Lymphangioleiomyomatosis

Common Name(s)

Lymphangioleiomyomatosis, Lymphangioleiomyomatosis (LAM)

Lymphangioleiomyomatosis (LAM) is a disorder that causes abnormal accumulations of cells as well as cysts, which are fluid-filled structures, in the lungs. LAM is caused by mutations in the TSC1 and TSC2 genes, which are involved in making proteins that help regulate the growth of certain cells. LAM cells are abnormal smooth muscle cells that grow and can block airways, blood vessels, and lymph vessels. In the lungs, these accumulations can block oxygen exchange to the blood, resulting in poor oxygen delivery to tissues. In addition to cyst development in the lungs, those affected by LAM often have kidney tumors that are benign or non-cancerous.

LAM almost always affects women. Symptoms usually begin around childbearing age. The overall average age of diagnosis is 48. LAM is a progressive disorder but develops at a various rates among different individuals. Symptoms include breathlessness and coughing up blood. A collapsed lung is often the first symptom women notice. LAM can be diagnosed by imaging of the lungs.

While there is currently no cure for LAM, there are treatment options to help manage the symptoms and prevent any complications. Treatments include drugs, oxygen treatment, removal of fluid from lungs, and lung transplant. If you have been diagnosed with LAM, talk to your doctor about the most current treatment options. In addition, a genetic counselor can help discuss inheritance and risks to other family members. Support groups are available for more resources and information.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Lymphangioleiomyomatosis" for support, advocacy or research.

LAM Treatment Alliance

The LAM Treatment Alliance (LTA) is a 501(c)(3) non-profit organization fostering innovative patient engagement and awareness of wellness within the context of LAM. The LTA provides tools, access, and information to patients in an effort to improve health, quality of life, and modulation of disease.

Last Updated: 13 Mar 2013

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The LAM Foundation

The LAM Foundation urgently seeks safe and effective treatments and ultimately a cure for LAM through advocacy and the funding of promising research. We are dedicated to serving the scientific, medical and patient communities by offering information, resources and a worldwide network of hope and support.

Last Updated: 3 Mar 2016

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General Support Organizations

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How do you compare to others with this condition?

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Lymphangioleiomyomatosis" for support, advocacy or research.

LAM Treatment Alliance

The LAM Treatment Alliance (LTA) is a 501(c)(3) non-profit organization fostering innovative patient engagement and awareness of wellness within the context of LAM. The LTA provides tools, access, and information to patients in an effort to improve health, quality of life, and modulation of disease.

http://www.curelam.org

Last Updated: 13 Mar 2013

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The LAM Foundation

The LAM Foundation urgently seeks safe and effective treatments and ultimately a cure for LAM through advocacy and the funding of promising research. We are dedicated to serving the scientific, medical and patient communities by offering information, resources and a worldwide network of hope and support.

http://www.thelamfoundation.org

Last Updated: 3 Mar 2016

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General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Lymphangioleiomyomatosis" returned 242 free, full-text research articles on human participants. First 3 results:

Lymphangioleiomyomatosis.
 

Author(s): Alyssa Sclafani, Paul VanderLaan

Journal: N. Engl. J. Med.. 2018 Jun;378(23):2224.

 

Last Updated: 31 Dec 1969

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Rapamycin-independent IGF2 expression in Tsc2-null mouse embryo fibroblasts and human lymphangioleiomyomatosis cells.
 

Author(s): Blanca E Himes, Kseniya Obraztsova, Lurong Lian, Maya Shumyatcher, Ryan Rue, Elena N Atochina-Vasserman, Stella K Hur, Marisa S Bartolomei, Jilly F Evans, Vera P Krymskaya

Journal:

 

Lymphangioleiomyomatosis (LAM) is a rare, almost exclusively female lung disease linked to inactivating mutations in tuberous sclerosis complex 2 (TSC2), a tumor suppressor gene that controls cell metabolic state and growth via regulation of the mechanistic target of rapamycin (mTORC1) ...

Last Updated: 31 Dec 1969

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Difference of the progression of pulmonary cysts assessed by computed tomography among COPD, lymphangioleiomyomatosis, and Birt-Hogg-Dubé syndrome.
 

Author(s): Kazunori Tobino, Toyohiro Hirai, Takeshi Johkoh, Kiminori Fujimoto, Atsushi Kawaguchi, Noriyuki Tomiyama, Kazuhisa Takahashi, Kuniaki Seyama

Journal:

 

Many groups developed the methods to quantitatively analyze low attenuation area (LAA) on chest CT in patients with cystic lung diseases. Especially in COPD, it was reported that the cumulative size distribution of LAA clusters follows a power law characterized by the exponent D, ...

Last Updated: 31 Dec 1969

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Lymphangioleiomyomatosis" returned 37 free, full-text review articles on human participants. First 3 results:

New insights in lymphangioleiomyomatosis and pulmonary Langerhans cell histiocytosis.
 

Author(s): Olga Torre, Davide Elia, Antonella Caminati, Sergio Harari

Journal:

 

Lymphangioleiomyomatosis (LAM) and pulmonary Langerhans cell histiocytosis (PLCH) are rare diseases that lead to progressive cystic destruction of the lungs. Despite their distinctive characteristics, these diseases share several features. Patients affected by LAM or PLCH have similar ...

Last Updated: 31 Dec 1969

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Pelvic lymphangioleiomyomatosis treated successfully with everolimus: Two case reports with literature review.
 

Author(s): Sharjil Wahid, Ping Chia Chiang, Hao Lun Luo, Shun-Chen Huang, Eing-Mei Tsai, Po Hui Chiang

Journal: Medicine (Baltimore). 2017 Mar;96(10):e4562.

 

Lymphangioleiomyomatosis (LAM) is a rare disease affecting young women caused by abnormal proliferation of smooth muscle-like cells (LAM cells) in the lungs and extrapulmonary sites (extrapulmonary LAM). The objective of this case series is to demonstrate marked regression in 2 cases ...

Last Updated: 31 Dec 1969

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Lymphangioleiomyomatosis: A Monogenic Model of Malignancy.
 

Author(s): Vera P Krymskaya, Francis X McCormack

Journal: Annu. Rev. Med.. 2017 01;68():69-83.

 

Lymphangioleiomyomatosis (LAM) is a rare, low-grade, metastasizing neoplasm that arises from an unknown source, spreads via the lymphatics, and targets the lungs. All pulmonary structures become infiltrated with benign-appearing spindle and epithelioid cells (LAM cells) that express ...

Last Updated: 31 Dec 1969

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

There are currently no related results available in Genetic Testing Registry.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

National Lymphangioleiomyomatosis Registry, France
 

Status: Recruiting

Condition Summary: Lymphangioleiomyomatosis

 

Last Updated: 22 Feb 2017

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Resveratrol and Sirolimus in Lymphangioleiomyomatosis Trial
 

Status: Recruiting

Condition Summary: Lymphangioleiomyomatosis

 

Last Updated: 19 Mar 2018

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A Study of Nintedanib for LymphAngioleioMyomatosis (LAM)
 

Status: Recruiting

Condition Summary: Lymphangioleiomyomatosis

 

Last Updated: 20 Feb 2017

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