Causes
An uncommon lung disease, lymphphangioleiomyomatosis (LAM) causes abnormal growth of smooth muscle cells in the lungs, resulting in cysts and progressive lung damage. It is unknown exactly what causes LAM, but it is believed to be caused by mutations in the tuberous sclerosis complex (TSC) genes, TSC1 and TSC2. LAM is caused by mutations that overactivate a cellular pathway involved in cell growth and proliferation.
Symptoms
Lymphangioleiomyomatosis can cause the following symptoms:
-
Especially during exertion, shortness of breath worsens over time.
-
Inflammation of the lungs or rupture of cysts can cause chest pain.
-
Dry cough or minimal sputum production.
-
Breathing whistling sounds.
-
The feeling of being excessively tired or weak.
-
As a result of a ruptured cyst, a lung collapses.
-
Chylous effusions are accumulations of lymphatic fluid in the chest or abdomen.
Diagnosis
Lymphangioleiomyomatosis is diagnosed by:
-
Assessment of symptoms and overall health status based on medical history and physical examination.
-
The pulmonary function test (PFT) measures lung capacity, airflow, and gas exchange.
-
An imaging test used to detect lung cysts and assess the extent of lung involvement with a high-resolution CT scan.
-
The LAM diagnosis is confirmed by microscopic examination of a small tissue sample from the lungs.
-
Testing for mutations in the TSC1 and TSC2 genes associated with LAM.
Treatment
Treatment options for lymphangioleiomyomatosis include managing symptoms and slowing disease progression.
-
LAM can be treated with medications such as sirolimus (rapamycin) or everolimus to slow the growth of lung cysts.
-
Hypoxia (low blood oxygen levels) can be alleviated with oxygen therapy.
-
The pleurodesis procedure involves scarring between the lung and chest wall to prevent recurrent pneumothorax.
-
In individuals with advanced LAM and respiratory failure, lung transplantation involves replacing one or both diseased lungs with healthy donor lungs.
Prevention
There are several prevention strategies for lymphangioleiomyomatosis, including:
-
Tobacco smoke should be avoided by quitting smoking and avoiding secondhand smoke exposure.
-
Monitoring for signs and symptoms of LAM and initiating treatment early if necessary in individuals with known or suspected TSC mutations.
-
Providing information about available testing and preventative measures to individuals with a family history of TSC or LAM.
Conclusion
In lymphphangioleiomyomatosis, smooth muscle cells grow abnormally in the lungs, causing cysts to form and progressive damage to lung tissues. In addition to mutations in the TSC1 and TSC2 genes, it is believed that overactivation of a cellular pathway involved in cell proliferation and growth is responsible for it. Shortness of breath, chest pain, cough, wheezing, fatigue, pneumothorax, and chylous effusions are all symptoms of LAM. In addition to medical history, physical examination, lung function tests, CT scans, biopsy, and genetic testing, treatment options include medications, oxygen therapy, pleurodesis, and lung transplantation. Individuals at risk of TSC mutations should avoid tobacco smoke, receive regular medical examinations, and receive genetic counseling.
