Lymphangioleiomyomatosis causes damage to lung tissue that results in such problems as inability of fully oxygenate blood, fluid in the lungs and collapsed lung. Although there is no cure, treatment include drugs that can improve lung function, oxygen therapy and lung transplantation for those with severe disease.
Lymphangioleiomyomatosis (LAM) is a lung disease caused by the abnormal growth of smooth muscle cells, especially in the lungs and lymphatic system. This abnormal growth leads to the formation of holes or cysts in the lung.
People who have LAM have trouble breathing because it is more difficult to move air in and out of the bronchial tubes. Also, the replacement of normal lung tissue with cysts or holes weakens the ability of the lungs to move oxygen into the bloodstream.
Cysts or holes also put patients at risk for developing pneumothorax, which is a buildup of air or gas in the lining (pleura) of the the lungs, causing a collapsed lung.
Patients with LAM may also develop growths in the kidneys called angiomyolipomas. These are harmless unless they become large, in which case they can cause bleeding.
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Lymphangioleiomyomatosis (LAM) almost exclusively affects women. Women who have the disease are usually diagnosed between the ages of 20 and 40. About 30% of women who have tuberous sclerosis also have LAM.
Lymphangioleiomyomatosis (LAM) results from changes in two genes called TSC1 and TSC2. There is a hereditary form of the disease that occurs in patients who have a disease called tuberous sclerosis.
There is a second form of LAM that is not associated with tuberous sclerosis, called sporadic LAM. People who have sporadic LAM also have genetic mutations, but the gene mutations are not hereditary and cannot be passed on to children. The reason these gene mutations occur is unclear.
The abnormal growth of smooth muscle cells and cysts in the lungs of patients who have lymphangioleiomyomatosis (LAM) can cause the following symptoms:
Because symptoms of lymphangioleiomyomatosis (LAM) are similar to those of asthma or bronchitis, many women who have LAM may not realize it right away, or are given the incorrect diagnosis by doctors who are unfamiliar with the disease. Similarly, the cysts in the lung can be misdiagnosed as emphysema.
LAM is usually treated by a pulmonologist, a doctor who specializes in treating lung diseases. It is important that the doctor be familiar with LAM, and diseases that can mimic LAM, to correctly diagnose and treat the disease. The doctor will examine you and ask about your symptoms. The doctor may also order certain tests, including the following:
There is no cure for lymphangioleiomyomatosis (LAM), but there is now effective treatment to stabilize the disease and prevent it from progressing (getting worse). The drug sirolimus (also known as rapamycin or by the branded name Rapamune® ) is used in patients who show signs that they have lost lung function as a result of LAM. Sirolimus can also be used to shrink large angiomyolipomas of the kidney. In some cases, another medication of the same class, everolimus (Afinitor®, Zortress®), can be used to treat LAM.
Other treatments that may be used in some situations include:
Untreated, lymphangioleiomyomatosis (LAM) can be a progressive disease, which means it can get worse over time. With the use of sirolimus, the hope is that the disease can be stabilized for most patients (though not all patients respond to the drug). In the past, the prognosis for patients with LAM was poor, but this is no longer true. Currently, more than 90% of patients are alive 10 years after their diagnosis.
If you've been diagnosed with LAM see your doctors on a regular basis and try to live a healthy lifestyle. Having LAM may cause anxiety and depression as well, so seek emotional support if needed.
Last reviewed by a Cleveland Clinic medical professional on 01/24/2020.
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