LAM Symptoms and Diagnosis

What Are the Symptoms of LAM?

Some people with LAM may initially have no or only mild symptoms. For others, LAM may first be detected when you develop a pneumothorax or collapsed lung. Pneumothorax causes sharp chest pains and shortness of breath, which may be mild to severe. 

Other common symptoms of LAM include:

• Shortness of breath, without a pneumothorax
• Fatigue
• Chest pain
• Wheezing
• Cough
• Lightheadedness

How LAM Is Diagnosed

Symptoms of LAM can be similar to many other respiratory diseases, which can delay diagnosis. If your healthcare provider suspects LAM, they will complete a medical exam and ask about your symptoms. There are several tests they may suggest.

• CT scan: Your provider may order a CT scan to get a better picture of your lungs and identify potential cysts. A CT scan alone is not enough to confirm LAM. CT imaging of the abdomen can help determine if you also have LAM related kidney lesions known as angiomyolipomas.
• Chest X-ray: An x-ray will look at the structures in and around your chest. This could identify a collapsed lung (pneumothorax) or fluid build-up in your chest cavity.
• Lung function tests: These tests help to determine how well your lungs are working. 
• Blood VEGF-D level tests: This blood test may be ordered to test levels of vascular endothelial growth factor-D (VEGF-D). A significant number of people with LAM have elevated levels of this protein, so this should be checked before performing a more invasive procedure.
• Blood oxygen level: Blood tests, such as an arterial blood gas (ABG), can measure oxygen and carbon dioxide levels in the blood.
• Genetic testing: This test looks for specific mutations, or changes, in the TSC1 and TSC2 genes, which would help confirm whether you have the hereditary form of LAM.

If these tests are not enough to make a definitive diagnosis, your provider may need to order a lung biopsy.