Health A-Z

Lymphangioleiomyomatosis (LAM) is a rare, progressive lung disease that primarily affects women. It is characterized by the abnormal growth of smooth muscle-like cells (known as LAM cells) in the lungs, lymphatic vessels, and other organs. Here's an overview of its symptoms, treatment options, and diagnosis.

1. Shortness of Breath: Dyspnea (shortness of breath) is a common symptom of LAM, which may worsen over time as the disease progresses.

2. Cough: Persistent cough, sometimes with coughing up blood (hemoptysis), can occur in individuals with LAM.

3. Pneumothorax: Spontaneous pneumothorax (collapsed lung) is a common complication of LAM, resulting from the rupture of lung cysts.

4. Fatigue: Many individuals with LAM experience fatigue, which can impact daily activities and quality of life.

5. Other Symptoms: Additional symptoms may include chest pain, wheezing, recurrent respiratory infections, and abdominal swelling (due to lymphatic involvement).

1. Medications:

   • Sirolimus (Rapamycin): Sirolimus, an immunosuppressive medication, is the only FDA-approved treatment for LAM. It can help slow disease progression and improve lung function by inhibiting the abnormal growth of LAM cells.
   • Bronchodilators: Bronchodilator medications may be prescribed to help alleviate symptoms such as wheezing and improve airflow in the lungs.
   • Supplemental Oxygen: Oxygen therapy may be recommended for individuals with severe hypoxemia (low blood oxygen levels) to improve oxygenation and relieve symptoms of dyspnea.

2. Lung Transplantation: In advanced cases of LAM with severe respiratory impairment, lung transplantation may be considered as a treatment option to improve survival and quality of life.

3. Pneumothorax Management: Treatment of pneumothorax typically involves chest tube insertion to evacuate trapped air and re-expand the lung. In some cases, pleurodesis (a procedure to prevent recurrence of pneumothorax) may be performed.

1. High-Resolution Chest CT Scan: Imaging studies such as high-resolution chest CT scans can help identify characteristic features of LAM, including multiple thin-walled lung cysts and pleural effusions.

2. Lung Function Tests: Pulmonary function tests (PFTs) may show a restrictive pattern with reduced lung volumes and impaired gas exchange in individuals with LAM.

3. Biopsy: Biopsy of affected tissues (e.g., lung, lymph nodes) may be performed to confirm the presence of LAM cells and exclude other conditions with similar clinical presentations.