(Lymphangioleiomyomatosis) is pronounced lim-fan-gee-o-lyo-myo-ma-to-sis
"Lymph" and "angio" refer to the lymph and blood vessels
"Leiomyomatosis" refers to the formation of bundles of unusual muscle cells that form in the lungs. Breaking it down.

LAM (short for Lymphangioleiomyomatosis) is a fatal, rare, multi-system disease that kills women from all races, classes and countries, primarily while in their child bearing years. It affects the lungs, kidneys, lymphatic system, and at times the brain.
In LAM an unusual type of smooth muscle cell grows uncontrollably and invades the tissues of the lungs, including the airways, and blood and lymph vessels. The accumulation of LAM cells form cell clusters and cysts, which destroy healthy tissue throughout the lungs, kidneys and other organs. Over time, these cells destroy the normal lung tissue and block the flow of air, drastically reducing the oxygen intake by the lungs. The disease progressively destroys lung tissue making walking, talking - end eventually breathing impossible.

The exact number of people living with LAM is not known. Though just thousands of cases of LAM have been recorded, scientists estimate that many hundreds of thousands of women may be undiagnosed or misdiagnosed because of the commonality of the symptoms, which are similar to those of asthma, bronchitis or emphysema.

More than 1 out of every 3 women with LAM develops growths called angiomyolipomas (AMLs) in their kidneys.

There are two forms of LAM: sporadic LAM, in which the disease comes on for unknown reasons, and LAM that appears in people with a rare inherited disease called tuberous sclerosis complex (TSC).  Tuberous sclerosis is another rare disease, which causes tumors to form in many organs, particularly in the kidneys, brain, heart, eyes, lungs, and skin. There may be other causes of LAM, but we do know that there is a genetic link between LAM and tuberous sclerosis.

LAM cells are very similar to cells found in the lungs of patients with tuberous sclerosis complex (TSC). As many as 39 percent of women with TSC also have LAM.

The symptoms of LAM include shortness of breath (especially following periods of exertion), chest pain, and a frequent cough, sometimes with bloody phlegm. LAM can lead to other serious conditions, including a collapsed lung, blood in the urine, and abdominal swelling.

Because many of the early signs and symptoms of lymphangioleiomyomatosis (LAM) are similar to those of other lung diseases, including asthma, emphysema and bronchitis, LAM can be difficult to diagnose. In fact, many women have LAM and don't know it.

To confirm or rule out LAM, doctors usually do a chest x ray, lung function tests, blood tests, pulse oximetry, high resolution CT scans, and lung biopsy. Doctors have not yet found any treatments to slow or stop the growth of the cell clusters or cysts that are the main features of LAM. As a result, most treatments are aimed at relieving symptoms and preventing complications. These treatments include inhaled bronchodilators, oxygen therapy, removal of air or fluid from your chest or abdominal cavities, and lung transplantation. Several medicines are now being investigated as possible treatments for LAM, including rapamycin.

Most women with LAM can usually continue to be active in the early stages of the disease. If the condition becomes worse, they may not be able to be active, and they may need oxygen full time.

While there is currently no cure or effective treatment for LAM, research and clinical studies are underway to find treatments that will stop or delay the development of LAM. There are also a number of treatments that may relieve symptoms or prevent complications from the disease. That is, they do not treat LAM, but aim to relieve symptoms or prevent additional complications from the disease.  The response to treatment varies from patient to patient. Potential treatments include:

• 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
• 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
  
  

The Multicenter International LAM Efficacy of Sirolimus (MILES) Trial will test sirolimus (rapamycin), the first drug to show promise as a treatment for LAM. Sirolimus is currently approved to prevent the immune system from rejecting kidney transplants and has shown benefit in treating benign kidney tumors known as angioliopomas. For more information about this study or to enroll, click here.