Lymphangioleiomyomatosis (LAM) is a rare, progressive lung disease that causes abnormal cysts to grow in the lungs, lymph nodes and kidneys and mostly affects women of childbearing age. In the lungs, LAM obstructs the airways, damages lung tissue and results in lower oxygen levels in the blood and can lead to respiratory failure. The rate of disease progression varies considerably from patient to patient.
Although there is no cure for LAM, expert medical care can slow the disease’s progress, extend life and increase quality of life.
The physicians and surgeons at the Center for LAM Research and Clinical Care at The Lung Center at Brigham and Women’s Hospital’s provide comprehensive, specialized treatment and management of this rare disease. This expertise and collaboration helps patients live as well and as long as possible. In addition, genetic and pulmonary LAM research conducted at BWH is translated directly into exceptional patient care.
There are two forms of LAM:
Women with tuberous sclerosis complex (TSC) are at the greatest risk for LAM, affecting about three out of every ten women with TSC. Today, more than 800 women in the United States have been diagnosed with either LAM alone or LAM with TSC. This estimation is complicated by the fact that LAM is often misdiagnosed as a more common lung disease, such as emphysema, asthma or bronchitis.
More than 70 percent of women who develop LAM are between the ages of 20 and 40 when they first start experiencing symptoms. Signs and symptoms include:
Your physician will first conduct a complete medical history and evaluate your lung function using a spirometer which measures the amount of oxygen in your blood. If LAM is suspected, your physician will take a high-resolution CT scan (HRCT) to determine if you have any cysts, abnormal cell clusters, excess fluid or enlarged lymph nodes. Additional tests may include:
If these tests are inconclusive, your physician will take a biopsy of your lungs to look for LAM cells. Because this condition is so rare and difficult to diagnose, it is important to see a team of specialists who have experience in diagnosing LAM to perform these procedures.
Treating LAM focuses on preserving lung function, preventing complications and minimizing the severity of symptoms. You and your physician will work together to create a treatment plan that may include some of the following strategies.
Rapamycin is now approved by the FDA for the treatment of LAM. Rapamycin (sirolimus), has been shown in the landmark MILES trial to stabilize lung function in most women with LAM.
Learn more about rapamycin.
Your physician may also prescribe:
If you do not have enough oxygen in your blood, you may need supplemental oxygen. Many devices are available that deliver pure oxygen to your lungs, including small, portable tanks.
Learn more about the benefits of oxygen therapy.
Estrogen is believed to contribute to LAM cell growth, so your physician may suggest a hormone therapy that limits the effects of estrogen in your body or reduces your estrogen levels.
Your physician may suggest these surgical options to treat LAM:
Procedures to remove excess air or fluid from your chest or abdomen to alleviate shortness of breath, relieve discomfort and prevent future buildup. Learn more about pleural effusion. Lung transplantation may be necessary in some cases.
Learn more about lung transplantation and the Lung Transplant Program.
Coping with lymphangioleiomyomatosis (LAM) can be difficult as the disease progresses. It can affect many aspects of your life, including your:
You may want to discuss with your loved ones or health care providers how to seek the form of support that is right for you. That type of support may change over time as your needs change. Overall, it is important for you to take good care of your mental and physical health. This may include some of the following strategies:
It is important for you to take good care of your health. This means eating a healthy diet, being as physically active as you can (as advised by your doctor), getting plenty of rest and not smoking. It is also important to get a flu and pneumonia vaccination every year.
Be sure to meet with your healthcare team frequently to monitor your health. Check with your doctor, also, before traveling by air, to areas where medical attention is not readily available or to places with lower amounts of oxygen in the air.
The role of hormones in LAM is not well understood; the relationship between changes in hormone levels and disease progression is an active area of research.
If your lung function is normal, pregnancy may be an option. Because some doctors believe that hormones in your body during pregnancy may cause your disease to progress, it’s important to discuss pregnancy plans with both a pulmonologist and endocrinologist who specialize in LAM, as well as your obstetrician.
Adoption, gestational surrogacy and traditional surrogacy are some of the options that you may consider as viable alternatives to pregnancy.
This disease is progressive, leading to worsening lung function over time. The rate of progression varies considerably among LAM patients. Currently, women who receive expert care can survive for more than 20 years after diagnosis.
In the early stages of LAM, you can usually go about your daily activities, including attending school, working and performing common physical activities. As the disease advances, it may be harder for you to be active. You may require supplemental oxygen to perform your daily activities.
As LAM cells invade your lung tissue, you may be at risk for developing pleural effusions (leaking of fluid into your chest cavity), pneumothorax (lung collapse), enlarged lymph nodes, or angiomyolipomas (AMLs), or benign growths on your kidneys. Eventually, your lungs may not function properly and you may require evaluation for lung transplantation.
It is important to discuss your end-of-life wishes with your healthcare team and family. Your plan may include palliative and hospice care to help manage your pain.
The Palliative Care team at BWH includes physicians, nurse practitioners, social workers, clergy members and a personal case manager to manage pain and symptoms, as well as promote open communication about care. The Mass General Brigham Bridge to Hospice Program provides immediate home care to improve quality of life and comfort.
When you become a patient, our team of experts develops a personalized, multidisciplinary care plan based on the most current leading research. Your health will be closely monitored and managed to promote a greater quality of life.
If you require surgery, you will need to be seen for a pre-operative evaluation. On the day of your surgery, you will receive care from surgeons, anesthesiologists and specially trained nurses. After surgery, you will recover in the post-surgical care unit where you receive comprehensive care by an experienced surgical and nursing staff.
Collaboration between specialists in pulmonary and critical care medicine, thoracic surgery, urology, GYN oncology, dermatology, psychiatry, obstetrics, reproductive medicine, imaging, nutrition and lung transplantation provides patients with comprehensive, expert care for LAM at every stage.
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