Individuals with TSC are at a higher risk of developing lymphangioleiomyomatosis (LAM). LAM is a rare lung disease that affects women more often than men, usually between the onset of puberty and menopause. It can cause shortness of breath or other complications. Treatments for LAM can include medication (Rapamune®, sirolumus), oxygen therapy or lung transplantation in very advanced diseases. Ongoing screening and management are recommended throughout the lifespan. You or your loved one can continue to consciousness choices such as, smoke cessation, minimize occupational exposures and avoid routine use of exogenous estrogen (birth control) or doxycycline for the treatment of LAM. Diagnostics testing and imaging should be utilized every 1 – 3 years or more frequent pending your unique situation. Proactively understanding symptoms that you should report to your clinical team would include connective tissues disease symptoms, chyle leak, dyspnea, cough, or experiencing spontaneous pneumothorax. Should you or your loved one have these symptoms and are not explained by other factors, you should notify your TSC specialist for further recommendations.
The LAM Foundation has excellent resources and support for those looking for additional information on LAM.