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

View Details
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

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
Top

How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

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

View Details
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

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
 
 
Top

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 202 free, full-text research articles on human participants. First 3 results:

Lung Transplantation for Lymphangioleiomyomatosis in Japan.
 

Author(s): Katsutoshi Ando, Yoshinori Okada, Miki Akiba, Takashi Kondo, Tomohiro Kawamura, Meinoshin Okumura, Fengshi Chen, Hiroshi Date, Takeshi Shiraishi, Akinori Iwasaki, Naoya Yamasaki, Takeshi Nagayasu, Masayuki Chida, Yoshikazu Inoue, Toyohiro Hirai, Kuniaki Seyama, Michiaki Mishima,

Journal:

 

Lung transplantation has been established as the definitive treatment option for patients with advanced lymphangioleiomyomatosis (LAM). However, the prognosis after registration and the circumstances of lung transplantation with sirolimus therapy have never been reported.

Last Updated: 16 Jan 2016

Go To URL
Role of Prolactin Receptors in Lymphangioleiomyomatosis.
 

Author(s): Amira Alkharusi, Elena Lesma, Silvia Ancona, Eloisa Chiaramonte, Thomas Nyström, Alfredo Gorio, Gunnar Norstedt

Journal:

 

Pulmonary lymphangioleiomyomatosis (LAM) is a rare lung disease caused by mutations in the tumor suppressor genes encoding Tuberous Sclerosis Complex (TSC) 1 and TSC2. The protein product of the TSC2 gene is a well-known suppressor of the mTOR pathway. Emerging evidence suggests that ...

Last Updated: 15 Jan 2016

Go To URL
Malignant presentation of uterine lymphangioleiomyomatosis.
 

Author(s): Dariusz Szpurek, Sebastian Szubert, Pawel Zielinski, Andrzej Frankowski, Stefan Sajdak, Rafal Moszynski

Journal: Taiwan J Obstet Gynecol. 2015 Oct;54(5):603-7.

 

The main aim of this case report was to present the method of diagnosis, management, and the 12-year-follow-up of a patient diagnosed with primary uterine lymphangioleiomyomatosis (LAM).

Last Updated: 2 Nov 2015

Go To URL

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 30 free, full-text review articles on human participants. First 3 results:

Towards personalised therapy for lymphangioleiomyomatosis: lessons from cancer.
 

Author(s): Souheil El-Chemaly, Elizabeth P Henske

Journal: Eur Respir Rev. 2014 Mar;23(131):30-5.

 

Lymphangioleiomyomatosis (LAM) is a rare cystic, destructive lung disease occurring almost exclusively in females. Bi-allelic inactivating tuberous sclerosis complex (TSC) gene mutations occur in LAM cells, resulting in activation of the mTORC1 pathway. Pivotal clinical trials have ...

Last Updated: 4 Mar 2014

Go To URL
LAM cells biology and lymphangioleiomyomatosis.
 

Author(s): Irmina Grzegorek, Katarzyna Drozdz, Marzenna Podhorska-Okolow, Andrzej Szuba, Piotr Dziegiel

Journal: Folia Histochem. Cytobiol.. 2013 ;51(1):1-10.

 

Progressive lung tissue destruction in lymphangioleiomyomatosis (LAM) occurs as a result of excessive proliferation of LAM cells caused by a mutation in one of the tuberous sclerosis complex suppressor genes, TSC1 or TSC2. These cells show constitutive activation of the mammalian ...

Last Updated: 21 May 2013

Go To URL
Targeted approaches toward understanding and treating pulmonary lymphangioleiomyomatosis (LAM).
 

Author(s): Stephen R Hammes, Vera P Krymskaya

Journal: Horm Cancer. 2013 Apr;4(2):70-7.

 

Pulmonary lymphangioleiomyomatosis (LAM) is a rare disease found almost exclusively in women that is characterized by neoplastic growth of atypical smooth muscle-like cells in the lung, destruction of lung parenchyma, and obstruction of lymphatics. These processes lead to the formation ...

Last Updated: 25 Feb 2013

Go To URL
 
 
Top

Symptoms, Diagnosis, and Treatment

There are currently no related results available in Genetics Home Reference.

There are currently no related results available in GeneReviews.

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

 
 
Top

Clinical Trial Information This information is provided by ClinicalTrials.gov

Nebulized or Inhaled Albuterol for Lymphangioleiomyomatosis
 

Status: Recruiting

Condition Summary: Lymphangioleiomyomatosis

 

Last Updated: 30 Sep 2016

Go to URL
Safety and Efficacy of Saracatinib In Subjects With Lymphangioleiomyomatosis
 

Status: Recruiting

Condition Summary: Pulmonary Lymphangioleiomyomatosis

 

Last Updated: 28 Nov 2016

Go to URL
Safety and Durability of Sirolimus for Treatment of LAM
 

Status: Recruiting

Condition Summary: Lymphangioleiomyomatosis

 

Last Updated: 1 May 2015

Go to URL