Thrombotic thrombocytopenic purpura, congenital

Common Name(s)

Thrombotic thrombocytopenic purpura, congenital, Upshaw-Schulman syndrome

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.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Thrombotic thrombocytopenic purpura, congenital" for support, advocacy or research.

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The Haemophilia Society

To ensure that people affected by bleeding disorders have the freedom to make choices and seize opportunities To enable people affected by bleeding disorders to better understand and manage their condition or situation. To enable people affected by bleeding disorders to participate in decision making and service delivery. To influence policy and improve services to people with bleeding disorders.

http://www.haemophilia.org.uk/

Last Updated: 3 Apr 2013

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Thrombotic thrombocytopenic purpura, congenital" for support, advocacy or research.

Logo
The Haemophilia Society

To ensure that people affected by bleeding disorders have the freedom to make choices and seize opportunities To enable people affected by bleeding disorders to better understand and manage their condition or situation. To enable people affected by bleeding disorders to participate in decision making and service delivery. To influence policy and improve services to people with bleeding disorders.

http://www.haemophilia.org.uk/

Last Updated: 3 Apr 2013

View Details

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Thrombotic thrombocytopenic purpura, congenital" returned 0 free, full-text research articles on human participants.

Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Thrombotic thrombocytopenic purpura, congenital" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Genotype and Phenotype Correlation in Hereditary Thrombotic Thrombocytopenic Purpura (Upshaw-Schulman Syndrome)
 

Status: Recruiting

Condition Summary: Thrombotic Thrombocytopenic Purpura; Congenital Thrombotic Thrombocytopenic Purpura; Familial Thrombotic Thrombocytopenic Purpura; Thrombotic Thrombocytopenic Purpura, Congenital; Upshaw-Schulman Syndrome

 

Last Updated: 11 Dec 2013

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Single Incision Versus Standard Laparoscopic Splenectomy
 

Status: Recruiting

Condition Summary: Hereditary Spherocytosis; Idiopathic Thrombocytopenic Purpura

 

Last Updated: 13 Feb 2013

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