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Lung

Follow-up and Treatment

angiomyolipomaclick to enlarge photograph

Pulmonologist Jayaraj Rajagopal consults with Laurie and her family about her LAM.

Because of the risks LAM poses to a small percentage of women with TSC, specialists strongly recommend that all women with TSC undergo regular high-resolution chest CT scans beginning sometime before the age of 18, or at the time of TSC diagnosis for women older than 18. The initial CT scan establishes a baseline against which future exams can be compared to determine if the disease shows any signs of progression. It is also common for physicians to test the breathing capacity of women with TSC as part of their regular checkup. These screenings can help identify problems and provide opportunities to prevent some complications or treat them before they worsen.

Treatment options for LAM vary widely in their effectiveness and the ease with which they are administered. In general, they fall into two categories: those given to manage the symptoms or complications of the disease, and those given in an effort to slow LAM's progression.

To manage the symptoms of LAM, people diagnosed with the disorder are typically advised to follow a regimen of regular exercise as well as a healthful lifestyle, which includes not smoking. Physicians also recommend that people with LAM be vaccinated against influenza and pneumococcal pneumonia to help prevent respiratory infections. To relieve minor breathing difficulties, people with LAM can use inhalers typically used to treat asthma. However, more invasive medical procedures may be necessary to manage the complications associated with LAM. These include procedures to reverse a collapsed lung. In rare cases, lung transplantation becomes necessary. As of 2006, this is the only effective treatment for cases of advanced LAM and severe pulmonary complications.

Although scientists aren't certain what role the hormone estrogen might play in LAM, recently they have found that LAM cells have estrogen receptors in their cell membranes. This suggests that the hormone may somehow stimulate these cells to proliferate. Researchers are now treating cases of LAM with hormones, such as progesterone, that reduce the release of estrogen, as well as medications, such as tamoxifen, that block the effects of estrogen, to see if these therapies have an effect on the progression of the disease. However, because LAM is relatively rare, and sample sizes from these studies are small, the effectiveness of hormone therapies has been inconclusive so far. As of 2006, it was not known if this type of therapy has any significant long-term benefit in the treatment of LAM.

The link between LAM and estrogen presents a serious risk to women with the lung disease who wish to have children. Pregnancy causes a dramatic increase in the level of estrogen in the body, which has been shown to cause a progression of LAM in some women. Specialists often advise women with LAM to avoid pregnancy. As a result, those who have been diagnosed with LAM should consult with their physicians before getting pregnant. Doctors also recommend they avoid taking estrogen from sources such as birth control pills, which contain the hormone.

Researchers are also conducting clinical trials on a promising drug called Rapamycin. Researchers think that Rapamycin may prevent the damage caused by TSC by helping cells that have lost the ability to limit cell growth regain that control. If a drug such as Rapamycin is effective in restoring control of cell growth, it may help to slow or to stop the growth of lesions in any organ, including the lung. (For more information about clinical trials, see Research.)

Laurie, profiled in the TSC Family Stories section of this site, has lung and kidney involvement and is participating in the Rapamycin trial.


Laurie

This video features 38-year-old Laurie, who has cognitive limitations. Her kidneys and lungs have also been affected by TSC. [duration 10:50]
Show Video | Read Transcript

Next Steps

It is important to remember:

  • Most people with TSC suffer few if any complications with their lungs.
  • Women stand the greatest risk of developing TSC-related tumors and cysts in their lungs, as well as a rare lung disease called lymphangioleiomyomatosis, or LAM.
  • Approximately 1 to 3 percent of women with TSC develop symptoms of LAM.
  • The relatively high rate of LAM among adult women compared to men suggests that estrogen may play a role in the disease's development.
  • Approximately 1 to 3 percent of women with TSC develop symptoms of LAM.
  • Some symptoms of LAM cause acute medical conditions such as a collapsed lung, or pneumothorax.
  • TSC specialists recommend routine chest CT scans for all women with TSC beginning prior to the age of 18, or upon diagnosis for women older than 18.
  • Pregnancy may dramatically increase the risk of serious lung complications among women with LAM. As a result, those who have been diagnosed with LAM should consult with their physicians before getting pregnant.
  • Physicians of TSC patients should be familiar with TSC-related lung abnormalities.
  • Physicians should have access to radiologists experienced in identifying lesions associated with LAM.

Relevant Specialists

Pulmonologist

A pulmonologist is a physician with specialized training in the anatomy, physiology, and pathology of the lungs and pulmonary system. A pulmonologist who is familiar with TSC will be able to identify in a CT image the various types of lesions associated with LAM, as well as the risks those lesions pose.

Radiologist

A radiologist is a person who creates and interprets images, including x-rays, ultrasounds, MRIs, and CT scans. A radiologist is trained to identify abnormalities in the lungs, such as tumors and cysts.

You can find a list of on-staff physicians on the Herscot Center for Children and Adults with TSC Web site.

Resources

LAM Foundation
http://lam.uc.edu
The LAM Foundation provides education and support for women with lymphangioleiomyomatosis (LAM).

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This content was last reviewed on March 30, 2006.