Lymphangioleiomyomatosis (LAM) is a disorder that causes abnormal accumulations of cells as well as cysts, which are fluid-filled structures, in the lungs. LAM is caused by mutations in the TSC1 and TSC2 genes, which are involved in making proteins that help regulate the growth of certain cells. LAM cells are abnormal smooth muscle cells that grow and can block airways, blood vessels, and lymph vessels. In the lungs, these accumulations can block oxygen exchange to the blood, resulting in poor oxygen delivery to tissues. In addition to cyst development in the lungs, those affected by LAM often have kidney tumors that are benign or non-cancerous.
LAM almost always affects women. Symptoms usually begin around childbearing age. The overall average age of diagnosis is 48. LAM is a progressive disorder but develops at a various rates among different individuals. Symptoms include breathlessness and coughing up blood. A collapsed lung is often the first symptom women notice. LAM can be diagnosed by imaging of the lungs.
While there is currently no cure for LAM, there are treatment options to help manage the symptoms and prevent any complications. Treatments include drugs, oxygen treatment, removal of fluid from lungs, and lung transplant. If you have been diagnosed with LAM, talk to your doctor about the most current treatment options. In addition, a genetic counselor can help discuss inheritance and risks to other family members. Support groups are available for more resources and information.