Methods for diagnosing LAM have improved. It's now possible for doctors to diagnose the disease at an early stage.
LAM is diagnosed based on your signs and symptoms and the results from tests and procedures. If you have LAM, you may need to see a pulmonologist. This is a doctor who specializes in lung diseases and conditions.
Your doctor will ask about your signs and symptoms related to LAM. He or she may ask how long you’ve had symptoms, and whether they’ve become worse over time.
Many of LAM’s signs and symptoms are the same as those of other diseases, such as asthma, emphysema, and bronchitis. Your doctor will want to rule out those conditions before making a final diagnosis.
Your doctor may recommend tests to show how well your lungs are working and what your lung tissue looks like.
These tests can show whether your lungs are delivering enough oxygen to your blood. You also may have tests to check for complications of LAM.
Lung function tests. For lung function tests, you breathe through a mouthpiece into a machine called a spirometer (spi-ROM-eh-ter). The spirometer measures the amount of air you breathe in and out.
Other lung function tests can show about how much air your lungs can hold and how well your lungs deliver oxygen to your blood.
Blood tests. Your doctor may take a blood sample from a vein in your arm to look at your blood cells and blood chemistry.
Pulse oximetry. For this test, a small sensor is attached to your finger or ear. The sensor uses light to estimate how much oxygen is in your blood.
Chest x ray. A chest x ray creates a picture of the structures in your chest, such as your heart and lungs. The test can show a collapsed lung or fluid in your chest. In the early stages of LAM, your chest x rays may look normal. As the disease gets worse, the x rays may show cysts in your lungs.
High-resolution CT (HRCT) scan. The most useful imaging test for diagnosing LAM is an HRCT scan. This test creates a computer-generated picture of your lungs. The picture shows more detail than the pictures from a chest x ray.
An HRCT scan can show cysts, shadows of cell clusters, excess fluid, a collapsed lung, and enlarged lymph nodes. The test also can show how much normal lung tissue has been replaced by the LAM cysts.
HRCT scans of your abdomen and pelvis can show whether you have growths in your kidneys, other abdominal organs, or lymph nodes.
The results from the above tests—along with information about your signs, symptoms, and medical history—might be enough for your doctor to diagnose LAM.
However, if your doctor needs more information, the most useful method involves looking at samples of your lung tissue for LAM cells.
You may want to see a doctor who specializes in LAM for this test. Several procedures can be used to get a sample of lung tissue.
Video-assisted thoracoscopy (tho-rah-KOS-ko-pe). In this procedure, also called VAT, your doctor inserts a small, lighted tube into little cuts made in your chest wall. This lets him or her look inside your chest and snip out a few small pieces of lung tissue.
VAT is done in a hospital. The procedure isn’t major surgery, but it does require general anesthesia (that is, you’re given medicine to make you sleep during the procedure).
Open lung biopsy. In this procedure, your doctor removes a few small pieces of lung tissue through a cut made in your chest wall between your ribs. An open lung biopsy is done in a hospital. You’ll be given medicine to make you sleep during the procedure.
Open lung biopsies are rarely done anymore because the recovery time is much longer than the recovery time from VAT.
Transbronchial biopsy. In this procedure, your doctor inserts a long, narrow, flexible, lighted tube down your windpipe and into your lungs. He or she then snips out bits of lung tissue using a tiny device.
This procedure usually is done in a hospital. Your mouth and throat are numbed to prevent pain.
The amount of tissue that your doctor removes is very small, so this test doesn’t always provide enough information.
Other biopsies. Your doctor also can diagnose LAM using the results from other tissue biopsies, such as biopsies of lymph nodes or lymphatic tumors called lymphangiomyomas.
If you’re diagnosed with sporadic LAM, your doctor may advise you to have a computed tomography (CT) scan or magnetic resonance imaging (MRI) scan of your head. These tests can help screen for underlying tuberous sclerosis complex (TSC).
CT and MRI scans will reveal TSC in only a small number of people who are initially diagnosed with sporadic LAM.
Researchers are exploring other tests that may help diagnose LAM. These tests include blood tests for the LAM cells or a blood vessel growth factor called VEGF-D.
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