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Genetic and Rare Diseases Information Center (GARD)

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Lymphangioleiomyomatosis


Other Names for this Disease

  • LAM
  • Lymphangio-myomatosis
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Your Question

Please send me any information regarding treatment and/or clinical trials for this rare disease.

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What is lymphangioleiomyomatosis (LAM)?

Lymphangioleiomyomatosis (lim-FAN-je-o-LI-o-MI-o-ma-TO-sis), or LAM, is a rare lung disease that mostly affects women in their mid-forties. In LAM, an unusual type of cell begins to grow out of control throughout the body, including in the lungs, lymph nodes and vessels, and kidneys. Over time, these LAM cells form cysts and clusters of cells, which grow throughout the lungs and slowly block the airways. They also destroy the normal lung tissue and replace it with cysts. As a result, air cannot move freely in and out of the lungs, and the lungs cannot supply enough oxygen to the body’s other organs.[1]

More than 1 out of every 3 people with LAM also develops growths called angiomyolipomas, or AMLs, in their kidneys. People with LAM also may develop:[1]
  • Growths in other organs, including the liver and brain
  • Large tumors on their lymph nodes

  • There are two forms of LAM:[1]
  • Sporadic LAM, which occurs for unknown reasons
  • LAM that occurs in people with a rare inherited disease called tuberous sclerosis complex. This is often a milder form.
  • Last updated: 7/16/2013

    How is lymphangioleiomyomatosis (LAM) treated?

    While there is currently no cure for LAM, research has led to major progress in the treatment of symptoms, and diagnosing and understanding LAM. There are a number of treatments that may relieve symptoms or prevent complications from the disease. Treatments vary from patient to patient, depending on the severity of the disease. No all patients have the same response to treatment.[2][3]

  • Medicines (e.g., diuretics, hormone therapy, bronchodilators that relax the muscles around the airways)
  • Oxygen therapy - as lung capacity declines, supplemental or full-time oxygen therapy may become necessary
  • Sirolimus therapy - Rapamycin (sirolimus) blocks the pathway that is affected in LAM cells, which helps stop their uncontrolled growth. The use of sirolimus therapy may be considered in patients with moderate to severe LAM, or those with progressive disease.
  • Procedures to remove air or fluid from the chest or abdominal cavities and prevent it from building up again
  • Procedures to remove angiomyolipoma (AML), or benign kidney tumors
  • Lung transplantation - a procedure to replace one or both lungs, this should be considered as a last resort due to the risk of serious adverse reactions, including major bleeding, pneumonia, pulmonary edema, long-term infections, and possibly painful scarring.
  • Since LAM occurs almost exclusively in women of reproductive age, researchers believe the hormone estrogen might be involved in the abnormal muscle cell growth that characterizes the disease. Although there is no direct evidence that there is a relationship between estrogen and LAM, the treatment of LAM has focused on reducing the production or effects of estrogen. This could include estrogen or other hormone suppressing drugs. Additionally, doctors believe pregnancy may accelerate the progression of LAM. Women with LAM are urged to speak with a health care professional before getting pregnant.[3]

    Last updated: 7/16/2013

    Are there currently any clinical trials for lymphangioleiomyomatosis (LAM)?

    The U.S. National Institutes of Health, through the National Library of Medicine, developed ClinicalTrials.gov to provide patients, family members, and members of the public with current information on clinical research studies To learn more about how you can become involved in clinical research, please see the Research section of this webpage.

    The LAM Foundation supports past an ongoing research for the causes and treatment of LAM. The LAM Foundation continues to support clinical trials to search for safe and effective treatments.[3]

    The National Institutes of Health (NIH) established the Rare Diseases Clinical Research Network (RDCRN) to facilitate collaboration among experts in many different types of rare diseases. The goal of the network is to contribute to the research and treatment of rare diseases by working together to identify biomarkers for disease risk, disease severity and activity, and clinical outcome, while also encouraging development of new approaches to diagnosis, prevention, and treatment. The RDCRN consists of ten consortia and a Data and Technology Coordinating Center (DTCC). One of these consortia is the Rare Lung Diseases Consortium (RLDC), a network of cooperating clinical centers and patient support organizations that are working with the National Institutes of Health (NIH) in a collaborative network whose novel structure is designed to accelerate clinical research and improve the delivery of medical care to individuals affected by rare lung diseases. To join the Contact Registry for LAM, click here.
    Last updated: 7/16/2013

    References
    Other Names for this Disease
    • LAM
    • Lymphangio-myomatosis
    See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.