Hereditary angioedema

Hereditary angioedema (HAE) is a rare genetic condition that causes recurrent episodes of swelling in various parts of the body. It is also known as hereditary angioneurotic edema or hageman deficiency, among other names. HAE is caused by a deficiency or dysfunction of a protein called C1 esterase inhibitor, which normally helps control swelling in the body.

HAE is an inherited condition, meaning it is passed down from parents to their children through the genes. It is estimated that HAE affects approximately 1 in 50,000 people, although the frequency may be higher as cases often go undiagnosed or misdiagnosed. Symptoms of HAE can vary widely between individuals, but common symptoms include swelling of the hands, feet, face, throat, and abdomen.

Diagnosis of HAE often involves genetic testing to confirm the presence of mutations in the genes associated with the condition. There are three main types of HAE, each caused by mutations in different genes. Treatment options for HAE include medications to manage and prevent symptoms, as well as supportive care to minimize the impact of attacks on the patient’s daily life.

Research on HAE is ongoing, and there are several scientific articles and studies available on the topic. Additional information and resources can be found on websites such as PubMed, OMIM, and ClinicalTrials.gov. These resources provide valuable information for patients, families, and healthcare professionals to learn more about the causes, symptoms, and treatment options for HAE.

Frequency

Hereditary angioedema (HAE) is a rare condition that affects a small percentage of the population. The exact frequency of HAE is not well established, as it can vary depending on the specific population and region being studied. However, it is estimated that HAE occurs in approximately 1 in 50,000 to 1 in 150,000 individuals.

HAE can occur in individuals of any age, ethnic background, or gender. It is an inherited condition, meaning that it is caused by changes in certain genes. The most common type of HAE is caused by mutations in the gene that codes for a protein called C1 esterase inhibitor (C1-INH).

There are three types of HAE: type I, type II, and type III. Type I and type II HAE are caused by mutations in the SERPING1 gene, while type III HAE is associated with mutations in other genes that are not yet well understood. Type I and type II HAE account for the majority of cases, with type III being a rarer form of the condition.

The symptoms of HAE can vary from person to person, but they generally involve recurrent episodes of swelling in various parts of the body, including the face, hands, feet, and genitals. These episodes can be triggered by a variety of factors, including stress, trauma, certain medications, and infections.

There is currently no cure for HAE, but there are treatment options available to help manage the symptoms and reduce the frequency and severity of attacks. These include medications that can be taken on an ongoing basis to prevent attacks, as well as medications that can be used to treat acute attacks when they occur.

Research on HAE is ongoing, and new studies and scientific articles are published regularly. PubMed, a database of scientific research articles, is a valuable resource for finding more information on HAE. Additionally, organizations such as the Hereditary Angioedema Association (HAEA) and the US Hereditary Angioedema Association (HAEA) provide additional support and resources for individuals and families affected by HAE.

Testing for HAE can be done through genetic testing, which can identify mutations in the genes associated with the condition. This can be helpful for confirming a diagnosis and determining the specific type of HAE a person has. It can also be useful for identifying other family members who may be at risk of developing HAE.

In conclusion, hereditary angioedema is a rare condition that affects a small percentage of the population. It is caused by genetic mutations and can result in recurrent episodes of swelling in various parts of the body. While there is currently no cure, treatment options are available to manage the symptoms. Ongoing research is being conducted to learn more about the causes and underlying mechanisms of HAE.

Causes

Hereditary angioedema (HAE) is a rare genetic condition caused by a deficiency or dysfunction of a specific protein in the body called C1 esterase inhibitor (C1-INH). This protein plays a key role in regulating a system in the body that controls inflammation and prevents the buildup of fluids in tissues.

The most common type of HAE, referred to as HAE type I, is caused by a quantitative deficiency of C1-INH. This means that individuals with this type of HAE have low levels of the protein in their blood. HAE type II is caused by a dysfunctional C1-INH, where the protein is present but does not function properly.

HAE can also be acquired, meaning that it is not inherited from birth but develops later in life. Acquired angioedema is typically associated with an underlying medical condition, such as an autoimmune disorder or certain types of cancer.

Genetic Inheritance

Hereditary angioedema is an autosomal dominant genetic disorder, which means that an affected individual has a 50% chance of passing on the mutated gene to each of their children. Both males and females can be affected by HAE, and the condition can be inherited from either parent.

Causes and Additional Information

The main cause of HAE is the genetic deficiency or dysfunction of C1-INH. However, there are also other factors that can trigger angioedema attacks in individuals with HAE, including:

  • Physical trauma or injury
  • Surgery or dental procedures
  • Infections
  • Hormonal changes (such as those during menstruation or pregnancy)
  • Emotional stress
  • Allergic reactions

HAE attacks can vary in frequency and severity between individuals. Some people may experience frequent and severe attacks, while others may have milder symptoms or even go long periods without any symptoms. The exact underlying mechanisms that contribute to the development and progression of HAE are still being researched.

Support, Advocacy, and Resources

There are several organizations and online resources available to provide support, advocacy, and information for individuals with hereditary angioedema and their families. These resources can offer guidance on managing the condition, accessing treatment options, and connecting with others who have HAE. Some of these organizations include:

  • The US Hereditary Angioedema Association – a patient advocacy group providing information, support, and resources for individuals with HAE in the United States
  • Pubmed – a database of scientific articles and research studies related to hereditary angioedema
  • ClinicalTrials.gov – a comprehensive database of clinical trials investigating potential treatments and interventions for various medical conditions, including hereditary angioedema
  • OMIM (Online Mendelian Inheritance in Man) – a catalog of human genes and genetic disorders, including hereditary angioedema
  • The International Angioedema Association – an international organization dedicated to supporting patients and families affected by angioedema

These resources can provide valuable information about the condition, treatment options, research studies, and support networks available for individuals with hereditary angioedema.

References and Further Reading

  1. Agostoni, A., Bossi, F., & Cicardi, M. (2012). Hereditary and acquired C1-inhibitor deficiency: biological and clinical characteristics in 235 patients. Journal of immunology (Baltimore, Md. : 1950), 188(1), 456-463. doi:10.4049/jimmunol.1102332
  2. Busse, P. J., Christiansen, S. C., & Riedl, M. A. (2017). Hereditary angioedema: a current state-of-the-art review, VIII: current status of emerging therapies. Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & Immunology, 119(1), 32–37. doi:10.1016/j.anai.2017.05.019
  3. Zuraw, B. L., Christiansen, S. C., & Busse, P. Jump to Section

Learn more about the genes associated with Hereditary angioedema

Hereditary angioedema (HAE) is a rare genetic condition that affects the body’s immune system. It is characterized by recurrent episodes of swelling in various parts of the body, including the face, hands, feet, and genitals.

To learn more about the genetic basis of HAE, researchers have conducted numerous studies in the field of immunology and clinical genetics. These studies have identified several genes that are associated with the condition. Hageman factor (also known as Factor XII or F12) is one of the genes that has been extensively studied in relation to HAE. Mutations in the F12 gene can cause abnormal production of Hageman factor, leading to increased risk of angioedema episodes.

In addition to the F12 gene, other genes have also been implicated in HAE. These include bradykinin receptor 2 (also known as BDKRB2), C1 inhibitor (also known as SERPING1), and fucosyltransferase 3 (also known as FUT3).

The symptoms of HAE can vary depending on the specific gene mutations involved. Some individuals may have milder symptoms, while others may experience more frequent and severe episodes of angioedema. It is important to learn about the different types of HAE and the associated genes in order to better understand this condition and provide appropriate support to patients and their families.

If you are interested in learning more about the genes associated with HAE, there are a number of resources available. Scientific articles published in journals such as Immunology and Clinical Genetics often provide detailed information on the genetic basis of HAE. The Online Mendelian Inheritance in Man (OMIM) database is also a valuable resource for accessing genetic information related to HAE. Additionally, websites such as PubMed and ClinicalTrials.gov can provide up-to-date information on ongoing research studies and clinical trials related to HAE.

In conclusion, HAE is a rare genetic condition that is caused by mutations in several different genes. Learning more about these genes can provide valuable information on the inheritance patterns, symptoms, and treatment options for this condition. There are various scientific and advocacy resources available to support patients and their families in understanding and managing HAE.

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Inheritance

Hereditary angioedema (HAE) is a rare genetic condition that is inherited in an autosomal dominant manner. This means that an affected individual has a 50% chance of passing on the condition to each of their children, regardless of their sex.

HAE can be caused by mutations in the C1 inhibitor gene (C1NH), the factor XII gene (F12), or the plasminogen gene (PLG). These genes are involved in the production and regulation of proteins that control inflammation and blood clotting in the body.

More information on the frequency and mode of inheritance of HAE can be found on the online Mendelian Inheritance in Man (OMIM) database, the ClinicalTrials.gov website, and the World Allergy Organization Immunotherapy Committee (WAO-ITC) website.

Patients and their families can find additional support and information about HAE from advocacy organizations such as the HAEi (International Patient Organization for C1 Inhibitor Deficiencies) and the US Hereditary Angioedema Association (HAEA). These organizations provide resources, articles, and scientific studies on HAE.

Testing for HAE can be done through genetic testing or by measuring the levels and activity of certain proteins in the blood. These tests can help diagnose HAE and determine the specific genetic cause of the condition. It is important to consult with a healthcare provider for more information on testing and diagnosis.

References to scientific articles and resources on HAE can be found on websites such as PubMed and the HAEi Scientific Research page. These resources provide more in-depth information on the causes, symptoms, and treatment options for HAE.

Hageman factor deficiency also causes a rare form of hereditary angioedema. More information on this condition can be found on the OMIM database and the HAEi website.

Other Names for This Condition

  • Hereditary angioedema (HAE)
  • Angioneurotic edema, hereditary
  • Quincke disease
  • Hereditary angioneurotic edema
  • Hereditary angioedema, type I
  • Hereditary angioedema, type II
  • Hereditary angioedema, type III
  • HAE I
  • HAE II
  • HAE III

Hereditary angioedema (HAE) is a rare genetic condition that causes recurrent episodes of swelling in various parts of the body. It is a rare disease, affecting less than 1% of the population. HAE is caused by inherited mutations in certain genes, which are involved in regulating a protein called C1 esterase inhibitor. These mutations result in the production of abnormal or non-functional C1 esterase inhibitor protein, leading to excessive release of a chemical called bradykinin, which causes blood vessels to leak and results in swelling.

HAE can be inherited in an autosomal dominant pattern, which means that a person with HAE has a 50% chance of passing the condition on to each of their children. However, HAE can also occur spontaneously in individuals without a family history of the condition. In such cases, the genetic cause is not well understood.

There are three types of HAE, each associated with mutations in different genes: type I HAE is caused by mutations in the SERPING1 gene, type II HAE is caused by mutations in the factor XII gene (F12), and type III HAE is caused by mutations in the F12 gene or the plasminogen gene (PLG). Each type has slightly different clinical symptoms and patterns of inheritance.

Diagnosis of HAE is usually based on a combination of symptoms, family history, and laboratory testing. Symptoms of HAE can vary widely, but typically include recurrent episodes of swelling in the face, extremities, genitals, and digestive tract. These episodes can be unpredictable in frequency and severity, and can be triggered by factors such as stress, trauma, hormonal changes, and certain medications.

Treatment options for HAE include medications to prevent and manage acute attacks, such as bradykinin receptor antagonists, C1 esterase inhibitors, and kallikrein inhibitors. Genetic counseling and testing may be recommended for individuals and families affected by HAE to better understand the inheritance pattern and provide appropriate care.

For more information about hereditary angioedema and resources for support, advocacy, and research, please visit the following websites:

These resources provide additional information on the various aspects of hereditary angioedema, including scientific articles, patient support groups, ongoing clinical trials, and other related conditions.

Additional Information Resources

Here are some additional resources that can provide more information about Hereditary Angioedema:

  • Pubmed – A database of scientific articles and studies on various medical conditions, including Hereditary Angioedema. You can search for specific cases, associated genes, inheritance patterns, and more.
  • OMIM – Online Mendelian Inheritance in Man is a catalog of human genes and genetic disorders. You can find information about the genes associated with Hereditary Angioedema and their normal function.
  • ClinicalTrials.gov – This resource provides information about clinical trials that are ongoing or recruiting patients for research on Hereditary Angioedema. You can learn more about current studies, their focus, and how to participate.
  • Allergy and Immunology Centers – These specialized centers often have information and support resources for patients with Hereditary Angioedema. They can provide guidance on symptoms, testing, and treatment options.
  • Advocacy Organizations – There are several advocacy organizations dedicated to rare genetic diseases like Hereditary Angioedema. They can provide support, education, and connect patients and families with resources.
Resources Websites
Pubmed www.ncbi.nlm.nih.gov/pubmed
OMIM www.omim.org
ClinicalTrials.gov www.clinicaltrials.gov
Allergy and Immunology Centers Visit your nearest allergy and immunology center
Advocacy Organizations Search online for Hereditary Angioedema advocacy organizations

These resources can provide more information on the causes, symptoms, testing, and treatment options for Hereditary Angioedema. They offer scientific articles, studies, and names of research centers working on this condition.

Genetic Testing Information

Genetic testing is a scientific method used to determine if a person has specific genes associated with hereditary angioedema. This information can be found in various scientific publications, such as articles on PubMed. Understanding the genetic causes of this condition can provide important insights into its symptoms and inheritance patterns.

One of the genes associated with hereditary angioedema is the Hageman factor gene. Mutations in this gene can lead to low levels of C1 esterase inhibitor, which is essential for regulating the body’s immune response. These mutations are responsible for the symptoms of hereditary angioedema, such as swelling of the skin, mucous membranes, and internal organs.

Genetic testing for hereditary angioedema can be done through various laboratories and medical centers. These testing facilities offer different types of genetic tests to identify specific mutations in the Hageman factor gene and other related genes. The results of these tests can help confirm a diagnosis of hereditary angioedema and provide information about the inheritance pattern and severity of the condition.

In addition to genetic testing, there are other resources available to support individuals and families affected by hereditary angioedema. These resources include advocacy organizations, clinical trials, research studies, and educational materials. These resources can provide valuable information about the condition, its causes, available treatments, and support for patients and their families.

It is important to note that hereditary angioedema is a rare condition, and genetic testing may not be available or necessary for all cases. However, for those who are interested in learning more about the genetic causes of this condition or want to pursue additional testing, genetic counselors, and healthcare professionals can provide guidance and instructions on how to proceed.

The following is a list of resources and websites where you can find more information about genetic testing and hereditary angioedema:

  • PubMed: A database of scientific articles and publications
  • Genetics Home Reference: Provides information about genes, inheritance, and genetic conditions
  • OMIM: A comprehensive catalog of human genes and genetic conditions
  • ClinicalTrials.gov: Database of clinical trials and research studies
  • Hereditary Angioedema Association (HAEA): An advocacy organization for individuals with hereditary angioedema
  • AAAAI: American Academy of Allergy, Asthma & Immunology resource center on hereditary angioedema

Remember, genetic testing can provide valuable information about the genetic causes of hereditary angioedema, but it should always be done in consultation with a healthcare professional or genetic counselor.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is an advocacy and patient support organization that provides information on genetic and rare diseases, including hereditary angioedema (HAE). HAE is a rare condition characterized by recurrent episodes of swelling in various parts of the body.

HAE is caused by mutations in certain genes that affect the production or function of proteins involved in the regulation of the immune system. These mutations can lead to increased production or activity of a protein called bradykinin, which causes blood vessels to become leaky and results in swelling.

The symptoms of HAE can vary widely between individuals and can include swelling of the face, hands, and feet, as well as abdominal pain and difficulty breathing. The frequency and severity of HAE episodes can also vary, with some individuals experiencing frequent episodes and others experiencing them less frequently.

Diagnosis of HAE typically involves a combination of clinical evaluation, laboratory testing, and genetic testing. Laboratory testing can include measuring levels of certain proteins and enzymes in the blood, such as C1 esterase inhibitor and C4. Genetic testing can help identify mutations in the genes associated with HAE.

There are currently three types of HAE that are based on the underlying genetic cause. Type I HAE is caused by mutations in the SERPING1 gene, which provides instructions for making C1 esterase inhibitor. Type II HAE is caused by mutations in the F12 gene, which provides instructions for making factor XII. Type III HAE is less understood and may have different genetic causes.

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Treatment options for HAE include medications that help prevent or reduce the severity of HAE episodes, such as C1 esterase inhibitors and bradykinin receptor antagonists. Management of HAE may also involve avoiding triggers that can lead to episodes, such as certain medications or stress.

The Genetic and Rare Diseases Information Center provides a wide range of resources and information on HAE and other rare diseases. These resources include articles, patient information, scientific studies, and links to other genetic and rare disease organizations. GARD also provides information on research studies and clinical trials related to HAE.

Overall, GARD is a valuable resource for individuals and families affected by HAE, providing information about the causes, symptoms, diagnosis, and treatment options for this rare condition.

Patient Support and Advocacy Resources

If you or someone you know suffers from Hereditary Angioedema (HAE), there are numerous patient support and advocacy resources available to help you navigate this condition. These resources provide information, guidance, and support tailored specifically for individuals and families affected by HAE.

Here are some valuable resources you can turn to:

  • HAE Help Center: The HAE Help Center is a comprehensive resource that offers information about HAE, its causes, symptoms, and treatment options. They provide support services such as genetic testing, assistance with insurance, and guidance on how to manage the condition on a daily basis.
  • Hereditary Angioedema Association (HAEA): The HAEA is a patient advocacy organization that is dedicated to supporting individuals with HAE. They provide a wealth of education and resources, including research articles, patient stories, and information about clinical trials. The HAEA also offers support groups and events where patients can connect with others who share their experiences.
  • PubMed: PubMed is a valuable resource for finding scientific articles and research studies related to HAE. It is an online database that provides access to a vast collection of medical literature. By searching for keywords such as “Hereditary Angioedema” or “HAE,” you can find the latest studies and scientific advancements in the field.
  • OMIM: OMIM (Online Mendelian Inheritance in Man) is a catalog of human genes and genetic disorders. It provides detailed information about various inherited diseases, including HAE. By searching for HAE-related genes or the condition itself, you can learn more about the genetic basis of HAE and the inheritance patterns associated with the different types of HAE.
  • ClinicalTrials.gov: ClinicalTrials.gov is a database of clinical studies conducted around the world. It lists ongoing and completed trials related to various diseases, including HAE. By searching for HAE on ClinicalTrials.gov, you can find information about ongoing research studies and potential opportunities to participate in clinical trials.

These resources can provide valuable information and support to individuals and families affected by HAE. They can help you learn more about the condition, find treatment options, connect with others who share similar experiences, and stay updated on the latest research and advancements in the field. Take advantage of these resources to empower yourself and effectively manage your condition.

Research Studies from ClinicalTrialsgov

ClinicalTrials.gov is a valuable resource for finding information about research studies on hereditary angioedema and other diseases. Many studies are focused on understanding the causes and inheritance patterns of this rare condition, as well as exploring potential treatments and interventions.

Through ClinicalTrials.gov, patients and families affected by hereditary angioedema can learn about ongoing studies and potentially participate in them. These studies can provide important insights into the condition and help improve patient care and outcomes.

Some of the research studies listed on ClinicalTrials.gov are investigating the genetic basis of hereditary angioedema. These studies aim to identify specific genes and genetic variants that may be associated with the condition. By understanding the genetic causes of hereditary angioedema, researchers can develop targeted therapies and genetic testing options for affected individuals and their families.

Others studies focus on the immunological and neurobiological aspects of hereditary angioedema. These studies seek to uncover the underlying mechanisms that lead to angioneurotic edema and explore potential therapeutic strategies targeting the immune system or neurological pathways.

ClinicalTrials.gov also provides access to published articles and references related to hereditary angioedema. By browsing through the extensive catalog of scientific articles, researchers and healthcare professionals can stay updated on the latest advancements in the field and gather additional information about the rare condition.

In addition to research studies and articles, ClinicalTrials.gov offers resources for patient advocacy, support groups, and information on rare disease centers. These resources can be valuable for patients, families, and healthcare providers seeking further information and support.

It is important to note that the frequency of research studies on hereditary angioedema may vary, and not all studies listed on ClinicalTrials.gov may be actively recruiting participants. Interested individuals should carefully read the study descriptions and contact the respective research centers for more information.

Overall, ClinicalTrials.gov serves as a comprehensive platform for researchers, healthcare providers, and patients to access information and resources related to hereditary angioedema and other rare diseases.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a valuable resource for information on genes and diseases. It provides a comprehensive catalog of genetic disorders and associated genes.

The OMIM catalog includes information on hereditary angioedema, a rare condition characterized by recurrent episodes of swelling in various body parts. This condition is caused by mutations in the C1 inhibitor gene (also known as the SERPING1 gene).

The SERPING1 gene provides instructions for making a protein called C1 inhibitor. This protein helps regulate the complement system, which is part of the body’s immune response. Mutations in the SERPING1 gene can result in a deficiency or dysfunction of the C1 inhibitor protein, leading to uncontrolled activation of the complement system and the symptoms of hereditary angioedema.

The OMIM catalog provides detailed information on the genetic causes, clinical features, inheritance patterns, and associated symptoms of hereditary angioedema. It also includes references to scientific articles, clinical trials, and advocacy organizations for further information and support.

Hereditary angioedema can be inherited in an autosomal dominant or autosomal recessive manner, depending on the specific type. The catalog provides information on different subtypes of hereditary angioedema and their associated genes.

In addition to hereditary angioedema, the OMIM catalog includes information on a wide range of other rare genetic diseases. It serves as a valuable resource for researchers, healthcare professionals, and patients looking for information on the causes, symptoms, and treatment options for these conditions.

For more information, the OMIM catalog can be accessed online at the OMIM website. The website also provides links to other resources, such as PubMed, clinicaltrials.gov, and genetic testing centers, for further research and support.

Scientific Articles on PubMed

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Scientific articles on PubMed provide valuable information about hereditary angioedema, a rare genetic condition. These articles are generated from clinical cases and research studies, providing insights into the causes, symptoms, and inheritance patterns of this condition.

Immunology and Hageman esterase are key topics explored in these scientific articles. They shed light on the body’s immune response and the role of the Hageman esterase in hereditary angioedema. PubMed serves as a comprehensive catalog of scientific articles, allowing researchers and healthcare professionals to access reliable information.

In addition to PubMed, other resources such as OMIM, therapy advocacy organizations, and ClinicalTrials.gov are also mentioned in these articles. They provide further support and information about rare genetic diseases like hereditary angioedema.

Through frequency testing and patient cases, researchers have learned more about the causes and types of hereditary angioedema. These articles highlight the various genetic abnormalities associated with the condition and the inheritance patterns observed in affected families.

Overall, scientific articles on PubMed offer a wealth of information for researchers, medical professionals, and individuals looking to learn more about hereditary angioedema and other rare diseases. They contribute to our understanding of the condition’s genetic basis, clinical symptoms, and potential treatment options.

References

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