Abstract
Pulmonary lymphangioleiomyomatosis (LAM) is a rare disease characterized by proliferation of abnormal TSC1/2-mutated smooth muscle cells in the lung parenchyma, leading to progressive cystic destruction, lung function decline, and respiratory insufficiency. LAM may be either sporadic (S-LAM) or associated with the tuberous sclerosis complex (TSC-LAM). Cross-sectional studies have suggested that TSC-LAM is less severe than S-LAM, but no longitudinal data are available. We retrospectively compared the rate of FEV1 decline in 16 patients with TSC-LAM and 53 patients with S-LAM diagnosed according to ERS 2010 criteria with a lung function follow-up ≥1 year. Results are shown below.
Conclusion: Although diagnosed at an earlier age than S-LAM, patients with TSC-LAM had similar mean FEV1 at diagnosis, and similar mean rate of FEV1 decline. Lung function follow-up similar to S-LAM may be recommended in TSC-LAM.
- © 2012 ERS