Hereditary hemorrhagic telangiectasia (HHT), also known as Osler-Weber-Rendu syndrome, is a rare genetic condition characterized by abnormal blood vessels, called telangiectasias, that form in various organs throughout the body. The condition is associated with an increased risk of bleeding and can lead to serious medical problems.

HHT is caused by mutations in certain genes that are involved in the development and maintenance of blood vessels. The most common genes associated with HHT are ENG, ACVRL1, and SMAD4. These genes play a role in regulating the balance between blood vessel growth and regression. When these genes are mutated, blood vessels can become fragile and prone to rupture.

HHT can affect multiple organs, including the lungs, liver, brain, and intestines. The frequency and severity of symptoms can vary widely among individuals with HHT. Some people may have only mild telangiectasias, while others may experience more severe bleeding and organ damage.

Diagnosis of HHT can be challenging, as the symptoms can be subtle and easily overlooked. Genetic testing can be used to confirm a diagnosis in individuals suspected of having HHT. Testing for the presence of mutations in the ENG, ACVRL1, and SMAD4 genes is available through specialized testing centers.

There is currently no cure for HHT, but treatment options are available to manage symptoms and prevent complications. This may include medication to reduce bleeding, embolization to close off abnormal blood vessels, or surgery in cases of severe organ involvement. Regular monitoring and medical management are important for individuals with HHT to detect and address any potential problems.

Resources for individuals and families affected by HHT include patient advocacy organizations, scientific research articles, and clinical trial registries. These resources provide information and support for those living with HHT and their healthcare providers. Additional information about HHT can be found on websites like Orphanet, OMIM, and PubMed, as well as clinicaltrials.gov, which lists ongoing research studies and clinical trials related to HHT.

Preventable medical errors kill about 22,000 patients a year, according to research from the Yale School of Medicine. That’s much less than a previously reported number of 250,000 deaths a year where medical error is to blame.

Frequency

The frequency of hereditary hemorrhagic telangiectasia (HHT) is estimated to be around 1 in 5,000 to 8,000 individuals worldwide. It is considered a rare genetic condition. HHT affects both males and females and can occur in people of any race or ethnicity.

One of the hallmark symptoms of HHT is recurrent nosebleeds, which can be frequent and severe. These nosebleeds often start in childhood and may continue throughout life. In addition to nosebleeds, HHT can also cause telangiectasia, which are small, dilated blood vessels that can appear on the skin or mucous membranes.

To diagnose HHT, genetic testing can be performed to identify mutations in the genes associated with the condition. There are several genes that have been associated with HHT, including ENG, ACVRL1, and SMAD4. Testing for these genes can help confirm a diagnosis and determine the inheritance pattern of the condition.

It is important for individuals with HHT to receive regular medical care to monitor for complications and manage symptoms. HHT can involve other organs besides the nose and skin, including the lungs, liver, and brain. Regular screening and monitoring can help detect and manage these potential complications.

Research studies, clinical trials, and scientific articles are constantly being published to learn more about HHT and the causes of the condition. The advocacy organization HHT Foundation International provides resources and support for patients and their families. Additional information can be found on websites such as OMIM, PubMed, and ClinicalTrials.gov.

Overall, the frequency of hereditary hemorrhagic telangiectasia is relatively low, but it can cause significant health problems for those affected. Genetic testing and ongoing medical care are important for individuals with HHT to manage symptoms and prevent complications.

Causes

Hereditary hemorrhagic telangiectasia (HHT) is a rare genetic condition that is associated with high frequency of nosebleeds and the formation of abnormal blood vessels. The condition is also known as Osler-Weber-Rendu syndrome and hereditary haemorrhagic telangiectasia (HHT).

The underlying cause of HHT is a mutation in one of several genes involved in the development of blood vessels. These mutated genes lead to the formation of abnormal blood vessels, called telangiectasias, which are fragile and prone to bleeding. The most common genes associated with HHT are ENG (encoding endoglin protein) and ACVRL1 (encoding activin receptor-like kinase 1).

The inheritance of HHT follows an autosomal dominant pattern, meaning that a person only needs to inherit one copy of the mutated gene from one parent to develop the condition. However, the severity of symptoms can vary among individuals even within the same family, suggesting that additional genetic and environmental factors may play a role in the manifestation of the disease.

In addition to the genetic mutations associated with HHT, other genetic variations have been found to be associated with an increased risk of developing the condition. These variations are involved in the regulation of the transforming growth factor-beta (TGF-β) pathway, which plays a critical role in blood vessel development and maintenance.

Research studies and clinical trials are ongoing to further understand the genetic causes and underlying mechanisms of HHT. The identification of these genes can provide valuable information for diagnostic testing and potentially lead to targeted therapies for HHT.

For more information about HHT causes, you can refer to scientific resources such as PubMed, OMIM, and clinicaltrialsgov. These resources provide a catalog of research studies, clinical trials, and other information related to HHT and other rare genetic diseases.

Learn more about the genes associated with Hereditary hemorrhagic telangiectasia

Hereditary hemorrhagic telangiectasia (HHT), also known as Osler–Weber–Rendu syndrome, is a rare genetic disorder that affects blood vessels. The condition is characterized by abnormal blood vessel formation, which can lead to nosebleeds, skin discoloration, and other complications.

Research has shown that HHT is caused by mutations in several genes. These genes play a role in the development and maintenance of blood vessels. Understanding the specific genes associated with HHT can provide important insights into the causes and mechanisms of the condition.

One of the main genes involved in HHT is the ENG gene, which provides instructions for making a protein called endoglin. Mutations in the ENG gene are responsible for HHT type 1. Another gene related to HHT is the ACVRL1 gene, which encodes a protein called activin receptor-like kinase 1. Mutations in the ACVRL1 gene cause HHT type 2.

It is important for patients with HHT to have genetic testing to determine which gene is involved in their condition. Genetic testing can help confirm the diagnosis, provide information about the inheritance pattern, and offer support and resources for patients and their families.

In addition to the ENG and ACVRL1 genes, there are other genes that have been associated with HHT. These genes include SMAD4, GDF2, and BMP9. Studies have shown that mutations in these genes can also lead to the development of HHT.

For more information about the genes associated with HHT, you can visit the National Center for Biotechnology Information (NCBI) website. The NCBI provides a wealth of scientific resources, including articles, research studies, and genetic information on various diseases. The Online Mendelian Inheritance in Man (OMIM) catalog is another valuable resource for learning about the genetic causes of HHT.

In summary, hereditary hemorrhagic telangiectasia is a rare condition caused by mutations in several genes. Understanding the genetic involvement in HHT can help researchers develop better treatments and improve patient care. Genetic testing is an important tool for diagnosing HHT and providing support for patients and their families.

Inheritance

Hereditary hemorrhagic telangiectasia (HHT) is a genetic condition that is inherited in an autosomal dominant manner. This means that a person with HHT has a 50% chance of passing the condition on to each of their children.

HHT is associated with a variety of symptoms, including nosebleeds, telangiectasias (tiny blood vessels that become enlarged and cause red spots on the skin or mucous membranes), and arteriovenous malformations (AVMs) in various organs. The underlying cause of HHT is mutations in several genes, including ENG, ACVRL1, and SMAD4.

The frequency of these mutations varies depending on the population and geographic location, but on average, the ENG gene mutation is the most common cause of HHT, accounting for approximately 85% of cases. The ACVRL1 gene mutation is the second most common cause, accounting for about 10-15% of cases, and the SMAD4 gene mutation is the least common cause, accounting for less than 5% of cases.

Genetic testing can be done to confirm a diagnosis of HHT and identify the specific gene mutation present in an individual. This information can help with patient management and provide valuable information about recurrence risks for family members. Additionally, genetic testing can also be used for prenatal testing and preimplantation genetic diagnosis.

There are several resources available for individuals and families affected by HHT. The Hereditary Hemorrhagic Telangiectasia Foundation International (HHT Foundation) provides support, advocacy, and additional information about HHT. They also have a list of HHT Centers of Excellence, where patients can receive specialized care for this rare condition.

Further research and clinical trials are being conducted to better understand the genetic and molecular basis of HHT, as well as to develop new treatments for the associated symptoms and complications. Scientific articles and studies can be found on PubMed, OMIM, and clinicaltrialsgov websites.

Overall, HHT is a rare genetic condition with a wide range of clinical problems and organ involvement. Genetic testing and the availability of resources and support networks can help individuals and families better manage this condition and improve their quality of life.

References:

• Hereditary hemorrhagic telangiectasia. In: Genetic Testing Registry [database online]. Bethesda, MD: National Library of Medicine (US), National Center for Biotechnology Information; 2015 [cited 2022 Jun 20]. Available from: https://pubmed.ncbi.nlm.nih.gov/26064164/
• Hereditary Hemorrhagic Telangiectasia. In: GeneReviews® [Internet]. Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Mirzaa G, et al., editors. Seattle (WA): University of Washington, Seattle; 1993-2022. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1351/
• Hereditary Hemorrhagic Telangiectasia. In: Genetics Home Reference [Internet]. Bethesda (MD): National Library of Medicine (US); 2010 [cited 2022 Jun 20]. Available from: https://ghr.nlm.nih.gov/condition/hereditary-hemorrhagic-telangiectasia
• Hereditary Hemorrhagic Telangiectasia Foundation International. Available from: https://hht.org/

Other Names for This Condition

Hereditary hemorrhagic telangiectasia (HHT) is a rare genetic condition that is also known by other names. These names include:

• Osler-Weber-Rendu syndrome
• Osler disease
• HHT
• HHT syndrome
• Telangiectasia, hereditary hemorrhagic
• Hereditary hemorrhagic telangiectasia syndrome
• Osler-Weber-Rendu disease
• Haemorrhagic telangiectasia, hereditary

These names are used interchangeably to refer to the same condition.

HHT is characterized by the presence of abnormal blood vessels, called telangiectasia, that form in various organs and tissues of the body. The condition primarily affects the nose, skin, and the small blood vessels in the lungs, liver, and brain.

Individuals with HHT may experience a range of symptoms and problems associated with the involvement of these abnormal blood vessels. The most common symptom is nosebleeds (epistaxis), which can be frequent and severe. Some individuals may also develop dilated blood vessels on the skin (telangiectasia) and have a higher risk of internal bleeding.

Research studies have identified several genes that are associated with HHT, including the ENG gene, the ACVRL1 gene, and the SMAD4 gene. Genetic testing can be done to confirm the suspected diagnosis of HHT and to identify the specific gene mutation in an affected individual.

As HHT is a rare condition, there is limited information and resources available about it. However, there are advocacy and support groups that can provide additional information and support to individuals and families affected by HHT.

For more information about Hereditary Hemorrhagic Telangiectasia, you can refer to the following resources:

• PubMed – A database of scientific articles and research studies
• OMIM – Online Mendelian Inheritance in Man, a catalog of human genes and genetic disorders
• ClinicalTrials.gov – A registry of clinical trials and research studies
• Genetic testing centers and laboratories
• Patient advocacy and support groups

Learning more about the causes and inheritance of HHT can help individuals and families understand the condition better and make informed decisions about their healthcare.

Additional Information Resources

There are various resources available to learn more about hereditary hemorrhagic telangiectasia (HHT). They provide information about the condition, its causes, associated gene involvement, and more. These resources can support patient care, research, and advocacy efforts.

• HHT Foundation International – This organization provides comprehensive information about HHT, including articles, patient stories, videos, and a resource catalog. They also offer support groups and webinars for individuals and families affected by HHT. Visit their website at hht.org.
• ClinicalTrials.gov – This online registry provides information on ongoing clinical trials and research studies related to HHT. It allows individuals to search for trials and research studies that they may be eligible to participate in. Visit their website at clinicaltrials.gov.
• HHT Centers of Excellence – These specialized medical centers provide comprehensive care for individuals with HHT. They have multidisciplinary teams of healthcare professionals who specialize in managing HHT-related problems, such as recurrent nosebleeds, telangiectasia, and organ involvement. These centers can provide additional information on diagnosis, treatment, and ongoing research. To find a center near you, visit the HHT Foundation’s website.
• OMIM Database – The Online Mendelian Inheritance in Man (OMIM) is a comprehensive database that provides information on genetic diseases and associated genes. The OMIM entry for HHT (OMIM #187300) includes a summary of the condition, information on its genetic inheritance, and a list of relevant genes. Visit the OMIM website at omim.org.
• PubMed – PubMed is a database of scientific articles and research studies. It contains a wealth of information on HHT, including studies on the genetics, clinical manifestations, and management of the condition. Visit the PubMed website at pubmed.ncbi.nlm.nih.gov.

By utilizing these resources, individuals can learn more about HHT, access support, and stay updated on the latest research and clinical studies.

Genetic Testing Information

Genetic testing plays a crucial role in the diagnosis and management of Hereditary Hemorrhagic Telangiectasia (HHT). It provides valuable information that supports the understanding of the condition’s genetic basis and guides appropriate patient care.

HHT is caused by mutations in several genes, including the ENG, ACVRL1, and SMAD4 genes. Genetic testing can identify these mutations and determine the likelihood of an individual inheriting the condition. It is particularly useful for patients with a family history of HHT or those who present with characteristic symptoms, such as frequent nosebleeds and high frequency of telangiectasia – small dilated blood vessels that can appear on the skin and mucous membranes.

Several resources provide comprehensive genetic testing information for HHT. The OMIM (Online Mendelian Inheritance in Man) database catalogs detailed information about the genes associated with HHT, including their names, involved proteins, and references to scientific articles. PubMed is another valuable resource that provides access to numerous research papers, reviews, and studies related to HHT and its genetic causes.

In addition to these resources, patients and healthcare providers can find more information about genetic testing for HHT through advocacy and patient support organizations. These organizations often maintain up-to-date information, educational materials, and references to clinical trials related to HHT and its genetics. ClinicalTrials.gov is a useful platform to learn more about ongoing clinical trials investigating HHT and its genetic components.

Genetic testing for HHT is rare and highly specialized. It is typically performed by specialized genetic centers equipped with the necessary expertise and resources. Genetic counselors and medical geneticists play a key role in the interpretation of genetic test results and the provision of appropriate counseling and advice based on an individual’s genetic profile.

Overall, genetic testing provides critical information for the diagnosis, management, and potential treatment of HHT. It helps identify the genetic cause of the disease, offers insight into inheritance patterns, and can guide personalized care. For those affected by HHT, genetic testing offers hope for improved understanding and potential targeted therapies.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a valuable resource for individuals and families affected by hereditary hemorrhagic telangiectasia (HHT) and other related genetic and rare diseases. GARD provides information and support to help individuals understand the causes, frequency, inheritance patterns, and associated problems of these conditions.

GARD has a comprehensive catalog of information on the causes, symptoms, diagnosis, and treatment of HHT and other rare diseases. It offers resources on genetic testing, research studies, clinical trials, and advocacy and support groups for patients and families.

HHT is a hereditary genetic condition that can cause abnormal blood vessels to develop in various parts of the body, including the nose, lungs, liver, and brain. These abnormal blood vessels, called telangiectasias, can result in symptoms such as nosebleeds, shortness of breath, and other complications depending on the organs involved. GARD provides up-to-date information on the condition and its symptoms.

Research studies and scientific articles on HHT can be found on PubMed, a public database of scientific publications. These articles provide additional information on the genetics of HHT, the involvement of specific genes, and the inheritance patterns of the condition. GARD also provides links to relevant articles on PubMed for those interested in learning more about the research on this rare genetic syndrome.

Genetic testing is available for HHT to identify the specific genes that may be causing the condition. GARD provides information on the genes associated with HHT and the testing options available for individuals and families. It also offers resources for finding clinical trials and studies that are investigating new treatments or therapies for HHT.

In addition to scientific information, GARD also provides resources on support and advocacy groups for HHT patients and their families. These groups can offer valuable emotional support, as well as information on managing symptoms, finding healthcare providers, and learning about the latest developments in research and treatment. GARD helps individuals locate these organizations and connect with them for support and guidance.

For more information on HHT and other related genetic and rare diseases, GARD is a valuable resource that individuals and families can turn to for reliable and up-to-date information. It offers a comprehensive catalog of resources, including information on symptoms, causes, inheritance, genetic testing, research studies, support groups, and more.

Patient Support and Advocacy Resources

• Hereditary Hemorrhagic Telangiectasia Foundation International (HHT Foundation International): This organization provides support and resources for individuals affected by hereditary hemorrhagic telangiectasia (HHT). They offer information about the condition, as well as resources for patients, families, and healthcare providers. The HHT Foundation International also advocates for HHT research and promotes awareness of the condition.

• PubMed: PubMed is a valuable resource for finding research articles and clinical studies related to hereditary hemorrhagic telangiectasia. It provides access to a wide range of medical literature and can be used to learn more about the genetic causes, clinical presentation, and treatment options for HHT.

• Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive catalog of human genes and genetic disorders. It provides detailed information on the inheritance patterns and genetic mutations associated with HHT. OMIM can be useful for understanding the underlying genetic basis of the condition and for identifying genes that may be involved.

• ClinicalTrials.gov: ClinicalTrials.gov is a database of clinical trials conducted around the world. It lists ongoing and completed studies related to HHT, including those investigating new treatment options or diagnostic testing methods. Patients may find this resource valuable for learning about potential opportunities to participate in clinical trials.

• HHT Centers of Excellence: HHT Centers of Excellence are specialized medical centers that focus on the diagnosis and management of HHT. These centers typically have multidisciplinary teams of healthcare providers with expertise in HHT. They can provide comprehensive care and support for patients with HHT, including genetic testing, treatment options, and management of HHT-related complications.

• Other Support Groups and Resources: There are also other patient support groups and resources available for individuals with hereditary hemorrhagic telangiectasia. These include online forums and social media groups where patients and their families can connect with others who have HHT, share experiences, and offer support. Additionally, there may be local or regional support groups affiliated with hospitals or healthcare organizations that can provide additional resources and assistance.

By utilizing these patient support and advocacy resources, individuals with hereditary hemorrhagic telangiectasia can learn more about the condition, access support from others facing similar challenges, and stay informed about the latest research and treatment options. It is important for patients and their families to explore these resources to ensure they have the information and support they need to effectively manage this rare genetic condition.

Research Studies from ClinicalTrialsgov

Hereditary hemorrhagic telangiectasia (HHT) is a rare genetic disorder that affects the blood vessels, specifically the veins. It is also known as Osler-Weber-Rendu syndrome. HHT is inherited in an autosomal dominant pattern, which means that a person only needs to inherit one copy of the defective gene from either parent to develop the condition.

Research studies from ClinicalTrialsgov provide valuable information about the genes, causes, and inheritance of HHT. These studies aim to understand more about the genetic basis of the condition and provide better diagnosis and treatment options for patients.

One of the key genes associated with HHT is the ENG gene, which is responsible for encoding a protein involved in blood vessel formation. Mutations in the ENG gene cause blood vessels to develop abnormally, leading to the characteristic telangiectasia (abnormal clusters of small blood vessels) seen in HHT patients.

ClinicalTrialsgov lists several research studies focused on HHT. These studies involve genetic testing, looking for additional genes that may be involved in the condition, and investigating the frequency of specific gene mutations in HHT patients.

One study, conducted by the HHT Foundation International Patient and Research Support Center, aims to increase knowledge about HHT by collecting information on patients’ symptoms, genetics, and other relevant factors. This study will help researchers understand the impact of HHT on patients and develop better strategies for managing the condition.

Another study listed on ClinicalTrialsgov is investigating the involvement of the ACVRL1 gene in HHT. Mutations in the ACVRL1 gene are known to cause a more severe form of HHT, with a higher frequency of nosebleeds and other related problems.

Support and advocacy centers, such as the HHT Foundation International Patient and Research Support Center, provide resources and information for patients and healthcare professionals about HHT. These centers offer genetic counseling and testing services, as well as education and support for individuals and families affected by HHT.

In conclusion, HHT is a rare genetic disorder that causes abnormalities in blood vessels. Research studies from ClinicalTrialsgov provide valuable information about the genes, causes, and inheritance of HHT. They not only increase scientific understanding of the condition but also offer support and resources for patients and their families.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM provides a comprehensive overview of the genetic involvement in various diseases, including Hereditary Hemorrhagic Telangiectasia. OMIM, or Online Mendelian Inheritance in Man, is a comprehensive database that catalogues genetic disorders and their associated genes.

Hereditary Hemorrhagic Telangiectasia (HHT) is a rare genetic condition that causes abnormal blood vessel formation. As a result, individuals with HHT may experience frequent nosebleeds, as well as other complications such as gastrointestinal bleeding and arteriovenous malformations.

In terms of genetic inheritance, HHT can be caused by mutations in several genes including ENG, ACVRL1, and SMAD4. These genes are involved in the formation and maintenance of blood vessels. Studies have shown that the frequency of these gene mutations varies among different populations.

Patient advocacy groups and research organizations such as the HHT Foundation International and the HHT Center of Excellence provide additional information and support for individuals with HHT and their families. These resources can help individuals learn more about the condition, find support, and connect with research studies and clinical trials that are investigating potential treatments.

Genetic testing is available for individuals suspected of having HHT. By identifying the specific gene mutation causing the condition, genetic testing can provide a definitive diagnosis and help guide management and treatment options.

For more information about HHT and related research studies, you can explore scientific articles on PubMed and clinical trials listed on ClinicalTrials.gov. These resources offer up-to-date information on the latest research and clinical trials aimed at understanding the causes of HHT, developing new treatments, and improving patient outcomes.

References:

1. McDonald, J., et al. (2011). Hereditary hemorrhagic telangiectasia: genetics and molecular diagnostics in a new era. Front. Genet., 2, 1-16.
2. HHT Foundation International. Retrieved from https://www.hht.org/
3. HHT Center of Excellence. Retrieved from https://hht.rarediseases.info.nih.gov/

Genes Associated with Hereditary Hemorrhagic Telangiectasia

Gene	Associated Protein
ENG	Endoglin
ACVRL1	Activin A Receptor Type II-Like 1
SMAD4	Mothers Against Decapentaplegic Homolog 4

This information is intended as a resource to support further research and provide a basic understanding of Hereditary Hemorrhagic Telangiectasia. It is important to consult with healthcare professionals and genetic counselors for personalized advice and guidance regarding diagnosis, management, and treatment options for this condition.

Scientific Articles on PubMed

Center for HHT (Hereditary Hemorrhagic Telangiectasia) is a research center dedicated to studying the condition, its associated diseases, and genetic involvement. HHT, also known as Osler-Weber-Rendu syndrome, is a rare genetic disorder characterized by the presence of abnormal blood vessels, leading to recurrent nosebleeds and other related problems.

High frequency of nosebleeds is a hallmark symptom of HHT, but the condition can also cause involvement of other organs. McDonald’s criteria are used to diagnose HHT and have been widely accepted in the medical community. HHT is inherited in an autosomal dominant manner, which means that a person can inherit the condition from only one parent who has the disease-causing gene.

There are currently several scientific articles available on PubMed about hereditary hemorrhagic telangiectasia. These articles provide valuable information about the causes, inheritance patterns, and clinical manifestations of HHT. Researchers have identified several genes that play a role in HHT, including two genes called ENG and ACVRL1. These genes are involved in the formation and maintenance of blood vessels.

PubMed is a widely used online catalog of scientific articles and has a vast collection of research papers related to HHT. It is a valuable resource for both healthcare professionals and patients looking to learn more about this rare condition. In addition to PubMed, there are other resources available, such as the Online Mendelian Inheritance in Man (OMIM) database, which provides comprehensive information about genetic disorders.

Genetic testing is available for individuals suspected of having HHT. This testing can help confirm the diagnosis and identify the specific gene mutation responsible for the condition. Genetic testing is recommended for individuals with a family history of HHT or those who exhibit symptoms suggestive of the condition.

For patients and their families, advocacy and support groups can provide additional information and resources. These organizations are dedicated to raising awareness about HHT and providing support to individuals affected by the condition.

References

Resource	Description
PubMed	A catalog of scientific articles
OMIM	An online database of genetic disorders
ClinicalTrials.gov	A registry of clinical trials

Additional information about hereditary hemorrhagic telangiectasia can be found in scientific articles on PubMed, which cover various aspects of the condition, from its genetic basis to diagnostic testing and management strategies.

Learn more about HHT and its associated complications, and stay informed about the latest research and treatment options through scientific articles available on PubMed.

References

1. McDonald J, et al. Hereditary hemorrhagic telangiectasia. GeneReviews®. 2000. Available at: https://www.ncbi.nlm.nih.gov/books/NBK1351/.

2. OMIM – Online Mendelian Inheritance in Man. Hereditary Hemorrhagic Telangiectasia. Available at: https://omim.org/entry/188850.

3. Moosbrugger-Martinz V, et al. Genetic Testing in Hereditary Hemorrhagic Telangiectasia: Five Years of Experience in a Center of Expertise. Genet Test Mol Biomarkers. 2021;25(3):198-206.

4. Kjeldsen AD, et al. Genetic and clinical pathways in patients with hereditary hemorrhagic telangiectasia. Haemorrhagic Telangiectasia – Diagnosis and Management Options. 2015:1-15.

5. Shovlin CL. Hereditary haemorrhagic telangiectasia: pathophysiology, diagnosis and treatment. Blood Rev. 2010;24(6):203-219.

6. PUBMED. Hereditary Hemorrhagic Telangiectasia. Available at: https://pubmed.ncbi.nlm.nih.gov/?term=Hereditary+Hemorrhagic+Telangiectasia.

7. ClinicalTrials.gov. Hereditary Hemorrhagic Telangiectasia. 2021. Available at: https://clinicaltrials.gov/ct2/results?term=Hereditary+Hemorrhagic+Telangiectasia&Search=Apply&recrs=b&recrs=a&recrs=d&recrs=e.

8. HHT Foundation International. Research and Resources. Available at: https://www.hht.org/research-resource.