Lymphangioleiomyomatosis (LAM) is a rare disease that affects the lungs. It affects one out of one million people and in the vast majority of known cases, women in their thirties and forties are the ones who develop this disease. LAM is characterized by the growth of abnormal muscle tissue that grows throughout the lungs. This tissue may also develop in the kidneys and lymph nodes. As the tissue grows and spreads throughout the lungs, holes in the normal lung tissue form which allows air to escape into the outside cavity which then causes the lung to collapse.
Women who have the early stages of LAM will at first only exhibit symptoms that may be mistaken for other illnesses such as asthma, emphysema, and bronchitis. Shortness of breath will occur after physical exertion as well as some chest pain, wheezing, and coughing. Over time, the symptoms will include increased periods of shortness of breath, enlarged lymph nodes, blood in the urine, pleural effusions (fluid accumulation in the chest cavity), abdominal swelling, and collapsed lung.
Diagnoses for this disease are performed in a number of ways. A lung function test is performed to measure the volume of air the lungs can hold and how well oxygen is delivered to the blood. Blood tests are used to measure chemicals that normally occur in the blood. If the balance is off, that will indicate that something is not functioning properly. Chest x-rays are also employed as a way to directly look at the lungs and surrounding organs. Collapsed lungs and larger abnormal growths will be visually apparent if the patient has a more advanced case of LAM. An even better way to look at the lungs and other potentially affected organs is the HRCT scan. This type of scan is more effective than a chest x-ray as it creates a computer-generated image that will show much more detail. The HRCT scan is better at diagnosing early cases of LAM as it will catch smaller details of affected tissue such as smaller cysts of the abnormal cells and can differentiate normal tissue from the abnormal. Lastly, biopsies may be performed to remove small pieces of lung tissue that will be tested for the presence of LAM cells. Biopsies are not always an effective means of diagnosing LAM in its early stages as the LAM cells may not be present in the small tissue sample taken from the lung.
Unfortunately, there is no cure for LAM. Only methods of treatment to make breathing easier and increase the quality of life are available. Bronchodilators are commonly used to open up airways to enable patients to take deeper breaths. Hormone therapies used to decrease the amount of estrogen in the body have also been used to reduce the amount of LAM tissue from spreading. Lung transplants have been employed with mixed success. Patients who undergo this invasive and risky operation may face the risk of rejection of the new lungs by the body or a reoccurence of LAM tissue in the new lungs. Rapamycin, a drug originally intended to keep the body from rejecting kidney transplants, is showing promise as a method of treatment for LAM patients. This drug has been shown to reduce the size of LAM cell clusters and improve breathing ability. Studies are still being performed on the effectiveness of this drug and what the potential side effects of its use may be in patients who use it both short and long term.
Patients who have LAM can still live a fairly normal life as long as they visit their doctor regularly and take precautions to limit their exposure to situations that may create more complications. As more research goes into this illness, more options for treatments and possibly a cure can be found.
References:
http://www.nhlbi.nih.gov/health/dci/Diseases/lam/lam_whatis.html
http://www.ersj.org.uk/content/27/5/1056.full#sec-11
http://emedicine.medscape.com/article/299545-treatment
