Thrombotic thrombocytopenic purpura

Thrombotic Thrombocytopenic Purpura (TTP) is a rare genetic disorder that affects the normal functioning of the blood clotting process. It is characterized by the formation of small blood clots throughout the body, leading to a decrease in platelet levels, known as thrombocytopenic purpura.

This condition is caused by mutations in the ADAMTS13 gene, which is responsible for producing an enzyme that helps regulate blood clotting. The decrease in ADAMTS13 activity leads to an abnormal buildup of large Von Willebrand factor multimers, resulting in the formation of blood clots.

Research and clinical studies have provided valuable information about TTP and its associated genetic factors. The National Institutes of Health’s PubMed and ClinicalTrials.gov databases contain numerous articles and ongoing clinical trials that explore the causes, inheritance patterns, and potential treatments for TTP.

Although TTP can be inherited, it can also occur sporadically and is not limited to any specific population or age group. The disease can be triggered by various factors, including pregnancy, infections, medications, and other underlying autoimmune disorders. However, the exact mechanisms that lead to the development of TTP in these cases are still being studied.

The Thrombotic Thrombocytopenic Purpura Genetic Testing Center (OMIM) provides additional resources and information about the disease, including genetic testing options, associated genes, and inheritance patterns. Advocacy groups and support centers are also available to provide assistance and resources for individuals and families affected by this rare condition.

With more scientific research and clinical studies, we continue to learn about the genetic and molecular basis of thrombotic thrombocytopenic purpura. By understanding the underlying genetic causes and associated factors in the clotting process, we can develop improved diagnostic tools, treatments, and management strategies to support patients with TTP.

In conclusion, thrombotic thrombocytopenic purpura is a rare genetic condition characterized by the formation of blood clots and a decrease in platelet levels. Genetic mutations in the ADAMTS13 gene play a significant role in the development of this condition. Ongoing research, clinical trials, and resources are available to learn more about the disease, support affected individuals, and advance treatment options.

Frequency

Thrombotic thrombocytopenic purpura (TTP) is a rare disease, with an estimated frequency of 3-7 cases per million people per year in the general population. However, the exact frequency is difficult to determine due to the rarity of the condition and limited research.

In pregnancy, the frequency of TTP is higher, affecting approximately 1 in 25,000 pregnancies. Pregnancy-associated TTP typically occurs in the third trimester or early postpartum period.

Genetic inheritance is associated with a rare form of TTP, known as congenital TTP. Mutations in the ADAMTS13 gene, which encodes a protein that regulates the function of platelets, are responsible for this genetic form of the disease. Inherited TTP is estimated to occur in approximately 1 in 1 million people.

Additional testing for ADAMTS13 activity and genetic analysis may be required to confirm the diagnosis of TTP and determine the underlying cause of thrombocytopenia.

Scientific articles and research studies on TTP can be found on PubMed, clinical trial information can be found on ClinicalTrials.gov, and genetic information can be found on OMIM.

Information and resources about TTP, patient advocacy, and support can also be obtained from TTP-specific organizations and centers specializing in the treatment of blood clotting diseases.

Learn more about thrombotic thrombocytopenic purpura and its associated factors from these resources:

Scientific articles on PubMed
Clinical trial information on ClinicalTrials.gov
Genetic information on OMIM
Patient advocacy and support organizations
Centers specializing in the treatment of blood clotting diseases

References:

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Causes

Thrombotic thrombocytopenic purpura (TTP) is a rare blood disorder characterized by abnormalities in the clotting process. It is primarily caused by a deficiency of a protein called ADAMTS13 (a disintegrin and metalloproteinase with a thrombospondin type 1 motif, member 13).

ADAMTS13 plays a crucial role in controlling the activity of von Willebrand factor (vWF), a protein that is involved in the clotting process. In TTP, the deficiency of ADAMTS13 leads to an abnormal accumulation of vWF in blood vessels, which causes the formation of small blood clots throughout the body.

There are two main factors associated with the development of TTP: genetic and acquired factors.

Genetic factors: Some individuals with TTP have a genetic mutation in the ADAMTS13 gene, which leads to a lifelong deficiency of the protein. This genetic form of TTP is rare and often inherited in an autosomal recessive manner.
Acquired factors: Most cases of TTP are acquired, meaning they are not caused by inherited genetic mutations. Acquired TTP can be triggered by various factors, including pregnancy, infections, autoimmune diseases, certain medications, and other underlying health conditions.

It is important to note that TTP is a complex disease with multiple causes and risk factors. It is crucial to consult with a healthcare professional to determine the specific cause and appropriate management of TTP in each individual case.

For more information on the causes of thrombotic thrombocytopenic purpura, you can visit the following resources:

Genetic Home Reference: Provides information on the genetic inheritance and associated genes of TTP. Available at: https://ghr.nlm.nih.gov/condition/thrombotic-thrombocytopenic-purpura
OMIM: Offers comprehensive information on the genetic basis of TTP and related genetic diseases. Available at: https://omim.org/entry/274150
ClinicalTrials.gov: Provides a database of ongoing research studies and clinical trials related to TTP. Available at: https://clinicaltrials.gov/
PubMed: Offers scientific articles and research studies on the causes and management of TTP. Available at: https://pubmed.ncbi.nlm.nih.gov/
TTP & HUS Research Foundation: Provides support, advocacy, and resources for patients with TTP and related diseases. Available at: https://giif.org/
Rare Diseases Catalog: Offers information on the frequency, clinical characteristics, inheritance, and additional resources on thrombotic thrombocytopenic purpura. Available at: https://rarediseases.info.nih.gov/diseases/7667/thrombotic-thrombocytopenic-purpura

Learn more about the gene associated with Thrombotic thrombocytopenic purpura

Thrombotic thrombocytopenic purpura (TTP) is a rare blood disorder that causes blood clots to form throughout the body. It is associated with a gene called ADAMTS13, which codes for a protein that plays a crucial role in regulating blood clotting.

The ADAMTS13 gene is located on chromosome 9 and has been found to be responsible for the production of the ADAMTS13 protein. This protein specifically works on breaking down von Willebrand factor (vWF) in the blood, which is important for preventing excessive blood clot formation.

In patients with TTP, the ADAMTS13 gene is either mutated or inactive, leading to a deficiency in the ADAMTS13 protein. Without this protein, vWF is not properly broken down, causing platelets to stick together and form blood clots. These clots can block blood flow to various organs, leading to the symptoms of TTP.

Research has shown that mutations in the ADAMTS13 gene are the primary cause of congenital TTP, a form of the disease that is present from birth. In acquired TTP, the gene may not be mutated, but it can still be inactive due to autoimmune responses or other factors.

Testing for genetic mutations in the ADAMTS13 gene can help confirm a diagnosis of TTP and provide more information about the specific genetic cause of the condition in a patient. This information can be useful for understanding the inheritance pattern, counseling patients about the risk of passing the disease to their children, and developing targeted therapies.

Additional information and resources about the ADAMTS13 gene and Thrombotic thrombocytopenic purpura can be found at the following sources:

The National Center for Biotechnology Information (NCBI) Genes & Disease webpage: This resource provides scientific articles, references, and additional information about the ADAMTS13 gene and its association with TTP. (https://www.ncbi.nlm.nih.gov/gene/11093)
The Online Mendelian Inheritance in Man (OMIM) catalog: This database provides detailed information about genetic disorders, including TTP and potential associated genes. (https://www.omim.org/entry/613112)
PubMed: A search on the PubMed database can provide access to various research studies and articles related to the ADAMTS13 gene and TTP. (https://pubmed.ncbi.nlm.nih.gov/)
The Thrombotic Thrombocytopenic Purpura (TTP) & Hemolytic Uremic Syndrome (HUS) Registry: This advocacy organization offers support and information for patients and families affected by TTP, including information about the genetic aspects of the condition. (https://www.ttpregistry.org/)
ClinicalTrials.gov: This database lists ongoing and completed clinical trials related to TTP, including studies investigating the genetic factors and inheritance patterns associated with the disease. (https://clinicaltrials.gov/)

By learning more about the ADAMTS13 gene and its association with Thrombotic thrombocytopenic purpura, we can gain a better understanding of the underlying genetic causes of the disease and support the development of targeted treatments and therapies for patients.

Inheritance

Thrombotic thrombocytopenic purpura (TTP) can be associated with both genetic and acquired causes. In about 10% of cases, TTP is caused by a genetic mutation in the ADAMTS13 gene, which is responsible for regulating the activity of a protein involved in clotting. This genetic form of TTP is inherited in an autosomal recessive manner, meaning that an affected individual must inherit two copies of the mutated gene, one from each parent, to develop the disease.

During pregnancy, TTP can also be triggered by the presence of additional factors in the body. These factors, along with genetic causes, can lead to a decrease in the activity of ADAMTS13 and an increased risk of blood clots forming in smaller blood vessels.

Research studies and scientific articles have provided valuable information about the inheritance and genetic causes of TTP. Genetic testing can be performed to identify mutations in the ADAMTS13 gene, which may help in diagnosing the disease and determining the risk of developing TTP in other family members who may be carriers of the genetic mutation.

While TTP is a rare condition, it is important for patients and their families to have access to resources for support and advocacy. Organizations such as the Thrombotic Thrombocytopenic Purpura Research and Support Center provide information, resources, and clinical trials for patients and their families to learn more about the disease.

Other Names for This Condition

Thrombotic thrombocytopenic purpura (TTP) is a rare genetic condition characterized by the formation of blood clots in small blood vessels throughout the body, leading to a decrease in platelet count. TTP is also known by the following names:

Moschcowitz syndrome
TTP-HUS (hemolytic-uremic syndrome)
Upshaw-Schulman syndrome

These names reflect different aspects of the condition. Moschcowitz syndrome comes from the name of the physician who first described TTP, while TTP-HUS emphasizes the similarities between TTP and hemolytic-uremic syndrome. Upshaw-Schulman syndrome is named after the researchers who identified the genetic mutation associated with TTP.

For additional information on these other names or to learn more about the frequency and inheritance of TTP, you can refer to the following resources:

OMIM (Online Mendelian Inheritance in Man) – a comprehensive catalog of human genes and genetic disorders, including TTP and related conditions
PubMed – a database of scientific research articles, where you can find studies and clinical trials related to TTP
Genetic testing – genetic testing can help identify the specific genetic mutation associated with TTP in an individual patient
Patient advocacy and support groups – organizations like the TTP Network and the Platelet Disorder Support Association provide resources and support for individuals with TTP

By exploring these resources, you can gain a better understanding of the genetic and clinical factors that contribute to the development of TTP, as well as learn about the latest research and treatment options available for this rare disease.

Additional Information Resources

Thrombotic thrombocytopenic purpura (TTP) is a rare genetic condition characterized by the formation of blood clots in small blood vessels throughout the body. This causes a decrease in platelet count, known as thrombocytopenia, and can lead to organ damage and other complications.

For more information about TTP, you can visit the following resources:

The Thrombotic Thrombocytopenic Purpura Information Center: This website provides detailed information about the disease, its causes, testing, treatment options, and patient support resources. You can learn more about TTP and find additional references and articles related to the condition.
The Online Mendelian Inheritance in Man (OMIM): This online catalog of human genes and genetic disorders includes information about TTP and its associated genes. You can access scientific articles, inheritance patterns, and genetic testing resources.
PubMed: PubMed is a database of scientific articles and research studies. You can search for articles about TTP, its causes, and treatment options using keywords such as “thrombotic thrombocytopenic purpura” or “ADAMTS13.”
ClinicalTrials.gov: This website provides information about ongoing clinical trials and research studies related to TTP. You can learn about new treatment options, genetic testing studies, and patient advocacy efforts.
Advocacy Organizations: There are several organizations dedicated to supporting individuals and families affected by TTP. These organizations provide educational resources, patient support groups, and advocacy efforts to raise awareness about the condition. Examples include the Thrombotic Thrombocytopenic Purpura Foundation and Thrombosis Canada.

By exploring these resources, you can learn more about the rare genetic condition of thrombotic thrombocytopenic purpura, its genetic factors, and clinical research in this field. This can support your understanding of the disease and the available treatment options.

Genetic Testing Information

Thrombotic thrombocytopenic purpura (TTP) is a rare genetic condition associated with abnormal clotting in the body. The condition is caused by mutations in the ADAMTS13 gene, which plays a role in the breakdown of von Willebrand factor. When this gene is defective or absent, platelets in the blood can form clots too easily, leading to the symptoms of TTP.

Genetic testing for TTP can help determine if a patient has a mutation in the ADAMTS13 gene. This information can be valuable in confirming a diagnosis of TTP and understanding the underlying cause of the disease. Genetic testing can also provide information about the inheritance pattern of TTP and help assess the risk of the condition in other family members.

Genetic testing for TTP is rare and may not be available at all healthcare centers. However, there are resources available to learn more about the genetic factors associated with TTP. The Online Mendelian Inheritance in Man (OMIM) catalog provides an extensive list of genes associated with various diseases, including TTP. Additional scientific articles and research studies can also provide more information on the genetic causes of TTP.

In addition to genetic testing, there are other forms of testing and support available for patients with TTP. ClinicalTrials.gov is a valuable resource for finding ongoing research studies and clinical trials related to TTP. Advocacy organizations such as the Thrombotic Thrombocytopenic Purpura Center can also provide information and support for individuals and families affected by the condition.

Overall, genetic testing for TTP can provide valuable insights into the underlying causes of the disease and help guide treatment decisions. Although genetic testing is rare for TTP, there are other resources available to learn more about the genetic factors associated with the condition.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a valuable resource for patients and their families to find information about thrombotic thrombocytopenic purpura (TTP) and other rare genetic diseases. GARD provides articles and clinical trials information that can support patients in understanding this condition and exploring available treatment options.

TTP is a rare disease characterized by low platelet counts and blood clotting throughout the body. It has a genetic component, with mutations in the ADAMTS13 gene being one of the known causes. Inheritance patterns of the disease can vary, and factors such as pregnancy can increase the frequency of TTP episodes.

GARD provides a catalog of genetic diseases, and TTP is one of the conditions listed. The catalog offers additional resources for patients to learn more about TTP, including links to scientific research studies, information from PubMed and OMIM, and advocacy organizations.

GARD also provides information on genetic testing for TTP and other thrombotic thrombocytopenia disorders, which can help diagnose the condition and determine if specific gene mutations are present. Testing the ADAMTS13 gene can reveal the activity of this gene associated with the clotting process, helping to confirm a diagnosis of TTP.

Patients with TTP can benefit from learning about this condition, as well as connecting with advocacy organizations that provide support and resources. GARD offers a comprehensive source of information for patients seeking to understand TTP and find support from the rare disease community.

Additional Resources:

Patient Support and Advocacy Resources

Patients with Thrombotic Thrombocytopenic Purpura (TTP) can find support and advocacy resources throughout the medical community. These resources provide information about the condition, genetic inheritance, and available treatments.

Research Studies from ClinicalTrials.gov

Thrombotic thrombocytopenic purpura (TTP) is a rare genetic disease characterized by the formation of blood clots throughout the body, leading to a decrease in platelet count and the destruction of red blood cells. The condition is caused by mutations in the gene ADAMTS13, which is responsible for regulating the activity of clotting factors in the blood.

Research studies from ClinicalTrials.gov provide valuable information and resources for patients with TTP and other rare genetic diseases. These studies aim to test new treatments, understand the causes and inheritance of the disease, and learn more about the frequency and associated factors of TTP.

The ClinicalTrials.gov website serves as a central catalog for information about ongoing and completed research studies. It provides names and descriptions of studies, information about patient eligibility and study locations, and references to additional scientific articles. Patients and their families can use this resource to find support and learn more about the condition.

One of the main research focuses is on genetic testing for TTP. Studying the genetic makeup of individuals with TTP can help identify specific gene mutations and understand how they contribute to the development of the disease. Genetic testing can also provide valuable information for patient management and guide treatment decisions.

In addition to genetic studies, research is also being conducted on the role of pregnancy in TTP. The condition can worsen during pregnancy, and understanding the factors that contribute to this worsening can help improve patient care and support.

Advocacy groups like the Thrombotic Thrombocytopenic Purpura Foundation provide resources and support for patients and their families. These organizations aim to raise awareness about TTP, promote research, and provide educational materials and support services.

Overall, research studies from ClinicalTrials.gov are advancing our understanding of thrombotic thrombocytopenic purpura and guiding the development of new treatments. The information and resources available through these studies are invaluable for patients and healthcare providers working to manage this rare genetic condition.

Catalog of Genes and Diseases from OMIM

Thrombotic thrombocytopenic purpura (TTP) is a rare genetic disorder characterized by clotting in small blood vessels throughout the body, leading to a decrease in platelet count (thrombocytopenia). The main cause of TTP is a deficiency in the ADAMTS13 protein, which is responsible for breaking down von Willebrand factor (VWF) in the blood.

OMIM (Online Mendelian Inheritance in Man) is a catalog of human genes and genetic disorders that provides valuable information on the inheritance, clinical features, and molecular basis of various diseases, including TTP.

The OMIM catalog includes the names of genes associated with TTP, such as ADAMTS13. It also provides information on the genetic factors and inheritance patterns of the disease, as well as additional resources for learning more about TTP and related conditions.

OMIM references scientific articles, clinical trials (such as those registered on ClinicalTrials.gov), and research studies that have investigated the genetic causes and clinical aspects of TTP. These resources support the advancement of knowledge in the field and help guide patient care and testing.

In addition to providing information on the genetic aspects of TTP, OMIM also includes resources for patients and advocacy groups. These resources offer support and information on managing the condition, as well as opportunities for involvement in advocacy efforts and research studies.

The OMIM catalog is a valuable tool for researchers, healthcare professionals, and individuals interested in studying or learning more about thrombotic thrombocytopenic purpura. It provides a comprehensive overview of the genes associated with TTP, the clinical features of the condition, and the latest research and resources available for further exploration.

Key Information from OMIM:
Genes	Clinical Features	References
ADAMTS13	Thrombocytopenia, thrombotic purpura, decreased ADAMTS13 activity	PubMed, OMIM
Other Genes	Rarely associated with TTP	PubMed, OMIM

OMIM is a valuable resource for understanding the genetic basis of thrombotic thrombocytopenic purpura and can provide important insights into the diagnosis, management, and treatment of this rare condition.

Scientific Articles on PubMed

Thrombotic thrombocytopenic purpura (TTP) is a rare genetic disease characterized by the formation of blood clots in small blood vessels throughout the body. This condition is also known as thrombotic microangiopathy.

The primary cause of TTP is a deficiency in the ADAMTS13 gene, which is responsible for regulating the activity of a protein called von Willebrand factor. When there is a mutation or dysfunction in this gene, it can lead to the buildup of von Willebrand factor and the formation of abnormal blood clots.

Scientific articles on PubMed provide more information about TTP and its genetic causes. These studies support the identification of gene mutations and other genetic factors associated with TTP. Researchers have also conducted clinical trials to test new treatments and therapies for this condition.

Patients with TTP may experience symptoms such as thrombocytopenia (low platelet count), purpura (purple spots on the skin), and clotting in various organs. It is important to diagnose and treat TTP promptly, as it can be life-threatening if left untreated.

Testing for ADAMTS13 activity and gene mutations can help confirm a diagnosis of TTP. Genetic counseling and testing are recommended for individuals with a family history of TTP or other genetic clotting disorders.

There are several resources available for patients and families affected by TTP. These include advocacy organizations, support groups, and online forums where individuals can learn more about the condition and connect with others facing similar challenges.