What is Lymphangioleiomyomatosis?

Lymphangioleiomyomatosis is a very rare disease that causes overgrowth of cells called smooth muscle cells. This cell type is present in many of the body’s organs and tissues. This disease affects mainly the lungs and the lymph nodes of the immune system, and it leads to dysfunction and the eventual destruction of these tissues. Lymphangioleiomyomatosis occurs mainly in women of premenopausal age, and it is thought that female hormones are involved in the development of the disease.

The causes of this disease are largely unknown, and little is known about its progression. What is known is that overgrowth of smooth muscle tissue leads to the growth of multiple cyst-like formations in the lymph nodes, lungs and kidneys, and it causes the development of multiple abdominal tumors. In the lungs, cysts can obstruct the bronchioles, causing obstruction of airways and reduced lung capacity. Lymph nodes become obstructed and enlarged, and abdominal tumors can cause digestive symptoms and massive fluid retention.

Common symptoms of lymphangioleiomyomatosis include a cough and shortness of breath, which worsens as the disease progresses. Some patients also show signs of pneumothorax, which occurs when air enters the chest cavity because of a damaged or collapsed lung. Pneumothorax is a life-threatening medical condition and requires emergency treatment, but people with lymphangioleiomyomatosis can show signs of pneumothorax without actually having the condition.

Other possible symptoms of lymphangioleiomyomatosis include crackling and wheezing noises in the lungs, which can be heard upon examination, and fluid build-up in the lungs, called pleural effusion. Over time, clubbing of the fingers can develop. This symptom, in which the fingertips become flattened and club-like, is a sign of chronic oxygen starvation.

So little is understood about this disease that a standard treatment regimen does not exist, and no cure is available. Most forms of treatment involve treating the symptoms of the disease, such as fluid build-up in the lungs and abdomen, and the use of medications and supplemental oxygen to aid in breathing. Female hormones are thought to be involved in the development of the disease, so some experimental treatments involve hormone therapy. For patients with severe lung disease who are in otherwise good general health, a lung transplant might be considered.

Lymphangioleiomyomatosis eventually causes destruction of lung and kidney tissue, so it invariably is a fatal disease. Even so, with improved diagnosis, treatment and understanding of the progression of the disease, the outlook for newly diagnosed people has become much more favorable. Statistics indicate that about 75 percent of patients with this condition survive for as long as eight-and-a-half years after diagnosis.