Lymphangioleiomyomatosis (LAM)

Overview and Facts about Lymphangioleiomyomatosis (LAM)

Lymphangioleiomyomatosis (LAM) is a rare disease characterized by an abnormal growth of smooth muscle-like cells, especially in the lungs, lymphatic system, and kidneys. This growth of cells leads to blockage of the bronchial tubes and lymphatic vessels.

The formation of cysts and holes may also occur in the lungs. This progressive disease primarily affects women of childbearing age, typically in their 30s and 40s.

Signs and Symptoms of Lymphangioleiomyomatosis (LAM)

Due to the abnormal growth of smooth muscle-like cells and cysts in the lungs of patients who have LAM, the following symptoms may occur:

• Shortness of breath, which can get worse over time
• Chest pain (pleurisy)
• Chronic cough
• Bloody phlegm
• Wheezing
• Collapsed lung (pneumothorax)
• Excessive accumulation of fluid (pleural effusion) within the pleural space - the cavity that exists between the lungs and underneath the chest wall.
• Fatigue

Causes and Risk Factors of Lymphangioleiomyomatosis (LAM)

LAM results from mutations, or changes, in two genes called TSC1 and TSC2. A hereditary form of the disease also occurs in patients who have tuberous sclerosis disease.

While it is not understood why this disease predominantly affects women, researchers believe that estrogen (the female sex hormone) may be involved in the development of the disorder.

Tests and Diagnosis of Lymphangioleiomyomatosis (LAM)

Accurately diagnosing LAM can be challenging because many of its symptoms mimic those of other lung diseases, such as asthma, bronchitis and emphysema. Several tests can be performed to make a proper diagnosis, including:

• High-resolution computed tomography (CT) scan: creates a sharp picture to evaluate the presence of lung cysts or fluid around the lungs.
• Lung function tests: include tests that measure lung size and air flow; other tests assess how well oxygen gets into the blood from the air you breathe.
• Biopsy: a piece of lung tissue is examined under a microscope to provide an accurate diagnosis.

Treatment and Care for Lymphangioleiomyomatosis (LAM)

There is currently no cure for LAM; however, treatments—under the care of pulmonology and critical care specialists—are available to help manage symptoms and prevent complications. Medications with the drug sirolimus as well as everolimus are prescribed to help improve lung function.

Various procedures can be performed to remove fluid from the chest, or to shrink angiomyolipomas of the kidney. Sirolimus can also be used to shrink large angiomyolipomas. Oxygen therapy is required for those with advanced lung disease. A lung transplant is performed in severe cases.