High frequency of pulmonary lymphangioleiomyomatosis in women with tuberous sclerosis complex

Objective: To determine the frequency of pulmonary lymphangioleiomyomatosis (LAM), a rare cystic lung disorder that occurs almost exclusively in women of reproductive age, in women with tuberous sclerosis complex (TSC), an in heritable multiorgan hamartomatosis, Patients and Methods: In this retrospective cohort study, the medical recor ds of 78 women with definite TSC were reviewed, and pertinent information w as recorded, including the demographic data, clinical manifestations, resul ts of lung biopsies and autopsies, and findings on imaging studies of the c hest and abdomen. All available computed tomographic (CT) scans of the ches t and abdomen were reviewed. Results: Of 78 women with definite TSC seen from 1977 to 1998, 20 (26%) had evidence of LAM. Surgical lung biopsy or autopsy in 7 patients confirmed t he diagnosis of their lung disease. Characteristic CT findings of LAM were noted in 13 additional patients. Twelve of these 20 patients with TSC-assoc iated LAM had respiratory symptoms, including exertional shortness of breat h and spontaneous pneumothorax, that eventually led to their pulmonary diag nosis. Conclusions: The frequency of Lung involvement (LAM) in women with TSC is s ubstantially higher than previously suspected and may be even higher than r eported in this retrospective study. These findings support the recommendat ion for a screening CT of the chest for all women with TSC.