The three main pulmonary lesions found in tuberous sclerosis complex (TSC) are lymphangioleiomyomatosis (LAM), multifocal micronodular pneumocyte hyperplasia, and clear cell tumor of the lung. LAM is the most common. The average age of onset is 32–34 years of age, and lung involvement is essentially, although not exclusively, a manifestation of TSC in women.
The first symptoms of lung involvement in an individual with TSC may be shortness of breath after mild exercise, spontaneous pneumothorax, or coughing. Progression to pulmonary failure may develop, but not usually until the third or fourth decade of life, if at all. Pulmonary involvement in TSC can be severe, and some individuals will require lung transplantation.
Recent studies have shown that many women with TSC have minor, asymptomatic lung involvement. The Consensus Conference Panel on Lung Involvement recommended that female patients should have a chest CT scan (not an x-ray) sometime before age 18 or at the time of diagnosis for women older than 18. A CT scan of the lung is superior to an X-ray because the early signs of lung involvement may easily be missed on an X-ray. If pulmonary involvement is noted, the individual should be monitored closely and should have repeated chest CT scans as needed.
Pulmonary involvement in TSC can be severe, even fatal. Recently, tamoxifen and progesterone have been used to treat pulmonary TSC with encouraging results. Any individual with TSC with lung involvement should see a pulmonologist who is knowledgeable about LAM. The National Institutes of Health is also conducting clinical research of LAM and you may also apply to participate in the study. Call the Tuberous Sclerosis Alliance or the LAM Foundation for more information.