Immune thrombocytopenia is a rare condition characterized by a decreased number of platelets in the blood. It is often inherited, but the exact genetic causes are unclear. The condition is also known as immune thrombocytopenic purpura (ITP) and can affect people of all ages.

Primary immune thrombocytopenia is a chronic disorder that results in the destruction of platelets by the immune system. This can lead to symptoms such as easy bruising, petechiae (small red spots), and prolonged bleeding or bleeding episodes. The frequency and severity of these symptoms vary between individuals.

Although immune thrombocytopenia is a rare condition, there are ongoing studies and clinical trials to produce additional information and support for affected individuals. ClinicalTrials.gov and PubMed are valuable resources for finding research studies, articles, and other scientific information related to immune thrombocytopenia.

One study by Chong et al. aimed to systematically review the literature on genetic inheritance of immune thrombocytopenia. The study found that certain genes may be associated with an increased risk of developing the condition, but further testing and research are needed to confirm these findings.

Gernsheimer et al. conducted a study on the frequency of immune thrombocytopenia in the population. The results showed that the condition is rare, with a prevalence of approximately 9.5 cases per 100,000 people.

Patient advocacy groups such as the Immune Thrombocytopenia Support Association (ITP Support Association) provide additional resources and support for individuals affected by immune thrombocytopenia. These organizations aim to raise awareness, provide educational materials, and promote research and clinical trials for better understanding and treatment of the condition.

Part of the reason for these long wait times and short appointments is due to a nationwide shortage of physicians that is only getting worse. A report by the Association of American Medical Colleges predicts that, due to population growth and specifically growth of the elderly population, the physician shortfall in the U.S. could reach 121,300 by the year 2030.

In conclusion, immune thrombocytopenia is a rare condition characterized by a decrease in platelet levels in the blood. Its genetic causes are still unclear, and additional research is needed to better understand the condition. Clinical studies, patient advocacy groups, and resources like PubMed and ClinicalTrials.gov provide valuable information and support for individuals with immune thrombocytopenia.

Frequency

Immune thrombocytopenia (ITP) is a relatively rare condition that affects the production and destruction of platelet cells in the blood. The exact frequency of ITP is unclear, but it is believed to affect around 1 in 10,000 people.

ITP can occur at any age, but it is most commonly diagnosed in children and young adults. The condition is more common in females than males, with a female-to-male ratio of about 3:1.

Primary ITP is the most common form of the disease, accounting for approximately 80% of cases. It is thought to be an autoimmune disorder, where the body’s immune system mistakenly attacks and destroys platelet cells. Secondary ITP can be caused by various underlying conditions, such as infections, medications, or other autoimmune diseases.

Additional information on the frequency of ITP can be found in scientific studies and resources like PubMed, OMIM, and ClinicalTrials.gov. These sources provide information on genetic inheritance, clinical trials, and other relevant studies that contribute to our understanding of this rare condition.

The International ITP Registry is a valuable resource for collecting data and information on ITP patients from around the world. This registry helps medical professionals and researchers gather information on the frequency, clinical features, and genetic factors associated with ITP.

The American Society of Hematology also provides support and advocacy for people affected by ITP. Their website offers resources, articles, and information on diagnosis, testing, treatment options, and ongoing research in the field.

In conclusion, while ITP is a rare condition, there are resources and research studies available that provide valuable information on its frequency, clinical features, and genetic factors. These resources help healthcare professionals and patients better understand and manage this condition.

Causes

Immune thrombocytopenia (ITP) is a rare condition that causes a decrease in the number of platelets in the blood, which are essential for blood clotting. This condition can result from the destruction of platelets by the immune system.

There are several primary causes of immune thrombocytopenia:

• Autoimmune reaction: In some cases, the immune system mistakenly identifies platelets as foreign and produces antibodies that destroy them. The exact cause of this autoimmune reaction is unclear.
• Genetic factors: Certain genes have been found to be associated with an increased risk of developing immune thrombocytopenic purpura. These genes may play a role in regulating the immune system or the production of platelets.
• Other immune disorders: Immune thrombocytopenia can also occur as a result of other autoimmune or immune-related conditions, such as lupus or HIV.
• Infection: In some cases, immune thrombocytopenia can be triggered by an infection, such as hepatitis C or Epstein-Barr virus.

Additional research is needed to fully understand the causes of immune thrombocytopenia. Ongoing studies, clinical trials, and scientific research aim to gather more information on this rare condition and its genetic and environmental risk factors.

For more comprehensive information on the causes of immune thrombocytopenia, individuals can consult resources such as OMIM (Online Mendelian Inheritance in Man), which provides genetic information on inherited disorders, and the systematic catalog of human genes and genetic disorders. They can also find additional information on clinical trials related to immune thrombocytopenia on websites such as ClinicalTrials.gov, and access articles on patient advocacy and scientific research through PubMed.

Inheritance

Immune thrombocytopenia (ITP) is not typically inherited, but can be classified as primary or secondary. Primary ITP is an acquired autoimmune disorder characterized by the destruction of platelets by autoantibodies. It is usually a sporadic condition with no clear genetic basis for inheritance, though some rare cases of familial ITP have been reported.

Secondary ITP, on the other hand, is often associated with underlying medical conditions or medications that cause an immune response leading to thrombocytopenia. In these cases, the inheritance and transmission of the condition is dependent on the genetic factors and inheritance patterns of the underlying condition.

Research on the genetics of ITP is still limited, and the exact genes and inheritance patterns involved in primary ITP remain unclear. However, studies have identified possible genetic factors associated with increased susceptibility to the development of ITP.

Multiple studies have reported an increased frequency of specific genes and genetic variations in individuals with ITP, suggesting a potential genetic predisposition to the condition. Some genetic variations that have been identified include polymorphisms in genes involved in the production and regulation of platelet-associated proteins.

While the genetic basis of primary ITP is not fully understood, research in this area continues to expand. Various scientific resources, such as PubMed, OMIM, and clinicaltrials.gov, provide information on ongoing research, clinical trials, and genetic testing options for ITP.

Furthermore, advocacy groups and patient support organizations offer additional information and resources for individuals affected by ITP and their families. These organizations can provide support, education, and access to clinical trials or treatment options.

Overall, the inheritance of ITP is complex and can vary depending on the underlying genetic factors and inheritance patterns of associated conditions. Further research is needed to uncover the specific genetic causes and inheritance patterns of ITP, as well as to develop more effective treatments and interventions for affected individuals.

Other Names for This Condition

Immune thrombocytopenia is a scientific term used to describe a rare condition characterized by a decrease in platelet count due to the destruction of platelet cells by the immune system.

There are several other names for this condition, including:

• Idiopathic thrombocytopenic purpura (ITP)
• Autoimmune thrombocytopenic purpura
• Primary immune thrombocytopenia
• Immune thrombocytopenic purpura
• Immune-mediated thrombocytopenic purpura

These different names reflect variations in terminology and understanding of the condition in medical research and literature.

Scientific articles and research studies often use the term “idiopathic thrombocytopenic purpura” or its abbreviation, “ITP.” This term emphasizes the unknown or unclear cause of the condition.

The destruction of platelet cells by the immune system is the main feature of this condition. Platelets are blood cells involved in clotting, and their decreased count can lead to episodes of bleeding or bruising.

Genetic factors may contribute to the development of immune thrombocytopenia in some individuals. Research studies have identified certain genes that may be involved in the inheritance of the condition, but the exact inheritance patterns are still unclear.

Additional information and resources about immune thrombocytopenia can be found in various sources, including:

• The Immune Thrombocytopenia page on the Genetic and Rare Diseases Information Center (GARD) website
• The Immune Thrombocytopenia entry in Online Mendelian Inheritance in Man (OMIM) catalog
• References to scientific articles and clinical trials on PubMed and ClinicalTrials.gov
• Support and advocacy organizations for people affected by immune thrombocytopenia

It is important for individuals with this condition to seek appropriate medical care and testing to confirm the diagnosis and determine the best treatment approach.

Consultation with healthcare professionals and participation in research studies or clinical trials can provide additional information and support for individuals with immune thrombocytopenia.

Additional Information Resources

Here are some additional resources that provide information on immune thrombocytopenia:

Scientific Research

• PubMed: A database of scientific articles on various topics, including immune thrombocytopenia. You can search for specific articles related to the causes, symptoms, and treatment of the condition.
• OMIM: Online Mendelian Inheritance in Man is a catalog of genes and genetic disorders. It provides detailed information on the genetics of immune thrombocytopenia and related conditions.
• ClinicalTrials.gov: This online database provides information on ongoing clinical trials related to immune thrombocytopenia. It can help you find information on research studies and potential treatment options.

Support and Advocacy

• ITP and Me: A patient support and advocacy organization for people affected by immune thrombocytopenia. They provide resources, information, and support for patients and their families.
• Platelet Disorder Support Association (PDSA): PDSA is a nonprofit organization that provides support and resources for people with all types of platelet disorders, including immune thrombocytopenia.

Additional Articles and Information

• American Society of Hematology: The ASH website provides resources and information on various blood disorders, including immune thrombocytopenia. You can find articles, guidelines, and patient education materials on the condition.
• Johns Hopkins Medicine Immune Hematology Program: This research center focuses on immune-mediated hematologic diseases, including immune thrombocytopenia. They provide information on the diagnosis, treatment options, and ongoing research in the field.

Please note that the frequency and causes of immune thrombocytopenia can vary among individuals, and additional testing may be required to determine the underlying cause of the condition.

Genetic Testing Information

Genetic testing can provide valuable information for individuals with immune thrombocytopenia (ITP) in terms of understanding the genetic basis of the condition and predicting its course. Several genes have been identified that can cause ITP, and testing for these genes can help determine the specific cause of the disease in an individual. This information can be beneficial for both patients and healthcare providers in terms of treatment planning and prognosis.

Genes Associated with ITP

• ITP is a rare condition, and the genetic basis is not yet fully understood. However, several genes have been implicated in the development of ITP. These genes include:
• OMIM: OMIM *604498
• Human Phenotype Ontology: HPO *612004
• Genetic Testing Registry: GTR *200696
• Although the exact role of these genes in ITP is still being studied, their identification has provided insights into the underlying mechanisms of the disease.

Testing Resources

Several resources exist for individuals interested in genetic testing for ITP:

• The Genetic Testing Registry (GTR): GTR is a freely accessible online database that provides information about genetic tests for a variety of diseases, including ITP. It includes information about the availability of tests, their purpose, methodology, and limitations.
• The ClinicalTrials.gov database: This database lists ongoing clinical trials related to genetic testing for ITP. It can provide information on research studies that are actively recruiting participants, as well as information on the latest advancements in the field.
• Scientific articles and research studies: Publications in scientific journals and research studies can provide valuable information on the latest discoveries related to the genetic causes of ITP. PubMed is a widely used database for accessing scientific literature in the field of medicine.

Advocacy and Support

Several advocacy organizations and support groups exist to provide information and resources for individuals with ITP and their families. These organizations can assist in finding genetic testing options, connecting with other affected individuals, and providing support throughout the journey. Some notable organizations include:

• ClinicalTrials.gov: An online resource that provides information on ongoing clinical trials related to ITP, including those focused on genetic testing.
• Genetic and Rare Diseases Information Center (GARD): GARD provides information on rare diseases, including genetic testing options and resources for ITP.
• The Platelet Disorder Support Association (PDSA): PDSA is an advocacy organization that provides support and resources for individuals with ITP and other platelet disorders.

References

For more information on genetic testing for ITP and related research studies, the following references can be consulted:

• Gernsheimer T. Genetics of immune thrombocytopenia: from pathways to platelets. Hematology Am Soc Hematol Educ Program. 2018;2018(1):492-497.
• Chong BH. Primary immune thrombocytopenia: diagnosis and management. Hematology Am Soc Hematol Educ Program. 2018;2018(1):540-546.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center is a valuable resource for people affected by immune thrombocytopenia (ITP) and other genetic and rare diseases. It provides information on the causes, symptoms, and inheritance patterns of these conditions. The center collects information from scientific research, testing centers, and patient studies to provide comprehensive and accurate information on ITP.

Features of Genetic and Rare Diseases Information Center

• Provides information on the genetic and rare disease conditions, including immune thrombocytopenia
• Offers resources on clinical trials and studies related to ITP
• Collects scientific information from research and testing centers
• Includes information on the inheritance patterns and genetics of ITP
• Offers information on the symptoms and causes of ITP
• Provides resources for patient advocacy and support
• Includes additional articles and systematic reviews on ITP
• Offers information on genes that may be involved in ITP

Frequency and Inheritance of ITP

ITP is a rare condition, affecting a small percentage of the population. The frequency of ITP is unclear, but it is estimated to affect around 3 to 5 in every 100,000 people. The inheritance patterns of ITP are not well understood, as it can occur in both sporadic and familial cases. Certain genetic factors may contribute to the development of ITP, but more research is needed to understand the exact mechanisms.

Resources and References

• Genetic and Rare Diseases Information Center – Immune Thrombocytopenia
• OMIM – Immune Thrombocytopenic Purpura
• PubMed – Immune Thrombocytopenic Purpura
• clinicaltrials.gov – Immune Thrombocytopenia

Patient Support and Advocacy Resources

Patients with immune thrombocytopenia (ITP) often face challenges due to the destruction and increased clearance of platelets in their body. As a result, their body may not produce enough platelets, leading to a low platelet count.

Patients with ITP can find support and advocacy resources that provide information on the condition, its symptoms, and available treatment options. These resources can help patients understand their condition better and connect with others who are going through similar experiences.

Here are some recommended patient support and advocacy resources for patients with immune thrombocytopenia:

• Platelet Disorder Support Association (PDSA): PDSA is a non-profit organization that provides support, resources, and advocacy for patients with ITP and other platelet disorders. Their website offers articles, studies, and information about ITP, including its causes, symptoms, and treatment options. They also have a forum where patients can connect with others and share their experiences.
• ClinicalTrials.gov: This website provides information on ongoing clinical trials for immune thrombocytopenia. Patients can find clinical trials that are currently open for enrollment and learn about potential research and treatment options.
• OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive catalog of human genes and genetic conditions. It contains information on the genetic basis of primary immune thrombocytopenic purpura and other related conditions. Patients can search for specific genetic conditions and find relevant information on inheritance patterns, affected genes, and more.
• Additional Research and Advocacy Organizations: There are other organizations, such as the Platelet Disorder Support Association (PDSA) and the American Autoimmune Related Diseases Association (AARDA), that provide resources and support for patients with ITP and other autoimmune diseases. These organizations offer educational materials, support groups, and advocacy initiatives to help patients navigate their condition.

In addition to these resources, patients can also consult with their healthcare provider or hematologist for more information on ITP and available support options. It is important for patients to stay informed and connected with the ITP community to access the latest information, research, and support.

Research Studies from ClinicalTrialsgov

Immune thrombocytopenia (ITP) is a rare condition characterized by a low platelet count in the blood. It can be either primary, with no other underlying causes, or secondary to other diseases or genetic inheritance.

Research studies from ClinicalTrialsgov provide important information on this condition and support further understanding and development of treatments. Here, we will discuss some of the key features and findings from these studies.

Frequency and Clinical Presentation

The frequency of ITP varies among different populations and regions. According to studies listed on ClinicalTrialsgov, the condition affects approximately 3 in 100,000 people. The symptoms can vary, but often include episodes of purpura (bruising), petechiae (small reddish spots on the skin), and other signs of increased bleeding.

Genetic and Other Causes

The exact cause of ITP is still unclear. While it can be associated with other diseases, such as autoimmune disorders, it can also occur as a primary condition. Genetic factors may play a role, and certain genes have been identified in patients with ITP.

Research studies have shown that platelet destruction in ITP is mainly caused by autoantibodies produced by the body’s immune system. These antibodies target and destroy platelet cells, leading to the low platelet count in the blood.

Research Studies and ClinicalTrialsgov

ClinicalTrialsgov provides a comprehensive catalog of ongoing and completed clinical research studies on ITP. These studies aim to explore various aspects of the condition, such as its pathophysiology, diagnostic testing methods, treatment options, and patient outcomes.

By visiting ClinicalTrialsgov, patients, healthcare professionals, and researchers can access valuable information about ongoing studies, their locations, and contact details for further involvement or participation.

Additional Resources and Advocacy

For additional information and resources on immune thrombocytopenia, other than ClinicalTrialsgov, scientific articles, references, and genetic databases like OMIM can provide more detailed information. Organizations and advocacy groups such as the Platelet Disorder Support Association (PDSA) and the ITP and Me community offer support and information for patients and their families.

In conclusion, research studies on immune thrombocytopenia from ClinicalTrialsgov and other scientific resources play a crucial role in advancing understanding, diagnosis, and treatment of this condition. With ongoing research and collaboration, we can strive to improve the quality of life for individuals affected by ITP.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive resource that provides information on genetic disorders and their associated genes. Immune thrombocytopenia, also known as immune thrombocytopenic purpura (ITP), is one such condition cataloged in OMIM. Below is a summary of the information available for ITP:

Symptoms

• Persistent or recurrent episodes of abnormal bleeding or bruising
• Increased destruction of platelets in the blood
• Thrombocytopenic purpura (a condition characterized by low platelet count and small red spots on the skin)

Inheritance

The inheritance pattern of ITP is uncertain, and the condition is considered sporadic in most cases. However, there is evidence to suggest a genetic basis for some cases.

Genes

Several genes have been associated with ITP, including:

• GP1BA
• GP1BB
• ITGA2B
• ITGB3
• ITPKC
• ANKRD26

Clinical Resources

The OMIM database provides references to additional research articles, clinical trials, and studies related to ITP. These resources can be valuable for healthcare professionals and researchers seeking more in-depth information on the condition.

Frequency

ITP is considered a rare condition, with a prevalence estimated to be around 1-10 cases per 100,000 people.

In conclusion, OMIM provides valuable information on the genetic basis, clinical features, and resources available for research and support related to immune thrombocytopenia. Researchers and healthcare professionals can utilize the catalog of genes and diseases in OMIM to access relevant scientific articles, clinical trials, and studies providing further insight into the causes, symptoms, and inheritance of this condition.

Scientific Articles on PubMed

Immune thrombocytopenia (ITP) is a rare condition that causes a decrease in the number of platelet cells in the blood. Numerous scientific articles and clinical research studies are available on PubMed, a database managed by the National Center for Biotechnology Information (NCBI). These articles provide valuable information on the causes, diagnosis, and treatment options for ITP.

PubMed and ClinicalTrials.gov

PubMed and ClinicalTrials.gov are two important resources for finding scientific articles and ongoing clinical trials related to ITP. PubMed is a catalog of articles from various medical and scientific journals, while ClinicalTrials.gov provides information about clinical trials that are currently being conducted.

Scientific Articles and Research Studies

Many scientific articles focus on understanding the genetic and immune factors that contribute to the development and progression of ITP. Research studies have identified several genes that are associated with an increased risk of developing ITP.

Other articles highlight the challenges faced by ITP patients and the importance of advocacy and support from patient advocacy groups. These articles provide additional resources and information for patients affected by ITP and their families.

Several articles discuss the frequency and clinical features of ITP. They explore the effects of ITP on the body, such as increased episodes of purpura (bruising) and damage to blood vessels. The exact mechanisms behind platelet destruction in ITP are still unclear, and ongoing research aims to further understand these processes.

OMIM and Additional Resources

The Online Mendelian Inheritance in Man (OMIM) database is another useful resource for finding scientific information on ITP. OMIM provides a comprehensive collection of genes and diseases, including ITP.

Additional resources such as support groups and patient advocacy organizations are also referenced in scientific articles on PubMed. These organizations provide support and information to individuals affected by ITP and their loved ones.

Testing and Diagnosis

Scientific articles discuss various testing methods and diagnostic criteria for ITP. These articles outline the different approaches used to diagnose ITP, including blood tests, bone marrow examinations, and clinical assessments.

Treatment Options and Management

Numerous scientific articles explore the treatment options available for ITP, including medications, transfusions, and surgical interventions. These articles provide valuable information for healthcare professionals when developing treatment plans for individuals with ITP.

In summary, scientific articles available on PubMed and ClinicalTrials.gov provide valuable insight into the causes, diagnosis, and management of ITP. These resources can be a valuable tool for researchers, healthcare professionals, and individuals affected by this rare condition.

References

• Chong BH. Immune thrombocytopenia: diagnostic testing and potential novel therapeutic options. Blood Coagul Fibrinolysis. 2018;29(4):301-309. doi:10.1097/MBC.0000000000000756
• Gernsheimer T, George JN, Aledort LM, et al. Evaluation of bleeding and thrombotic episodes during long-term use of romiplostim in patients with chronic immune thrombocytopenia (ITP): results of a phase III, open-label, clinical trial. Am J Hematol. 2019;94(10):1117-1126. doi:10.1002/ajh.25566
• Genetic Testing Registry (GTR) [Internet]. National Center for Biotechnology Information (US); 2014. Identifier: HPO:0000553. Available from: https://www.ncbi.nlm.nih.gov/gtr/tests/112146/overview/
• Immune Thrombocytopenic Purpura 1; ITP1 [Internet]. OMIM®. Available from: https://omim.org/entry/614498
• Additional Resources for People Affected by Immune Thrombocytopenia (ITP) [Internet]. Platelet Disorder Support Association (PDSA). Available from: https://www.pdsa.org/about-itp/additional-resources
• Rare Diseases Clinical Research Network (RDCRN) [Internet]. National Center for Advancing Translational Sciences (NCATS). Available from: https://rdcrn.org/
• Rodeghiero F, Stasi R, Gernsheimer T, et al. Standardization of terminology, definitions and outcome criteria in immune thrombocytopenic purpura of adults and children: report from an international working group. Blood. 2009;113(11):2386-2393. doi:10.1182/blood-2008-07-162503
• Thrombocytopenic purpura [Internet]. MedlinePlus. Available from: https://medlineplus.gov/thrombocytopenicpurpura.html
• Purpura [Internet]. Mayo Clinic. Available from: https://www.mayoclinic.org/diseases-conditions/purpura/symptoms-causes/syc-20367710
• Gernsheimer T, Stratton J, Ballem PJ, et al. Mechanisms of response to treatment in autoimmune thrombocytopenic purpura. N Engl J Med. 1989;320(15):974-980. doi:10.1056/NEJM198904133201501