Patient education: Lymphangioleiomyomatosis (The Basics)

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What is lymphangioleiomyomatosis (LAM)? — Lymphangioleiomyomatosis, or LAM, is a rare lung disease that affects mostly young women. In people who have LAM, certain muscle cells grow out of control. This leads to cysts (large spaces filled with air) forming in the lungs. Other parts of the body can also be affected, including the kidneys and pelvis.

Some people with LAM also have something called "tuberous sclerosis complex" or TSC. TSC is caused by an abnormal gene, and can happen in both women and men. It causes benign (non-cancer) growths inside the body and on the skin.

LAM gradually gets worse over time, although treatments can help slow it down and relieve symptoms. There is currently no cure for LAM. However, experts are studying different treatments and will continue to learn more about the disease.

What are the symptoms of LAM? — Common symptoms include:

●Trouble breathing, especially while exercising

●Feeling very tired

●A collapsed lung, also called a "pneumothorax" (figure 1)

●Fluid around the lungs, also called "pleural effusion"

Some people have other symptoms, too, such as:

●Chest pain

●Cough, or coughing up mucus or blood

Is there a test for LAM? — Yes. If your doctor thinks you might have LAM, they will order the following:

●Breathing tests – These tests measure how well the lungs are working. They are also called "pulmonary function tests" or "PFTs."

●A CT scan of the chest – A CT scan is an imaging test that creates pictures of the inside of the body. Doctors use this to check for cysts in the lungs that people with LAM often have.

If your CT scan shows cysts, you will most likely get more tests. This can help your doctor figure out if LAM or another problem is causing your symptoms. The tests might include:

●More imaging tests – This might include CT or MRI scans of your belly and pelvic areas. These tests can show other changes that sometimes happen in people with LAM, including growths on the kidneys. These growths are called "angiomyolipomas," and they are benign, which means they are not cancer. Other benign growths can sometimes form in other parts of the body, too.

●Blood tests – One test checks for a specific substance called "VEGF-D." The level of VEGF-D is often higher than normal in people with LAM. This requires your doctor or nurse to send a sample of your blood to a specific lab that can do this test.

Your doctor might do other blood tests, too.

●Removal of fluid from around the lungs – If you have fluid around your lungs, your doctor might remove it using a needle. The fluid is then sent to a lab for testing.

●A lung or lymph node biopsy – For a lung biopsy, a doctor does surgery or a procedure to take a small sample of tissue from the body. This can come from your lung or one of your lymph nodes. Then another doctor looks at the sample under a microscope. Not everyone needs a biopsy to confirm LAM.

How is LAM treated? — The treatment depends on how severe your symptoms are. Currently, treatment cannot cure LAM, but it can help slow down the disease and ease your symptoms.

If your lungs are still working well, you might not need treatment right away. Your doctor will want to see you every few months to give you breathing tests.

If you do need treatment, it might include:

●Medicines – If you have severe symptoms, fluid around your lungs, or a large kidney growth due to LAM, you might get a medicine called sirolimus (brand name: Rapamune). If you cannot take sirolimus, a medicine called everolimus (brand names: Afinitor, Zortress) might be an option. Both of these medicines make your body's infection-fighting system (immune system) weaker than normal. Your doctor or nurse can talk to you about how to lower your risk of infections.

●Oxygen – Using extra oxygen might help make it easier to breathe.

●Lung transplant – This involves surgery to replace your lungs with healthy lungs. It is only considered for people with severe disease who cannot breathe well enough on their own. Some people with LAM never need a lung transplant.

●Pulmonary rehabilitation – This includes breathing exercises to help "strengthen" your lungs.

If you have a collapsed lung or fluid around your lungs, you will need treatment for those problems, too. There are different procedures that can help. In some cases you might need a chest tube to remove air or fluid from around your lungs.

Should I be in a clinical trial? — If you have LAM, you might want to be in a "clinical trial." A clinical trial is a research study that tests new medicines and treatments to see how well they work.

Being in a clinical trial might or might not change your symptoms or slow down your disease. But it can give doctors more information about LAM and how to treat it. Information from the trial can help them create new and better medicines and treatments. To find out more about being in a clinical trial, talk with your doctor.

What can I do to take care of myself? — There are things you can do on your own to stay as healthy as possible. You can:

●Avoid smoking – If you smoke, quitting will slow your disease and help you feel better. It's also important to avoid being around other people who are smoking.

●Get certain vaccines – Infections like the flu, pneumonia, and coronavirus 2019 (COVID-19) can be very hard on your lungs. It's important to try to prevent these illnesses by getting vaccinated.

●Eat a healthy diet and try to maintain a healthy weight.

●Get support – You might feel anxious or depressed. If you are struggling with these feelings, tell your doctor or nurse. They can get you the help you need. There are also support groups for people with LAM. It can help to talk to other people who are going through similar things. Even though LAM is a rare disease, there are still lots of people living with it around the world.

●Follow your doctor's instructions – There are certain things you will need to be careful about. For example, people with LAM should generally avoid high levels of the hormone estrogen, which is found in many forms of birth control. Also, people with LAM should not go deep-sea diving since this can cause a lung collapse. While most people can travel safely by airplane, it is possible to have a lung collapse during or after flight.

When should I call my doctor or nurse? — Call right away if you have chest pain or trouble breathing normally. These can be symptoms of a collapsed lung or fluid around your lung. You should also call if you suddenly start feeling worse or having any new symptoms.

What if I want to get pregnant? — If you want to try to get pregnant, talk to your doctor first. Pregnancy may make LAM worse. It also increases your risk of problems like a collapsed lung or fluid around the lungs.

Many people with LAM choose to avoid pregnancy. But some people are able to have a safe pregnancy and delivery. If you do get pregnant, you will need to be monitored closely. This will involve seeing the doctor who takes care of your LAM, plus another doctor who takes care of people with high-risk pregnancies.

What will my life be like? — It can be scary and overwhelming to learn you have a disease like LAM. But it's important to know that many people with LAM can live for many years and have a relatively normal life, especially if their disease is mild or not advancing quickly.

Your doctor or nurse can talk with you about how to stay as healthy as possible. This will involve regular appointments to check your lungs. They can also talk to you about how to care for yourself and when you should call for medical advice. Learning about your disease can help you feel more prepared.

It's important to get support from your family and friends, and to find activities you enjoy and can do safely. If you are struggling to cope with your feelings, talk to your doctor or nurse. They can help.

How can I learn more about LAM? — The LAM Foundation has a lot of information. They can also help you connect with other people living with LAM. Their website is www.thelamfoundation.org.