Lymphangioleiomyomatosis (LAM) is a rare condition characterized by the abnormal growth of muscle cells particularly in the lungs, kidneys and the lymphatic system. The uncontrolled growth of these cells can affect the normal function of the lungs, the build-up of lymph rich fluid in the chest and the development of tumors in the kidneys. This condition particularly affects women in their prime years of life. It commonly develops among women with a disease called tuberous sclerosis complex. When Lymphangioleiomyomatosis develops on its own, it is known as sporadic LAM.
Causes
It commonly develops as the result of a genetic mutation in the TSC2 gene and TSC1 gene. These genes are responsible for the production of proteins called tuberin and hamartin which assist with the regulation of cell growth and size. These proteins also act as tumor suppressors preventing the abnormal growth of the cells. The genetic mutation results in the nonfunctional proteins which result in the uncontrolled growth and division of the cells. Lymphangioleiomyomatosis is not an inherited condition but develops as the result of a random genetic mutation that occurs in the early development.
Symptoms
Lymphangioleiomyomatosis presents a wide range of symptoms and can be suspected among the young female particularly if they have shortness of breath with exercise, cough and bloody phlegm. This is commonly detected among individuals who present the pneumothorax or lung collapse. The pneumothorax is the accumulation of air between the outside of the lung and the inside of the chest wall. A large pneumothorax can actually cause the lungs to collapse. Pneumothorax causes mild to severe forms of associated symptoms such as sharp pain in the chest and shortness of breath.
Diagnosis
As this disease presents itself in a wide variety of ways, it is often difficult to diagnose. Also, the symptoms appear to be similar to other forms of lung problems such as asthma and bronchitis. The diagnosis is possible with the high-resolution chest CT scans that present the cystic structures along with the other abnormalities such as fluid in the lungs and the presence of benign kidney tumor. Additional tests include vascular endothelial growth factor-D which can be elevated among these cases. The breathing tests can assess the effectiveness of the lung function. Depending on the cases, an open-lung biopsy or bronchoscopy may be required to observe the lung tissue.
Treatment
There is no treatment available to stop the cysts from growing. As there is no cure, the condition can progressively deteriorate and when the lungs become replaced with cysts, the lung transplant is the only treatment option available. Although the affected individual can continue a normal life in the initial stage of the disease, it will become harder later. Most of the treatment for Lymphangioleiomyomatosis include providing relief from the symptoms and preventing complications. Some of the treatment options consist of oxygen therapy, treatment of osteoporosis, pulmonary rehabilitation, removing the air or fluid around the lungs to assist with breathing and bronchodilators that help open the airways for better breathing.
References
https://www.thelamfoundation.org/Newly-Diagnosed/Learning-About-Lam/About-LAM
https://ghr.nlm.nih.gov/condition/lymphangioleiomyomatosis#inheritance
https://www.blf.org.uk/support-for-you/lymphangioleiomyomatosis-lam
