Understanding LAM Lung Disease: Symptoms, Causes, Diagnosis, and Treatment

LAM lung disease, short for lymphangioleiomyomatosis, is a rare lung condition that primarily affects women of childbearing age. In this disease, abnormal muscle cells grow and spread throughout the lungs, forming cysts and causing breathing difficulties similar to emphysema. These cells can also develop into noncancerous tumors on organs in the abdomen and pelvis.

Causes of LAM Lung Disease

The exact cause of LAM lung disease is unknown. However, estrogen seems to play a role, as the condition rarely develops before puberty or after menopause. Smoking is not a known cause, and more than half of people with LAM have never smoked. LAM shares some similarities with tuberous sclerosis, another condition involving benign tumor growth.

Symptoms of LAM Lung Disease

The most common symptoms of LAM lung disease include:

• Shortness of breath

• Wheezing

• Cough (sometimes with blood)

• Pneumothorax (collapsed lung)

If muscle cells spread outside the lungs, additional symptoms may occur, such as:

• Chylous ascites (buildup of lymph fluid in the abdomen)

• Angiomyolipomas (noncancerous tumors in the liver or kidneys)

Diagnosing LAM Lung Disease

Due to its rarity, LAM lung disease is often initially misdiagnosed as asthma or emphysema. A proper diagnosis typically involves a combination of tests, including:

• Chest X-ray

• Pulmonary function tests

• Computed tomography (CT) scan, particularly high-resolution CT (HRCT)

• Lung biopsy (via bronchoscopy, thoracoscopy, or open lung biopsy)

Treatment Options for LAM Lung Disease

Sirolimus (Rapamune) is the first FDA-approved drug for treating LAM lung disease. It helps improve lung capacity and ease breathing. Other treatment options include:

• Inhaled bronchodilators (albuterol, ipratropium) to open airways

• Hormone-related treatments (progesterone, tamoxifen, synthetic luteinizing hormone-releasing hormones)

• Procedures to treat pneumothorax and prevent recurrence

• Lung transplantation for advanced, disabling cases

Patients with LAM should avoid smoking and exposure to secondhand smoke. Clinical trials are ongoing to identify new treatment options.

Prognosis and Outlook

LAM lung disease is progressive, and there is currently no cure. The rate of progression varies among individuals, with some experiencing rapid decline and others progressing more slowly. While nearly 90% of women with LAM survive 10 years after diagnosis, surviving beyond 20 years is rare.

Researchers continue to study the underlying mechanisms of LAM lung disease and develop new treatments. If you or a loved one has been diagnosed with LAM, it's essential to work closely with a healthcare team experienced in managing this rare condition.

For more information on LAM lung disease, visit:

• National Heart, Lung, and Blood Institute - LAM

• The LAM Foundation

• National Organization for Rare Disorders - LAM

The Bottom Line

LAM requires lifelong monitoring and hormone avoidance to slow its inevitable progression, with sirolimus offering modest but meaningful benefits for preserving lung function. Early recognition and proper management can significantly impact quality of life and timing of interventions like transplantation. If you're experiencing recurrent pneumothorax or unexplained breathing difficulties, Doctronic can help connect you with specialists for proper evaluation.