Text Journal Articles
More Detailed Information (Found 9 resources)
Links where you can find more general information, comprehensive resources, selected full text journal articles, and news updates.
 Disease-Specific Organizations | Umbrella Organizations | Social Networking Websites
Organizations (Found 7 resources)
Groups providing a wide range of services, supportive resources, and information.

  • Disease-Specific Organizations

    • Platelet Disorder Support Association
      133 Rollins Avenue, #5
      Rockville, MD 20852
      Toll-free: 1-87-PLATELET (1-877-528-3538)
      Telephone: 301-770-6636
      Fax: 301-770-6638
      E-mail: pdsa@pdsa.org  
      Web site: http://www.pdsa.org/
  • Umbrella Organizations

  • Social Networking Websites

    • DNAandU.org is a Web site and blog that collects firsthand stories from people facing issues, making tough decisions, and using genomic (DNA) information in their own healthcare.  Click on the link to learn from their experiences and/or submit your own story.

    • Madisons Foundation
      P.O. Box 241956
      Los Angeles, CA 90024
      Telephone: 310-264-0826
      Fax: 310-264-4766
      E-mail: getinfo@madisonsfoundation.org  
      Web site: http://www.madisonsfoundation.org/  
    • The National Organization of Rare Disorders (NORD) has partnered with Inspire.com to launch an online community for people with rare diseases called The NORD Rare Disease Community. This community connects medical patients, family members, caregivers, and professionals. Click on The NORD Rare Disease Community to learn more.
    • RareShare is an online social hub dedicated to patients, families and healthcare professionals affected by rare medical disorders. Click on RareShare to learn more.
 Testing | Parent Resources
Services (Found 4 resources)
Links to Web sites that offer services, such as tools to locate specialists, specialty clinics, genetic services, and genetic testing laboratories.

    • Many individuals want to know about healthcare professionals or researchers who have knowledge of their conditions. When a condition is rare, it can be difficult to find someone who has seen many cases. Although there is no list of experts in rare diseases, GARD's How to Find an Expert fact sheet provides several ways to identify healthcare professionals who have experience with a particular condition. Click on the link to access this resource and learn more.

  • Testing

    • GeneTests lists laboratories offering clinical genetic testing for this condition. Clinical genetic tests are ordered to help diagnose a person or family and to aid in decisions regarding medical care or reproductive issues. Talk to your health care provider or a genetic professional to learn more about your testing options.
    • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
  • Parent Resources

    • The Parent Technical Assistance Center Network provides a list of the Parent Training and Information Centers in each state. These centers are funded by the United States Department of Education to provide early intervention and special education information and training to parents of children with disabilities from birth to age 26. Click on the link to find the Parent Center in your state.
 Upcoming Conferences | Past Conferences
Scientific Conferences (Found 2 resources)
Resources where you can find information on completed and upcoming scientific conferences and programs.

  • Upcoming Conferences

    • RDCRN 3rd Conference on Clinical Research for Rare Diseases, October 2, 2012
      Location: Hilton Washington DC/Rockville Hotel & Executive Meeting Center, Rockville, MD
      Description: Clinical research in rare diseases presents a number of challenges and unique issues that are not usually considered in the training of clinical investigators through existing training programs. Goals of the conference include: Direct instruction of trainees and new investigators in rare disease research methodology; Development of a reusable curriculum/syllabus on rare disease research methodology; Stimulation of ideas regarding the unique issues facing investigators engaged in the study of rare diseases
  • Past Conferences

 
Clinical Trials & Research (Found 4 resources)
Resources where you may find research studies and clinical trials.

    • NIH Clinical Trials and You is a website developed by the National Institutes of Health (NIH) to help people learn more about clinical trials, why they matter, and how to participate.

    • The Rare Thrombotic Diseases Consortium aims to improve the lives of people with antiphospholipid antibody syndromes, heparin-induced thrombocytopenia, paroxysmal nocturnal hemoglobinuria, catastrophic antiphospholipid antibody syndrome (thrombotic storm), and thrombotic thrombocytopenic purpura (TTP) through research.

      For more information, please contact:

      Letitia Talbott
      Clinical Research Coordinator
      Hemostasis & Thrombosis Center
      Box 3422
      Duke University Medical Center
      Durham, NC 27710
      letitia.talbott@duke.edu

    • The Research Portfolio Online Reporting Tool (RePORT) provides access to reports, data, and analyses of research activities at the National Institutes of Health (NIH), including information on NIH expenditures and the results of NIH-supported research. Although these projects may not conduct studies on humans, you may want to contact the investigators to learn more. To search for studies, click on the link and enter the disease name in the "Terms Search" box. Then click "Submit Query".
      Link: http://projectreporter.nih.gov/reporter.cfm
  • Patient Registry

    • ResearchMatch is a free national research registry designed to bring together patients, healthy volunteers and researchers. Anyone from the United States can register with ResearchMatch, and a parent, legal guardian, or caretaker may register on behalf of a volunteer. Researchers from participating institutions use the ResearchMatch database to search for patients or healthy volunteers who meet the study criteria. Many studies are looking for healthy people of all ages, while some are looking for people with specific illnesses. ResearchMatch was developed by major academic institutions across the country and is funded by the National Center for Research Resources (NCRR), a center of the National Institutes of Health (NIH), the primary Federal agency for conducting and supporting medical research. Click on the link to learn more about ResearchMatch.

Department of Health & Human Services National Institutes of Health USA.gov - government made easy