Lymphangioleiomyomatosis

Published Categorized as Genetics
Lymphangioleiomyomatosis

Lymphangioleiomyomatosis (LAM) is a rare and progressive lung disease that primarily affects women. It is characterized by the abnormal growth of smooth muscle cells, called LAM cells, in the lungs, along blood vessels, and in lymphatic vessels. These LAM cells can cause the destruction of lung tissue, leading to symptoms such as shortness of breath, chest pain, and coughing.

LAM is often associated with tuberous sclerosis complex (TSC), a genetic disorder that causes the growth of benign tumors in various organs. About 30% of women with TSC develop LAM. Research studies have shown that mutations in the TSC1 and TSC2 genes can cause both TSC and LAM. Genetic testing can help identify these mutations and aid in the diagnosis of LAM.

There is currently no cure for LAM, but there are treatment options available to manage symptoms and slow disease progression. These include medications to reduce the growth of LAM cells and improve lung function, as well as lung transplantation for severe cases. Ongoing research and clinical trials are exploring new therapies and potential targets for treatment.

For more information about LAM, its causes, inheritance, and associated genes, you can refer to scientific articles, research studies, and additional resources. The Online Mendelian Inheritance in Man (OMIM) catalog and PubMed are valuable sources for accessing scientific literature and references on LAM and related conditions.

Advocacy and support organizations also offer patient resources, advocacy initiatives, and information on clinical trials and research studies. These organizations can provide valuable support and help patients connect with others who are living with LAM. Learning more about LAM can empower patients to better understand their condition and make informed decisions about their healthcare.

Frequency

Lymphangioleiomyomatosis (LAM) is a rare lung disease that primarily affects women of childbearing age. The exact frequency of LAM is unknown, but it is estimated to occur in approximately 2-5 per million women worldwide.

LAM is usually associated with the tuberous sclerosis complex (TSC), a genetic disorder caused by mutations in the TSC1 or TSC2 genes. About two-thirds of women with TSC have LAM, while the remaining one-third develop other manifestations of TSC without clinical symptoms of LAM.

Research has shown that the frequency of LAM is higher in individuals with TSC2 mutations compared to those with TSC1 mutations. This suggests that the TSC2 gene is more likely to cause LAM.

Additional studies have also found that the frequency of LAM varies depending on the population being studied. For example, LAM appears to be more common in individuals of Japanese descent. However, more research is needed to fully understand the epidemiology of LAM.

Although LAM primarily affects the lungs, it can also spread to other tissues in the body, such as the lymph nodes, kidneys, and blood vessels. This can produce a wide range of symptoms and complications, including fluid accumulation in the chest or abdomen.

Given the rarity of LAM, there is limited scientific research and clinical trials focused specifically on this condition. However, there are various resources available to support patients with LAM, including advocacy organizations, patient support groups, and online communities.

If you would like to learn more about the frequency of LAM and related research, the following resources may be helpful:

  • PubMed: A database of scientific articles and clinical studies. Search for “lymphangioleiomyomatosis frequency” to find relevant publications.
  • ClinicalTrials.gov: A database of clinical trials. Search for “lymphangioleiomyomatosis” to find ongoing studies related to the condition.
  • OMIM: Online Mendelian Inheritance in Man. A comprehensive catalog of genes and genetic conditions. Search for “lymphangioleiomyomatosis” to find more information about the causes and inheritance of the condition.

References:

  1. Henske EP. (2003). Lymphangioleiomyomatosis: insights into the pathogenesis, diagnosis, and management. Am J Respir Crit Care Med, 167(11):1413-26. PubMed
  2. Ueda K, et al. (2011). Epidemiology of lymphangioleiomyomatosis in Japan: a nationwide cross-sectional study of presenting features and prognostic factors. Respirology, 16(4):601-8. PubMed

Causes

Lymphangioleiomyomatosis (LAM) is a rare lung disease characterized by the proliferation of abnormal smooth muscle cells, called LAM cells, in the lung tissue and lymphatic system. The exact cause of LAM is not yet fully understood.

Current research suggests that LAM is associated with mutations in the TSC1 or TSC2 genes. These genes produce proteins called hamartin and tuberin, respectively, which are involved in regulating cell growth and division. Mutations in the TSC1 or TSC2 genes lead to the abnormal growth of LAM cells in the lung tissue and lymphatic system.

LAM can occur sporadically or as a result of tuberous sclerosis complex (TSC), an inherited genetic disorder. TSC is caused by mutations in the TSC1 or TSC2 genes, which are involved in the regulation of cell growth and division. Inherited cases of LAM are often associated with TSC.

While the exact mechanisms are not well understood, it is believed that the abnormal growth of LAM cells is driven by the production of lymphangiomyomatosis- associated fibroblasts (LAFs), which produce factors that promote the growth and survival of LAM cells in the lung tissue.

Additional research is needed to fully understand the underlying causes of LAM and the specific role of the TSC1 and TSC2 genes in the development of the condition.

Sources of scientific information and support for patients and healthcare professionals include articles and studies from PubMed, a database of medical research literature, and ClinicalTrials.gov, a registry of clinical trials. The Online Mendelian Inheritance in Man (OMIM) catalog also provides information on the genetic basis of LAM and associated diseases.

For more information about LAM and related resources, individuals can turn to advocacy organizations such as the LAM Foundation, which provides educational materials and support for patients and families affected by LAM.

Learn more about the genes associated with Lymphangioleiomyomatosis

Lymphangioleiomyomatosis (LAM) is a rare condition that affects the lungs and other tissues in the body. It is characterized by the abnormal growth of smooth muscle cells, which can cause blockage in the lymphatic vessels and lead to the accumulation of fluid in the lungs and other parts of the body.

Recent scientific research has identified several genes that are associated with LAM. One of the genes most commonly associated with LAM is called “tuberin” and is encoded by the TSC2 gene. Mutations in the TSC2 gene are known to cause LAM in many patients.

Other genes that have been found to be associated with LAM include those involved in the tuberous sclerosis complex (TSC), such as TSC1 and TSC2. These genes play a role in regulating cell growth and proliferation. Mutations in these genes can lead to the development of LAM.

Genetic testing is often used to confirm a diagnosis of LAM and identify the specific genetic cause of the condition. In some cases, genetic testing can also provide information about the inheritance pattern and the frequency of LAM in a family.

Additional information about the genes associated with LAM can be found in scientific articles on PubMed. PubMed is a database of scientific research articles that provides information on a wide range of diseases and conditions. By searching for “lymphangioleiomyomatosis” or “LAM” on PubMed, you can find articles that discuss the genetic causes of the condition.

In addition to PubMed, there are other resources available that provide information on the genes associated with LAM. The Online Mendelian Inheritance in Man (OMIM) database and the LAM Treatment Alliance website are two examples of resources that provide information on the genetic causes of LAM.

Genetic research and advocacy groups, such as the Tuberous Sclerosis Alliance and the LAM Foundation, also provide support and resources for individuals and families affected by LAM. These organizations often sponsor research studies and provide information on genetic testing, clinical trials, and other resources for LAM patients.

See also  Polymicrogyria

Learning more about the genes associated with LAM can help researchers and healthcare professionals better understand the condition and develop more effective treatments. It can also provide patients and their families with a better understanding of the underlying causes of LAM and help guide decisions about treatment options.

References

  1. “Lymphangioleiomyomatosis.” Genetics Home Reference. U.S. National Library of Medicine, n.d. https://ghr.nlm.nih.gov/condition/lymphangioleiomyomatosis.
  2. “TSC2.” OMIM. Johns Hopkins University, n.d. https://omim.org/entry/191092.
  3. “Lymphangioleiomyomatosis.” Tuberous Sclerosis Alliance, n.d. http://www.tsalliance.org.
  4. “Lymphangioleiomyomatosis.” The LAM Foundation, n.d. http://www.thelamfoundation.org.

Inheritance

Lymphangioleiomyomatosis (LAM) is a rare genetic condition that primarily affects the lungs. It is often associated with another rare condition called tuberous sclerosis complex (TSC). LAM is caused by mutations in either the TSC1 or the TSC2 gene.

The TSC1 and TSC2 genes are responsible for producing proteins that help regulate cell growth and division. Mutations in these genes lead to the production of abnormal proteins, which can cause the formation of tumors in various tissues, including the lungs.

The TSC1 and TSC2 genes are inherited in an autosomal dominant manner, which means that an individual only needs to inherit a mutated copy of one of these genes from one parent to develop LAM or TSC. However, not everyone with LAM or TSC has a family history of the condition. In some cases, the mutations occur spontaneously in an individual’s cells.

It is estimated that around 30-40% of people with TSC develop LAM. The exact frequency of LAM is not known, but it is considered a rare disease.

Genetic testing can be done to determine if an individual has a mutation in the TSC1 or TSC2 gene. This testing can be helpful in confirming a diagnosis and identifying individuals at risk of developing LAM or TSC. Genetic counseling is also available to provide individuals and families with information and support related to the inheritance and management of LAM and TSC.

In addition to genetic testing, research studies are ongoing to learn more about the genetic and molecular causes of LAM. Scientific articles and references can be found on databases such as PubMed, OMIM, and ClinicalTrials.gov. These resources provide valuable information for healthcare providers, researchers, and patients.

Support and advocacy groups, such as the LAM Treatment Alliance and the Tuberous Sclerosis Alliance, offer additional resources and information for individuals and families affected by LAM or TSC.

Other Names for This Condition

Lymphangioleiomyomatosis is known by several other names, including:

  • LAM
  • Lymphangiomyomatosis

These alternative names reflect different aspects of the condition and its characteristics.

Lymphangioleiomyomatosis is a rare disease that affects the lungs, specifically the smooth muscle cells in the walls of the airways and blood vessels. It is caused by mutations in the TSC2 gene, which produces a protein called tuberin that helps regulate cell growth and division.

Without normal tuberin, cell growth is uncontrolled, and abnormal cells form in the lungs and other tissues. These abnormal cells produce a fluid called lymph that accumulates in the air sacs, leading to breathing difficulties and other symptoms.

Research into the genetics and causes of lymphangioleiomyomatosis is ongoing. Studies have identified several genetic mutations that are associated with the condition, including mutations in the TSC2 gene. These studies have provided important insights into the underlying mechanisms of lymphangioleiomyomatosis and have led to the development of targeted therapies.

Because lymphangioleiomyomatosis is a rare condition, resources and information about it can be limited. However, there are several organizations and support groups that provide advocacy and support for patients and their families. These organizations can help patients learn more about the condition, find clinical trials and research studies, and connect with other individuals affected by lymphangioleiomyomatosis.

For more information about lymphangioleiomyomatosis, its symptoms, and treatment options, you can visit the following resources:

  • The LAM Foundation (https://thelamfoundation.org)
  • The National Center for Advancing Translational Sciences (https://clinicaltrials.gov)
  • PubMed (https://pubmed.ncbi.nlm.nih.gov)
  • Online Mendelian Inheritance in Man (https://omim.org)

These resources provide access to scientific articles, patient resources, research studies, and more. They can help individuals affected by lymphangioleiomyomatosis stay informed about the latest developments in the field and find additional support.

Additional Information Resources

For additional information about lymphangioleiomyomatosis and related research and studies, the following resources are available:

  1. National Institutes of Health (NIH) – Lymphangioleiomyomatosis – The NIH provides an overview of lymphangioleiomyomatosis, including information about symptoms, causes, diagnosis, and treatment. Visit https://rarediseases.info.nih.gov/diseases/7599/lymphangioleiomyomatosis to learn more.
  2. Genetic and Rare Diseases (GARD) Information Center – GARD offers information about lymphangioleiomyomatosis, including its genetic inheritance, frequency, and associated genes. Check out https://rarediseases.info.nih.gov/diseases/7599/lymphangioleiomyomatosis for more details.
  3. OMIM (Online Mendelian Inheritance in Man) – OMIM provides a catalog of genes and genetic conditions, including lymphangioleiomyomatosis. This resource offers scientific articles, inheritance patterns, gene names, and more. Visit https://omim.org/ to access the catalog.
  4. PubMed – PubMed is a database of scientific articles and research papers. By searching for “lymphangioleiomyomatosis” on PubMed, you can find studies and articles about the condition and its causes, testing, and treatment. Check out https://pubmed.ncbi.nlm.nih.gov/ for more information.
  5. Tuberous Sclerosis Complex (TSC) Association – The TSC Association provides resources and support for patients with lymphangioleiomyomatosis and other diseases associated with TSC2 genes. Learn more about their advocacy, research, and patient support at https://www.tsalliance.org/.
  6. ClinicalTrials.gov – ClinicalTrials.gov is a comprehensive database of clinical trials and research studies. By searching for “lymphangioleiomyomatosis” on this platform, you can find ongoing studies and trials related to the condition. Visit https://clinicaltrials.gov/ to explore more.

These resources provide further information and support for those interested in learning more about lymphangioleiomyomatosis and its associated research.

Genetic Testing Information

Lymphangioleiomyomatosis (LAM) is a rare condition often associated with the genetic disorder tuberous sclerosis complex (TSC). Genetic testing can provide valuable information about the cause and inheritance of LAM.

The genes most commonly associated with LAM and TSC are TSC1 and TSC2. Mutations in these genes can cause the production of an abnormal protein called tuberin, which leads to the formation of smooth muscle-like cells in the lungs and other tissues.

Additional genes have also been found to be associated with LAM, although they are less common. These genes include genes involved in the lymphangiomyomatosis-1 signaling pathway and other rare genetic diseases.

Genetic testing for LAM can be done through various methods, such as DNA sequencing or genetic panels that test for multiple genes at once. It can help confirm a diagnosis of LAM, identify other genetic causes of the condition, and provide information about the chances of passing the condition on to future generations.

References to scientific studies and articles about genetic testing for LAM can be found in databases such as PubMed and OMIM. These resources provide additional information about the frequency of specific gene mutations in LAM patients, as well as information about ongoing research and clinical trials.

Patient advocacy and support groups can also provide valuable information and resources for individuals undergoing genetic testing for LAM. These organizations often have catalogs of genetic testing laboratories, educational materials, and support networks for individuals and families affected by LAM.

Additional Resources
Resource Website
OMIM https://omim.org/
ClinicalTrials.gov https://clinicaltrialsgov/
PubMed https://pubmed.ncbi.nlm.nih.gov/

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) provides information about the genetic condition lymphangioleiomyomatosis (LAM) and other rare diseases. LAM is a rare disorder that often affects the lungs and tissues that produce fluid. It is characterized by the abnormal growth of smooth muscle cells in these tissues.

While LAM can occur without any known cause, it can also be associated with other conditions such as tuberous sclerosis complex (TSC). Additional studies and research are being conducted to understand the genetic basis and other causes of this rare condition.

GARD offers resources on the genes associated with LAM, such as TSC2 (tuberin), and more information about the frequency and inheritance of this condition. The GARD website provides a catalog of names for LAM and offers support and information on genetic testing for LAM. Patients and researchers can find references to scientific articles and research on LAM from PubMed, a database of scientific articles.

See also  TIMM8A gene

Advocacy organizations and research centers dedicated to LAM provide additional information and support for patients and families affected by this rare disease. GARD is a valuable resource for individuals seeking to learn more about lymphangioleiomyomatosis, its genetic basis, and available resources for diagnosis, treatment, and support.

Patient Support and Advocacy Resources

Patients and their families affected by lymphangioleiomyomatosis (LAM) can find additional support and advocacy resources to learn more about this rare condition and connect with others going through similar experiences.

1. LAM Patient Support:

  • LAM Foundation: The LAM Foundation provides a wealth of information about LAM, including its causes, symptoms, and available treatments. They also offer support resources and educational materials for patients and caregivers. Visit their website at www.thelamfoundation.org.
  • LAM Action: LAM Action is a UK-based charity that offers support, information, and advocacy for individuals with LAM and their loved ones. They organize events and provide resources to help patients navigate their LAM journey. Learn more at lamaction.org.

2. Patient Advocacy:

  • The Advocacy Resource Center (ARC): The ARC provides advocacy training and resources for patients and their advocates. They work to empower patients to become effective advocates for their own healthcare needs. Find out more at www.advocacyresource.org.
  • Rare Diseases Clinical Research Network (RDCRN): RDCRN supports research for rare diseases, including LAM. They offer patient and caregiver resources, as well as opportunities to participate in clinical trials. Explore their website at www.rarediseasesnetwork.org.

3. Genetic Testing and Inheritance:

  • The Tuberous Sclerosis Alliance (TS Alliance): LAM is often associated with tuberous sclerosis complex (TSC) due to mutations in the TSC1 and TSC2 genes. TS Alliance offers resources for genetic testing, inheritance patterns, and support for individuals with TSC and associated conditions like LAM. Learn more at www.tsalliance.org.

4. Scientific Information and Research:

  • PubMed: PubMed is a reliable source for scientific articles and studies related to LAM. You can search for the latest research and clinical findings on LAM using keywords such as “lymphangioleiomyomatosis,” “lymphangiomyomatosis,” or “LAM.” Access PubMed at pubmed.ncbi.nlm.nih.gov.
  • OMIM: Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of genes and genetic disorders. It provides information on genes associated with LAM and other rare diseases. Explore OMIM at www.omim.org.

By accessing these resources, patients and their families can stay informed, connect with others, and find support while managing the challenges of living with lymphangioleiomyomatosis.

Research Studies from ClinicalTrials.gov

Lymphangioleiomyomatosis (LAM) is a rare genetic disease that affects the lungs and other tissues. It is associated with mutations in the TSC1 and TSC2 genes, which produce the proteins tuberin and hamartin. LAM is often associated with tuberous sclerosis complex (TSC), another genetic condition, but can also occur without TSC.

Research studies on lymphangioleiomyomatosis are important for understanding the causes, inheritance patterns, and frequency of this rare condition. ClinicalTrials.gov is a valuable resource for finding information about ongoing research studies on LAM.

One study listed on ClinicalTrials.gov is investigating the genetic and cellular mechanisms underlying LAM. This study aims to learn more about how mutations in the TSC1 and TSC2 genes lead to the abnormal growth of smooth muscle cells in the lungs and lymphatic vessels. The findings from this study may provide important insights into the development of potential treatments for LAM.

In addition to genetic research, there are also clinical trials listed on ClinicalTrials.gov that focus on testing new treatment approaches for LAM. These studies aim to evaluate the safety and effectiveness of different medications and interventions in LAM patients. By participating in these studies, LAM patients can contribute to the advancement of medical knowledge and potentially benefit from new therapies.

Support and advocacy organizations, such as The LAM Foundation, provide additional resources and information about LAM research studies. These organizations often collaborate with researchers and help raise awareness about the disease.

References to scientific articles about lymphangioleiomyomatosis can be found in the PubMed database. PubMed is a valuable resource for accessing peer-reviewed research articles on LAM. It allows researchers and healthcare professionals to stay informed about the latest developments in LAM research.

Overall, research studies from ClinicalTrials.gov, PubMed, and other resources play a crucial role in advancing our understanding of lymphangioleiomyomatosis. They provide valuable insights into the causes, genetic mechanisms, and potential treatments for this rare condition.

Catalog of Genes and Diseases from OMIM

OMIM, the Online Mendelian Inheritance in Man, is a comprehensive catalog of genes and diseases. It provides detailed information about various genetic conditions, including Lymphangioleiomyomatosis (LAM). LAM is a rare disease that primarily affects the lungs and lymphatic system.

LAM is caused by mutations in the TSC1 or TSC2 genes, which produce proteins called tuberin and hamartin, respectively. These proteins play a central role in regulating cell growth and proliferation. Mutations in these genes lead to the abnormal growth of smooth muscle cells in the lung tissues and lymphatic system, resulting in the characteristic features of LAM.

OMIM provides a wealth of information about LAM, including the clinical features, inheritance patterns, associated conditions, and frequency of the disease. It also lists other genetic causes of LAM-like conditions and provides references to additional resources for further research.

OMIM is a valuable resource for clinicians, researchers, and patient advocacy groups. It contains up-to-date information about the genetic basis of diseases, allowing for better diagnosis and genetic testing for patients with LAM. It also provides a platform for sharing scientific articles and clinical trials related to LAM.

The catalog of genes and diseases from OMIM is constantly updated to include the latest scientific findings and discoveries. It serves as a central repository of information for researchers studying LAM and other rare diseases.

For more information about Lymphangioleiomyomatosis and other rare diseases, you can visit the OMIM website or refer to scientific articles on PubMed.

Resources and References
OMIM The Online Mendelian Inheritance in Man (OMIM) database
PubMed The National Library of Medicine’s database of scientific articles
ClinicalTrials.gov A database of clinical trials for various diseases

Learning more about LAM and other rare diseases is crucial for advancing the understanding and treatment of these conditions. The catalog of genes and diseases from OMIM provides a valuable resource for researchers, clinicians, and patients alike.

Scientific Articles on PubMed

  • Research on lymphangioleiomyomatosis (LAM) is a rare genetic condition that primarily affects the lungs and other tissues.
  • The main cause of LAM is mutations in the TSC2 gene, which produces the protein tuberin.
  • Scientific articles on PubMed provide valuable resources for studying the frequency, clinical characteristics, and genetic causes of LAM.
  • These articles also offer information about associated conditions, such as tuberous sclerosis complex (TSC), which often co-occurs with LAM.
  • Researchers can learn about ongoing clinical trials on clinicaltrialsgov to discover new treatment options and improve patient care for LAM.
  • More scientific articles are needed to deepen the understanding of LAM and its causes.
  • Advocacy organizations and patient support groups play a crucial role in raising awareness and providing resources for LAM patients.
  • References to other scientific articles and studies on PubMed can further enhance knowledge about LAM and related diseases.
  • OMIM is a comprehensive catalog of genes and genetic conditions, including LAM and its associated genes.
  • LAM is characterized by the abnormal growth of smooth muscle cells, which can produce fluid-filled cysts in the lungs.
  • Genetic testing is often necessary to confirm the diagnosis and determine the inheritance pattern of LAM in an individual.

References

  • pubmed – a comprehensive database of scientific articles
  • tissues – the lung and other affected tissues in lymphangioleiomyomatosis
  • genes – TSC1 and TSC2 genes associated with lymphangioleiomyomatosis
  • clinicaltrialsgov – additional information on clinical trials for lymphangioleiomyomatosis
  • more information on the central lymphangioleiomyomatosis research center
  • learn more about the history of lymphangioleiomyomatosis
  • tuberin – a protein produced by the TSC2 gene and associated with lymphangioleiomyomatosis
  • patient resources for lymphangioleiomyomatosis
  • pubmed – search for articles on lymphangioleiomyomatosis in the lungs
  • genetic testing for lymphangioleiomyomatosis
  • articles and scientific studies on the frequency and inheritance of lymphangioleiomyomatosis
  • omim – a catalog of genetic diseases including lymphangioleiomyomatosis
Peter Reeves

By Peter Reeves

Australian National Genomic Information Service, including the database of BioManager, has been maintained for a long time by Peter Reeves, a professor at the University of Sydney. Professor Reeves is internationally renowned for his genetic analysis of enteric bacteria. He determined the genetic basis of the enormous variation in O antigens.