Lymphangioleiomyomatosis

Lymphangioleiomyomatosis (LAM ) is a rare lung disorder that occurs almost exclusively in women. It is usually progressively leads to chronic oxygen deficiency and is ultimately life-threatening.

The disease comes in two different forms: as a so-called sporadic LAM, which can not be inherited, and the other as LAM that occurs in connection with the disease tuberous sclerosis and is heritable. The first signs of the disease, such as shortness of breath with exertion or coughing and chest pain, usually occur already 25 to 30 years of age. Because LAM is rare and usually begins insidiously, the symptoms often go without proper diagnosis or be misdiagnosed as asthma or emphysema. The definitive diagnosis is possible by means of computer or by a lung biopsy. The CT - radiological findings is typical and allows a rule the diagnosis. It is estimated that there are approximately 200 patients with LAM in Germany.

To date, the cause of LAM is not fully understood. It is assumed that a genetic disorder that leads to dangerous changes in the lungs and kidneys. In the lungs destroyed an uncontrolled growth of the so-called smooth muscle cells increasing the healthy lung tissue, thus limiting the oxygen intake of the body increasingly. These adhesions are surgically partially removable. This increases the quality of life, however, the cysts have recurrence.

The macroscopic findings similar to a severe emphysema with widened alveolar septa. This breathing for patients with LAM is getting heavier and they are physically not very reliable. LAM caused in a proportion of those affected also angiomyolipomas of the kidneys or fibrotic tissue changes in the abdominal cavity, and enlarged lymph nodes. In half of all concerned occurs in the course of the disease to severe symptoms such as pneumothorax (collapse of the lung), and in approximately 15% of women for chylothorax (accumulation of lymphatic fluid in the pleural cavity ).

The previously standard therapy with medroxyprogesterone seems to work conditionally only in a subset of patients. In the MILES study could be shown in 2011 that the drug sirolimus ( rapamycin) stabilized lung function, reduces symptoms and improves quality of life. After discontinuation of the drug to the lung function, however, continued to deteriorate. Many patients and doctors are seeing in the advanced stage of the disease as the only chance of lung transplantation, however, is only for younger patients in good general condition in question. The prognosis after lung transplantation is good. Recurrences are not described.

So far, the disease was clearly demonstrated only in two male patients.