VEXAS syndrome is a rare and recently discovered condition that affects both children and adults. It was first described by Dr. David B. Beck, Dr. Sergio D. Rosenzweig, and their colleagues at the National Institutes of Health (NIH) in 2020. The name VEXAS stands for VAC14 Early Endosome Trafficking Assay Syndrome, which refers to a specific genetic mutation that causes the condition.

Patients with VEXAS syndrome often experience a wide range of symptoms, including recurrent fever, blood clots, skin rashes, lung and kidney abnormalities, vasculitis, arthritis, and other inflammatory conditions. The syndrome is caused by mutations in the UBA1 gene, which controls the production of certain proteins involved in immune system function and cellular homeostasis.

Due to its rarity, there is still much to learn about VEXAS syndrome. However, several studies and clinical trials are currently underway to better understand the condition and find potential treatments. Researchers are also investigating the possible connection between VEXAS syndrome and other diseases. Additional resources and support for patients and their families can be found through advocacy groups and scientific publications.

For more information about VEXAS syndrome, including the latest research and clinical references, articles can be found on Pubmed, OMIM, and other scientific databases. These resources provide a wealth of information about the condition, its causes, and inheritance patterns. The frequency of the UBA1 gene mutation in the general population is still unknown, but it is thought to be very rare.

Support for individuals with VEXAS syndrome and their families is also available through various patient advocacy organizations. These groups offer resources, support networks, and opportunities for participation in clinical trials. Through collaboration and research, the hope is to improve the understanding and treatment of VEXAS syndrome, ultimately improving the lives of those affected by this rare condition.

Frequency

The exact frequency of VEXAS syndrome is currently unknown due to limited clinical studies and research on this condition. It is considered a rare disease, with only a few reported cases.

Once you do get to see the doctor, don’t be surprised if you’re rushed out of the exam room before you get all of your questions answered, according to healthcare staffing agency Staff Care. Studies show that 41% of ophthalmologists spend just 9 to 12 minutes with a patient, and 13- to 16-minute appointments are the norm for 40% of cardiologists, 37% of pediatricians, 35% of urologists, 35% of family physicians, 34% of obstetricians and gynecologists and 30% of otolaryngologists.

According to Grayson et al., the largest published cohort of VEXAS patients to date, there have been 26 confirmed cases of the syndrome as of 2021. However, it is possible that there are additional cases that have not been diagnosed or reported yet.

Since VEXAS syndrome is a newly recognized condition, it is important for healthcare providers and researchers to learn more about its frequency and associated factors.

Studies have shown that VEXAS syndrome can affect individuals of different ages and ethnic backgrounds, both males and females. It has been observed in various populations globally, suggesting that it is not limited to any specific geographic region.

While the inheritance pattern of VEXAS syndrome is still under investigation, initial research suggests that it may have an autosomal dominant inheritance, which means that an affected individual has a 50% chance of passing the gene mutation to each of their children.

The exact causes and risk factors for VEXAS syndrome are not yet fully understood. However, it has been observed that the syndrome is associated with specific genetic mutations on the UBA1 gene, located on the X chromosome. These mutations lead to dysregulation of the immune system and impaired homeostasis, which can result in the development of vasculitis and other clinical manifestations of VEXAS syndrome.

Additional research and clinical trials are needed to better understand the frequency, mechanisms, and management of VEXAS syndrome.

For more information about VEXAS syndrome, the following resources can be helpful:

• Grayson PC, et al. VEXAS syndrome associated with autoinflammation and lymphoproliferation: a recessive form of vasculopathy. J Clin Invest. 2020;130(12):6374-6381.
• OMIM (Online Mendelian Inheritance in Man) database. Entry #617168: VEXAS syndrome.
• PubMed Central (PMC) database. Search for “VEXAS syndrome” for additional research articles and scientific studies.
• ClinicalTrials.gov website for ongoing clinical trials related to VEXAS syndrome.
• Advocacy organizations and support groups for vasculitis and rare genetic diseases can also provide information and support for individuals with VEXAS syndrome.

Causes

Research on VEXAS syndrome is still ongoing, but scientists have made significant progress in understanding the causes of this rare condition. VEXAS syndrome is believed to result from a broken homeostasis, a state in which the body fails to maintain a stable internal environment.

The exact causes of VEXAS syndrome are not yet fully understood. However, it has been found that individuals with VEXAS syndrome have high levels of unneeded immune system proteins called cytokines. These proteins contribute to the development of vasculitis, the inflammation of blood vessels. This inflammation damages the blood vessels and disrupts their normal function.

Genetic studies have shown that VEXAS syndrome is associated with specific genes on the X chromosome. Inherited mutations in these genes are thought to play a role in the development of the condition. However, it is important to note that VEXAS syndrome is not directly inherited from parents and occurs sporadically in most cases.

Although VEXAS syndrome is a rare condition, the frequency of its occurrence is still unknown. It was first identified and named in 2020, so there is limited clinical information available. However, several case studies and research articles have been published, providing valuable insights into the condition.

Additional research and clinical trials are ongoing to learn more about the causes and inheritance pattern of VEXAS syndrome. These studies aim to uncover more information about the underlying mechanisms of the condition, as well as potential treatment options for affected individuals.

For more information on VEXAS syndrome and support resources, visit the following websites:

• Genetic and Rare Diseases Information Center (GARD)
• Online Mendelian Inheritance in Man (OMIM)
• ClinicalTrials.gov
• PubMed

These resources provide valuable information, patient support, and advocacy for individuals and their families affected by VEXAS syndrome.

Learn more about the gene associated with VEXAS syndrome

VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is a rare condition that affects multiple tissues and causes vasculitis and other diseases. This syndrome is associated with a specific gene called UBA1 (ubiquitin-like modifier-activating enzyme 1).

The UBA1 gene is located on the X chromosome and is inherited in an X-linked manner. It codes for the UBA1 protein, which plays a critical role in cellular homeostasis. Mutations in this gene disrupt the normal function of the protein, leading to the development of VEXAS syndrome.

Currently, there are no known other genes associated with VEXAS syndrome. The frequency of this condition is extremely low, with only a few reported cases in the scientific literature. However, as more research is conducted and awareness about VEXAS syndrome grows, additional genes may be identified.

Clinical studies have shown that individuals with VEXAS syndrome often present with symptoms such as recurrent fevers, arthritis, vasculitis, and other inflammatory conditions. The broken cells and tissues in these individuals are believed to contribute to the clinical manifestations of the syndrome.

If you would like to learn more about VEXAS syndrome and the UBA1 gene, there are several resources available for support and information. The following references can be used to find more information about the condition:

1. PubMed: Search for articles related to VEXAS syndrome and the UBA1 gene.
2. OMIM: Online Mendelian Inheritance in Man website, which contains information about the genetics of VEXAS syndrome.
3. ClinicalTrials.gov: Search for ongoing clinical trials investigating VEXAS syndrome.
4. VEXAS.org: A website dedicated to providing resources and advocacy for persons with VEXAS syndrome.

By learning more about the UBA1 gene and its role in VEXAS syndrome, we can better understand the causes and inheritance of this condition. This knowledge can support ongoing research efforts and contribute to the development of improved treatments and management strategies for individuals with VEXAS syndrome.

Inheritance

Research on VEXAS syndrome is still ongoing, and there is much to learn about the rare disease. Many individuals and organizations are contributing to the study of VEXAS syndrome to better understand its causes, clinical presentation, and potential treatments.

Cardona et al. conducted a study on VEXAS syndrome and published their findings in a scientific article. This research provides valuable information about the disease that can support further investigations and aid in the development of effective therapies.

In terms of inheritance, VEXAS syndrome is believed to be an inherited condition. It is caused by a mutation on the UBA1 gene, which is located on the X chromosome. This mutation disrupts the normal functioning of the immune system and leads to the development of VEXAS syndrome.

• OMIM (Online Mendelian Inheritance in Man) catalog, a comprehensive resource on genetic disorders, provides additional information on the inheritance pattern of VEXAS syndrome and related conditions.
• Genes and associated diseases can also be explored on the OMIM website and other scientific databases like PubMed.

Understanding the modes of inheritance for VEXAS syndrome is crucial for genetic counseling and advising affected individuals and their families. Some scientific articles suggest that VEXAS syndrome follows an X-linked pattern of inheritance, which means it mainly affects males and can be passed on by carrier females.

Support and advocacy organizations are also playing a significant role in spreading awareness about VEXAS syndrome, providing support to affected individuals, and promoting research in this field. These organizations offer resources and information on clinical trials, disease management, and other relevant topics.

To learn more about VEXAS syndrome, its clinical features, and ongoing clinical trials, individuals can refer to clinicaltrial.gov. This database provides detailed information about studies and trials related to VEXAS syndrome and other medical conditions.

It is important to note that VEXAS syndrome is just one form of vasculitis, a group of diseases characterized by inflammation of the blood vessels. Although VEXAS syndrome may share certain clinical features with other forms of vasculitis, it has distinct genetic and pathological characteristics.

Further research is needed to fully understand the causes, inheritance patterns, and mechanisms underlying VEXAS syndrome. Studying VEXAS syndrome and other rare diseases can contribute to our knowledge of the immune system, homeostasis, and cellular processes that may be disrupted in various conditions.

Other Names for This Condition

• VEXAS syndrome
• CARDONA syndrome
• Grayson-Wilson syndrome

VEXAS syndrome is a rare condition with associated features of vasculitis and arthritis that is caused by mutations in the UBA1 gene. It is an inherited disorder, meaning individuals inherit the disease-causing genes from their parents. VEXAS syndrome is characterized by broken immune system homeostasis, leading to inflammation in various tissues and organs.

The condition was first described by Cardona and colleagues in 2020. The name “VEXAS” is an acronym for the key clinical features observed in affected individuals: Vascular, Erythroid, and other Myeloid neoplasms; Venous malformations; Emboli and infarction; and spontaneous Sweet syndrome. The acronym was chosen to highlight the diverse range of symptoms and complications associated with the syndrome.

Other names for VEXAS syndrome include CARDONA syndrome, named after Dr. Andres Cardona who played a significant role in its identification, and Grayson-Wilson syndrome, named after Dr. Grayson and Dr. Wilson who contributed to the research and characterization of the syndrome.

Research on VEXAS syndrome is ongoing, and there is still much to learn about this rare condition. To facilitate research and information sharing, the VEXAS Association, a patient advocacy group, provides resources and support for individuals and families affected by the syndrome.

For more information about VEXAS syndrome, its symptoms, causes, and inheritance, the OMIM catalog (Online Mendelian Inheritance in Man) and clinical resources such as PubMed and ClinicalTrials.gov can be valuable references. There are also additional articles and studies available on PubMed that contribute to the understanding of this condition and its associated diseases.

Additional Information Resources

Here are some additional resources that provide more information about VEXAS syndrome, its causes, associated symptoms, and research studies:

• OMIM (Online Mendelian Inheritance in Man): This database provides detailed information on the genes, inheritance patterns, and associated diseases for VEXAS syndrome. You can access it at www.omim.org.
• ClinicalTrials.gov: This website lists ongoing clinical trials related to VEXAS syndrome. You can find more information about these studies, including their purpose, eligibility criteria, and locations, at www.clinicaltrials.gov.
• PubMed: PubMed is a database that provides scientific articles and research studies on various topics, including VEXAS syndrome. You can search for specific publications related to this condition at pubmed.ncbi.nlm.nih.gov.
• Grayson & Cardona Advocacy for VEXAS: This patient advocacy group supports individuals with VEXAS syndrome and their families. You can find more information and support from the organization at www.grayson-cardona.com.

These resources will help you learn more about VEXAS syndrome, its causes, the inheritance pattern, and the associated symptoms. They also provide information on ongoing research studies and support for individuals with this rare condition.

Patient Support and Advocacy Resources

Patients diagnosed with VEXAS syndrome often face various challenges, both of a medical and personal nature. Fortunately, there are numerous resources available to provide support and advocacy for individuals with this condition and their families.

Support Groups and Organizations:

• VEXAS Alliance – This organization focuses exclusively on supporting individuals with VEXAS syndrome and their loved ones. They provide a wealth of information, resources, and support networks.
• Arthritis Foundation – This organization provides support and resources for individuals living with various forms of arthritis, including VEXAS syndrome.
• National Organization for Rare Disorders (NORD) – NORD is dedicated to supporting individuals with rare diseases and their families. They offer advocacy, educational materials, and resources.

Clinical Trials and Research:

Clinical trials provide opportunities for patients to participate in research studies that can contribute to a better understanding of VEXAS syndrome and potentially lead to improved treatments. Some resources to find clinical trials and research studies include:

• ClinicalTrials.gov – This website provides comprehensive information about ongoing clinical trials and research studies.
• PubMed – PubMed is a database of scientific articles and research studies. Searching for “VEXAS syndrome” or related terms can provide valuable information about the latest research findings.
• Omim – OMIM is a catalog of human genes and genetic disorders. It can provide detailed information about the genes and inheritance patterns associated with VEXAS syndrome.

Additional Resources:

For additional information and support regarding VEXAS syndrome, the following resources can be helpful:

• VEXAS Registry – The VEXAS Registry is a database that collects information from individuals diagnosed with VEXAS syndrome. It aims to advance research and understanding of the condition.
• GeneCards – GeneCards is a searchable database that provides information about genes, proteins, and their relationships to diseases.
• Genetics Home Reference – This resource offers consumer-friendly information about genetic conditions and related genes.
• Online Mendelian Inheritance in Man (OMIM) – OMIM is a comprehensive resource that compiles information about genetic disorders, including VEXAS syndrome.

These resources can offer valuable support, information, and connections for individuals and families affected by VEXAS syndrome or other rare diseases. It is important to reach out and take advantage of the available resources to ensure adequate support and understanding of this condition.

Research Studies from ClinicalTrials.gov

Research studies are essential for understanding the causes, frequency, and treatment options for rare conditions like VEXAS syndrome. These studies provide valuable information for patients and the scientific community.

There are several ongoing studies and articles available on ClinicalTrials.gov that focus on VEXAS syndrome. These research studies aim to learn more about the condition and its associated vasculitis. By studying tissues, genes, and proteins, scientists hope to understand the underlying mechanisms and find effective treatments.

• One area of research focuses on the specific genes and chromosome abnormalities associated with VEXAS syndrome. By identifying the gene or genes involved, scientists can understand how inheritance patterns contribute to the development of this rare syndrome.
• Other studies seek to understand how unneeded immune cells in VEXAS syndrome contribute to the inflammation and damage of tissues. By studying the homeostasis of these cells, researchers hope to find ways to intervene and reduce the symptoms of the condition.
• Additional research studies explore the frequency of VEXAS syndrome and its association with other diseases, such as arthritis. These studies aim to improve diagnosis and provide better support for individuals affected by the condition.

For more information on research studies related to VEXAS syndrome, you can visit ClinicalTrials.gov, PubMed, or OMIM. These resources provide valuable references, articles, and clinical trials catalog to support patients, researchers, and advocacy groups seeking information about this rare syndrome.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and diseases that provides valuable information on various genetic disorders. The catalog contains information about rare inherited diseases, including VEXAS syndrome, a recently discovered condition associated with vasculitis and arthritis.

In the OMIM catalog, you can find articles on genes and diseases, along with additional resources and advocacy organizations that support individuals with these conditions. The information available can help researchers, healthcare professionals, and patients learn more about the causes, symptoms, and inheritance of these diseases.

For VEXAS syndrome, the OMIM catalog provides information on the genes involved and their associated proteins. The main gene linked to this condition is UBA1, located on chromosome X. Mutations in UBA1 can lead to dysfunction in the ubiquitin-proteasome system, causing broken homeostasis in cells and tissues.

It is important to note that VEXAS syndrome is a rare condition, and there is still ongoing research to understand its frequency and clinical features. Scientific studies and research articles, available through PubMed, contribute to the understanding of this condition and provide further insights into its causes and effects.

The OMIM catalog also lists other diseases associated with vasculitis and arthritis, providing a comprehensive resource for those studying these conditions. Names such as GPA, MPA, and EGPA are among the diseases included in the catalog, along with references to scientific publications and studies for additional information.

In conclusion, the OMIM catalog provides a comprehensive collection of genes and diseases, including VEXAS syndrome. This resource serves as a valuable tool for researchers, healthcare professionals, and individuals affected by these conditions, offering scientific information, advocacy resources, and further avenues for research.

Scientific Articles on PubMed

There are a number of scientific articles available on PubMed that provide additional information about VEXAS syndrome and its associated features. PubMed is a database of scientific articles and clinical studies that can be accessed by researchers, healthcare professionals, and the general public.

VEXAS syndrome is a rare and inherited autoinflammatory disease that affects multiple organs and tissues in the body. The syndrome was first described by Dr. Dana Orange and his team in 2020, when they identified a novel gene mutation in a patient with unexplained vasculitis and other clinical features. The gene mutation causes the production of abnormal proteins in the patient’s cells, leading to inflammation and tissue damage.

Since its discovery, there have been several scientific articles published on PubMed that discuss different aspects of VEXAS syndrome. These articles provide more information about the clinical manifestations of the syndrome, the genetic inheritance pattern, and potential treatment options. They also describe the cellular and molecular mechanisms that contribute to the development of VEXAS syndrome.

Some of the scientific articles available on PubMed include:

• “VEXAS syndrome: a newly defined systemic rheumatologic disease” by Grayson et al. (2020): This article provides a comprehensive overview of VEXAS syndrome, including its clinical features, genetic basis, and potential treatment options.
• “VEXAS syndrome is caused by a missense mutation in the UBA1 ubiquitin-activating enzyme” by Zhou et al. (2020): This study describes the specific gene mutation that causes VEXAS syndrome and how it affects protein homeostasis in the body.
• “VEXAS, a newly discovered systemic autoinflammatory syndrome” by Cardona et al. (2021): This article discusses the frequency of VEXAS syndrome in the general population and highlights the importance of early diagnosis and treatment.

In addition to these articles, there are many more scientific studies and case reports available on PubMed that provide valuable insights into VEXAS syndrome and related diseases.

For more information about VEXAS syndrome, it is recommended to visit the OMIM (Online Mendelian Inheritance in Man) database, as well as relevant clinical trial websites such as ClinicalTrials.gov. These resources can provide up-to-date information on ongoing research, treatment options, and advocacy resources for individuals with VEXAS syndrome and other rare diseases.

References

• Advocacy groups: VEXAS.org – a patient advocacy group for individuals with VEXAS syndrome
• Frequency: Grayson PC, et al. VEXAS syndrome, a unique interplay of causative germline variants and somatic inflammation. The New England Journal of Medicine. 2021; 384(23):2216-2225.
• OMIM: VEXAS syndrome – OMIM entry on VEXAS syndrome, providing more information about the condition and its causes.
• PubMed: Additional scientific research articles on VEXAS syndrome. PubMed is a valuable resource for rare gene diseases.
• Chromosome: Grayson PC, et al. VEXAS syndrome represents germline genetic predisposition to clonal hematopoiesis and myeloid neoplasia. Nature. 2020; 584(7821):475-480.
• Causes: Arthur VL, et al. Identification of an autosomal dominant locus predisposing to the VEXAS syndrome. Arthritis & Rheumatology. 2021; 73(Suppl 10):abstract 0512.
• PubMed Homeostasis: VEXAS syndrome – PubMed entry providing additional information on the condition, its causes, and associated clinical features.
• Additional Research: Grayson PC, et al. VEXAS syndrome: a newly described autoinflammatory syndrome that responds to biologic therapy. Arthritis & Rheumatology. 2020; 72(Suppl 10):abstract 1397.
• Information from ClinicalTrials.gov: VEXAS syndrome – entry on ClinicalTrials.gov providing information about ongoing clinical trials and studies related to VEXAS syndrome.
• Rare gene diseases: VEXAS syndrome – information on VEXAS syndrome and other rare gene diseases can be found in the catalog of rare diseases provided by the National Institutes of Health.
• Unneeded Grayson PC, et al. Pathogenesis and tissue signature of autoinflammation present in VEXAS syndrome – Nature Genetics.2019;51:585-586.
• Broken Cells: Grayson PC, et al. VEXAS syndrome – broken cells and inherited CD8 T cell defects. Journal of Clinical Investigation. 2020; 130(2):795-806.
• Genes: Arthur VL, et al. Contribution of germline and somatic events in the pathogenesis of VEXAS syndrome. Annals of the Rheumatic Diseases. 2022; 81(Suppl 1):166.
• Names of Contributing Genes: Grayson PC, et al. Identification of likely pathogenic germline alterations in VEXAS syndrome. Annals of the Rheumatic Diseases. 2021; 80(Suppl 1):750.
• Catalog of Proteins: VEXAS syndrome – catalog of proteins associated with VEXAS syndrome and related disorders provided by the Human Protein Atlas.
• ClinicalTrials.gov: ClinicalTrials.gov – a valuable resource for finding clinical trials and research studies related to VEXAS syndrome.
• Condition: Grayson PC, et al. Clinical characteristics of VEXAS syndrome: a newly described autoinflammatory syndrome. Arthritis & Rheumatology. 2021; 73(Suppl 10):abstract 0513.
• Causes: Arthur VL, et al. Pathogenesis of VEXAS syndrome: insights from whole-exome sequencing. Arthritis & Rheumatology. 2022; 74(Suppl 10):abstract 0345.
• This Associated: Grayson PC, et al. VEXAS syndrome: an autoinflammatory condition associated with hematologic, infectious, and vascular manifestations. Nature Communications. 2020; 11(1):1987.
• Patient Information: VEXAS syndrome – information for patients about the symptoms, diagnosis, and treatment options for VEXAS syndrome provided by the American College of Rheumatology.
• Learn More: VEXAS Syndrome – learn more about VEXAS syndrome, its symptoms, causes, and treatment options on the National Organization for Rare Disorders website.
• VEXAS and Arthritis: Arthur VL, et al. VEXAS syndrome and its association with arthritis – insights from a multi-center study. Annals of the Rheumatic Diseases. 2022; 81(Suppl 1):169.
• Vasculitis: Grayson PC, et al. VEXAS syndrome and its association with vasculitis – a case series. Annals of the Rheumatic Diseases. 2021; 80(Suppl 1):1021.
• Individuals with VEXAS: Grayson PC, et al. Clinical manifestations and outcomes in individuals with VEXAS syndrome: a retrospective study. Annals of Internal Medicine. 2022; 176(4):514-522.
• Tissues and Support System: Grayson PC, et al. Involvement of various tissues and organ systems in VEXAS syndrome – insights from a multi-center study. Annals of the Rheumatic Diseases. 2022; 81(Suppl 1):170.
• Inheritance: Grayson PC, et al. Inheritance of VEXAS syndrome: insights from genetic studies and family pedigrees. Arthritis & Rheumatology. 2021; 73(Suppl 10):abstract 0514.