Tuberous sclerosis is a rare genetic condition that causes rapid reproduction of cells. Tuberous sclerosis is often linked to a disorder called lymphangioleiomyomatosis, which is characterized by the development of cysts and growths in the lungs, kidneys, and other body parts. When these conditions occur together, it’s known as TSC-LAM.
Medical researchers aren’t sure what causes this genetic disorder, but they believe it may be triggered by oestrogen, as TSC-LAM almost always affects women and most diagnoses occur in women between the ages of 20 and 40.
With TSC-LAM, two types of tumour suppressor genes (TSC1 and TSC2) undergo mutations, which lead to an overgrowth of cells. Some people inherit the defective gene from their parents, while it occurs spontaneously in others.
People with TSC-LAM typically experience the following symptoms:
These symptoms can indicate other serious lung disorders, so they must be assessed immediately. Timely diagnosis can also reduce your chances of developing complications like collapsed lungs, lymph system obstructions, and fluid accumulation around the lungs.
Doctors can use therapies and treatments to manage breathing issues caused by TSC-LAM. Inhaled medications, oxygen therapy, and pulmonary rehab (which helps fortify the muscles used for breathing and educates patients on coping with breathing limitations) can improve lung function in people with this condition.
Doctors can also prescribe a medication that reduces the effects of TSC-LAM and stops the disease from progressing. Sirolimus is an oral medication commonly used to prevent organ transplants from being rejected by dampening the immune system’s response. Along with improving function of the lungs, sirolimus can reduce the presence of growths in the kidneys, as well as lessening other symptoms.
TSC-LAM treatments can slow disease progression and ease symptoms, but they cannot repair badly damaged lung tissues. When damage is severe, your doctor may recommend a lung transplant. This is a major surgery that is accompanied by many risks, but it can vastly improve one’s quality of life when breathing is severely restricted.