LAM

TSC-LAM occurs in some people who have a rare genetic disease called tuberous sclerosis complex (TSC). This type of LAM is more common than sporadic LAM.

Sporadic LAM occurs in people who do not have TSC. This type of LAM is not hereditary, meaning you cannot pass it on to your children.

• Treatment will discuss the latest clinical recommendations about not using hormone therapy to treat LAM.

LAM is more common in women of childbearing age, but it can occur after menopause.

LAM is a rare disease that affects mostly women. Women who have TSC have an increased risk of developing TSC-LAM.

If you have TSC, your doctor may recommend the following tests.

• High-resolution chest computed tomography scans to look for early signs of lung damage
• Pulmonary function tests to monitor how well your lungs are working

If you have TSC-LAM, your doctor may recommend genetic counseling before you get pregnant to help you understand the risk of passing TSC and LAM on to your children.

There are no current ways to prevent LAM. If you have TSC, your doctor may recommend that you not smoke or take medicines with hormones such as estrogen. This may help slow down the development of LAM.

• Diagnosis will discuss tests and procedures that your doctor may use to diagnose LAM.
• Living With will discuss what your doctor may recommend to prevent your LAM from getting worse or causing complications.

The most common signs and symptoms are:

• Chest pain or aches that may worsen when you breathe in
• Fatigue
• Frequent cough that may occur with bloody phlegm
• Lymph nodes that are larger than normal. These usually occur in the abdomen or the chest. Very rarely, larger than normal lymph nodes may occur in locations where they can be felt, or palpated, such as the neck or under the arms.
• Pneumothorax or collapsed lung. This potentially life-threatening condition can be a sign as well as a complication of LAM. Pneumothorax occurs when air leaks out of the lung and into the space between the lung and chest wall, an area called the pleural space. In LAM, a pneumothorax can occur if lung cysts rupture through the lining of a lung. Air that collects in the space between the lung and chest wall must be removed to reinflate the lung.
• Shortness of breath that at first may occur only during high-energy activities but over time may happen after simple activities such as dressing and showering
• Wheezing or a whistling sound when you breathe

Complications of LAM can be serious and life threatening. Possible complications include the following:

• Kidney or other tumors. Many women who have LAM get tumors in their kidneys. Women who have LAM may also develop large tumors in the lymph nodes or in other organs such as the liver.
• Pleural effusions. This condition can occur if bodily fluids collect in the pleural space between the lung and the chest wall. The fluid may contain a milky substance called chylothorax. The excess fluid in the chest may cause shortness of breath because the lung has less room to expand.
• Pneumothorax
• Swelling or fluid buildup in the body. This can happen in the abdomen, pelvic area, legs, ankles or feet. Pain may also occur with the swelling.

• Diagnosis will discuss tests and procedures used to detect signs of LAM and help rule out other conditions that may mimic LAM.
• Treatment will discuss treatment-related complications or side effects.

Your doctor will ask you about your medical history to see whether you have signs and symptoms. Your doctor may ask how long you have had symptoms and whether your symptoms have become worse over time.

Your doctor may order blood tests, breathing tests, and imaging tests to measure how your lung tissue is working, and whether you have LAM. These tests can also show whether your lungs are delivering enough oxygen to your blood. Your doctor may also have you undergo other diagnostic tests, such as a lung biopsy, if other tests are inconclusive.

• Chest X-ray. In the early stages of LAM, your chest X-rays may look normal. As the disease gets worse, the X-rays may be used to detect cysts in your lungs and monitor any changes over time. Your doctor may use a chest X-ray to look for complications of LAM, such as a collapsed lung or fluid in your chest.
• High-resolution computed tomography (CT) scan to provide detailed pictures of your lungs and detect lung cysts, excess fluid, a collapsed lung, or lymph nodes that are larger than normal. The test can also show damage to the lungs. High-resolution CT scans of your abdomen and pelvis can show whether you have tumors in your kidneys, other organs in your abdomen, or your lymph nodes.
• Pulmonary function tests to show how well your lungs are working and measure the amount of air you breathe in and out.
• Blood test for vascular endothelial growth factor D (VEGF-D) to look for increased VEGF-D levels in your blood. VEGF-D can be involved in the spread of tumors by stimulating the growth of new blood vessels. VEGF-D levels of 800 pg/mL (picograms per milliliter) or more may suggest a diagnosis of LAM.
• Biopsy of the lungs to check for LAM cells. There are several types of lung biopsy. Open lung biopsy involves making a cut in your chest wall between your ribs. With transbronchial biopsy, your doctor will insert a long tube down your windpipe and into your lungs. Your doctor also can diagnose LAM using the results from biopsies of other tissues such as from the lymph nodes. Video-assisted thoracoscopic surgery (VATS) is often done in lieu of a more invasive open lung surgery that requires a large chest incision, or after transbronchial biopsy that may not definitively diagnose LAM. This surgery does require general anesthesia to make you sleep. Your doctor will insert a small, lighted tube into little cuts made in your chest wall.

Your doctor may need to order other diagnostic tests to determine whether you have TSC or to rule out another condition.

• CT scans or magnetic resonance imaging (MRI) scans of your head to help your doctor determine whether you have TSC. People who have TSC often have tumors in the brain and other parts of the body.
• Genetic testing to identify mutations in your TSC1 and TSC2 genes can help your doctor confirm that you have LAM and not another lung disease.
• Thoracentesis to collect fluid samples from the lining of your lungs. If your chest imaging tests show that you have pleural effusions, your doctor may order a pleural fluid analysis. For this test, a fluid sample is taken from the pleural space, which is a thin space between the two layers of tissue that line the lungs and chest cavity. The fluid is studied for a milky substance called a chylothorax.

• Return to Risk Factors to review family history and genetic factors that increase your risk of developing LAM.
• Return to Signs, Symptoms, and Complications to review common signs and symptoms of LAM.

Your doctor may prescribe sirolimus to treat your symptoms or bronchodilators to help open up your airways.

• mTOR inhibitors, such as sirolimus, to help regulate the abnormal growth and movement of LAM cells. Sirolimus stabilizes lung function and improves quality of life, shrinks abnormal kidney and lymph node growths, and reduces abnormal fluid in the lungs. Sirolimus may cause side effects such as diarrhea, nausea, acne, high blood cholesterol, swelling of your mouth and lips, and fluid buildup in your legs. Sirolimus may also affect the function of your ovaries, liver, and kidneys and increase your risk of infections. If you have LAM, talk with your doctor about the benefits and risks of sirolimus, and whether it is an option for you.
• Bronchodilators to relax the muscles around the airways if you are having trouble breathing or are wheezing. These medicines help the airways open up, making it easier for you to breathe.

The following medicines or procedures are not recommended to treat LAM:

• Doxycycline did not show a clinical benefit when used to treat LAM.
• Hormone therapies including certain medicines—progestins, gonadotropin-releasing hormone (GnRH) agonists, and selective estrogen receptor modulators (SERMs) such as tamoxifen—or surgical procedures such as removing one or both ovaries. While these therapies had previously been used to treat LAM, newer analyses suggest that they may not benefit all people who have LAM. If you are taking any of these hormone medicines or are considering a surgical procedure to remove your ovaries, talk to your doctor.

Living With will discuss medicines your doctor may prescribe to help prevent complications such as osteoporosis.

Your doctor may recommend oxygen therapy to increase the amount of oxygen your lungs receive and deliver to your blood. At first, you may need oxygen only while exercising. It may also help to use it while sleeping. Eventually, you may need full-time oxygen therapy.

Some patients who have severe lung damage due to advanced LAM may be eligible for a lung transplant. While lung transplants can improve lung function and quality of life for eligible patients, they have a high risk of complications, including infections and rejection of the transplanted lung by the body.

• Research for Your Health will discuss how we are using current research and advancing research to treat people who have LAM.
• Participate in NHLBI Clinical Trials will discuss our open and enrolling clinical studies that are investigating treatments for LAM.
• Living With will discuss what your doctor may recommend including life-long lifestyle changes and medical care to prevent your condition from getting worse or causing complications.

Your doctor may recommend vaccines to prevent lung infections, lifestyle changes to improve your overall health and avoid some complications, tests or medicines to care for your bones, and pregnancy and birth control options.

• Follow your treatment plan. It is important that you follow your doctor’s instructions for your treatment. It may take several months for you to respond to treatment. If you stop taking your medicines your symptoms may return or get worse.
• Get regular vaccinations for lung health. To help prevent additional problems with your lungs, talk with your doctor about getting a pneumococcal pneumonia vaccine and a yearly influenza or flu shot.

If you have LAM, it is important for you to have routine follow-up care so your doctor can monitor your condition. In the early stages of LAM, you usually can do your normal daily activities. These may include attending school, going to work, and doing common physical activities such as walking up stairs. In the later stages of LAM, you may find it harder to be active and you may need oxygen therapy.

Serious and possibly life-threatening complications can occur if you have LAM. Women who have LAM may develop pneumothorax. LAM may cause death from respiratory failure. Read more about possible signs, symptoms, and complications of LAM.

Living with LAM may cause fear, anxiety, depression, and stress. Your doctor can evaluate how your condition is affecting your activity level and mental health. To improve your quality of life, your doctor may recommend steps you can take.

• Getting counseling, particularly cognitive behavioral therapy.
• Joining a patient support group, which may help you adjust to living with LAM. You can see how other patients manage similar symptoms and their condition. Talk with your doctor about local support groups or check with an area medical center.
• Seeking support from family and friends can help relieve stress and anxiety. Let your loved ones know how you feel and what they can do to help you.
• Taking medicines or other treatments. Your doctor may recommend medicines, such as antidepressants, or other treatments that can improve your quality of life.

If you have LAM, it is important that you take good care of your health. Your doctor may recommend that you adopt the following healthy lifestyle changes.

• Healthy eating to improve overall health.
• Being physically active. Physical activity improves bone mineral density, muscle strength, flexibility, and posture. Before starting any exercise program, ask your doctor about what level of physical activity is right for you.
• Quitting smoking. If you smoke, quit. Also, try to avoid other lung irritants, such as dust, chemicals, and secondhand smoke. Visit Smoking and Your Heart and the National Heart, Lung, and Blood Institute's Your Guide to a Healthy Heart. For free help quitting smoking, you may call the National Cancer Institute's Smoking Quitline at 1-877-44U-QUIT (1-877-448-7848).

Your doctor may recommend these lifestyle changes as part of a larger pulmonary rehabilitation program that your doctors oversee.

Your doctor may recommend taking the following steps to prevent complications from LAM.

• Avoid air travel if you have symptoms of a collapsed lung. This includes sudden shortness of breath or chest pain. Talk to your doctor before traveling to places where the amount of oxygen in the air is low.
• Avoid scuba diving, which may increase your risk of complications.
• Care for your bones. Some women who have LAM may be at risk for osteoporosis. Your doctor may order tests to measure your bone density. If you have lost bone density, your doctor may prescribe medicines or calcium and vitamin D supplements to prevent more bone loss.

Your doctor may recommend procedures to treat the following complications of LAM:

• Pleural effusion. Your doctor may recommend removal of fluid from your chest, called thoracentesis, or abdomen, called paracentesis. This may help relieve discomfort and shortness of breath. Your doctor often can remove the fluid with a needle and syringe. If large amounts of fluid buildup in your chest, your doctor may have to insert a tube into your chest to remove the fluid.
• Pneumothorax. Removing air from your chest may relieve shortness of breath and chest pain caused by a pneumothorax. Removal of air in an abnormal location in your chest usually is done with a tube. The tube is inserted into your chest between your ribs. Often, the tube is attached to a suction device. If this procedure does not work, or if your lungs repeatedly collapse, you may need surgery to prevent a pneumothorax or to assist re-expansion of your lung.
• Kidney tumors. Kidney tumors, or angiomyolipomas, often do not cause symptoms, but sometimes they can cause ongoing pain or bleeding. If this happens, you may need surgery to remove some of them. If bleeding is not too severe, a radiologist often can block the blood vessels feeding the kidney tumors. This may cause them to shrink.

Because hormone changes during pregnancy can worsen LAM, it is important to talk to your pulmonologist and obstetrician, a doctor that specializes in pregnancy and childbirth, before you get pregnant.

Most doctors do not recommend birth control pills containing estrogen to women who have LAM because estrogen is thought to contribute to or worsen LAM. If you have LAM, talk to your doctors about birth control options.

Return to Treatment to review possible treatment options for your LAM.