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All about lymphangioleiomyomatosis (LAM) causes of lymphangioleiomyomatosis symptoms of lymphangioleiomyomatosis diagnosis of lymphangioleiomyomatosis treatment for lymphangioleiomyomatosis

What causes lymphangioleiomyomatosis (LAM)?

Lymphangioleiomyomatosis can occur in association with tuberous sclerosis due to mutations in the tuberous sclerosis complex (TSC) genes TSC1 or TSC2 genes. Sporadic (isolated) caes of LAM typically result from 2 somatic mutations in the TSC2 gene, although a fraction of sporadic LAM is caused by germline mutations in the TSC1 gene. Smooth-muscle proliferation may obstruct bronchioles, possibly leading to airflow obstruction, air trapping, formation of bullae, and pneumothoraces. Obstruction of lymphatics may result in chylothorax and chylous ascites. Obstruction of venules may result in hemosiderosis and hemoptysis. Excessive proteolytic activity, which relates to an imbalance of the elastase/alpha1-antitrypsin system or metalloprotease and their inhibitors (tissue inhibitors of metalloproteases) may be important in lung destruction and formation of cystlike lesions.

 

More information on lymphangioleiomyomatosis (LAM)

What is lymphangioleiomyomatosis (LAM)? - Lymphangioleiomyomatosis is a rare disorder of unknown etiology characterized by an unusual type of muscle cell that invades the tissues of the lungs.
What causes lymphangioleiomyomatosis? - Lymphangioleiomyomatosis can occur in association with tuberous sclerosis due to mutations in the tuberous sclerosis complex (TSC) genes.
What're the symptoms of lymphangioleiomyomatosis? - Symptoms of lymphangioleiomyomatosis may include shortness of breath, difficulty breathing and coughing.
How is lymphangioleiomyomatosis diagnosed? - The diagnosis of lymphangioleiomyomatosis can be difficult because the early symptoms are similar to those of other lung diseases.
What's the treatment for lymphangioleiomyomatosis? - Therapeutic treatments for lymphangioleiomyomatosis have focused on reducing the production or effects of estrogen.
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