Introduction: Lymphangioleiomyomatosis (LAM) is a rare systemic neoplasm causing diffuse cystic lung disease. Patients with LAM are best managed in specialized centers where respiratory physicians, radiologists and pathologists have expertise in the diagnosis and management of diffuse cystic lung diseases. We describe the natural history and outcomes of LAM patients attending the European Reference Network (ERN) rare lung disease clinic (RLDC) at St Vincent?s University Hospital. 

Methods: Data on all LAM patients were collated. Referral source, patient demographics, history of associated tuberous sclerosis (TSC), treatment history, referral for transplant, progression of disease and mortality were reviewed.

Results: 42 patients with LAM were included. 31% (n=13) were referred from within our hospital group and 69% (n=29) from other sites. Mean age was 52 years (SD+/-13.4 years) and 48% (n=20) were post-menopausal. Mean FEV1 & DLCO at initial presentation were 84.8% (SD+/- 27.9%) and 71.2% (SD+/-22.5) respectively. Mean VEGF-D was 575pg/ml (SD+/- 552.3) and 17% (n=7) had a level over 600pg/ml. 24% received treatment with mTOR inhibitors. 14% (n=6) patients are on long-term oxygen therapy. One patient underwent lung transplantation for LAM. 12% (n=5) have been assessed for suitability for transplant. Five percent of patients have died, one patient from end stage respiratory failure and one from other causes.

Conclusion: The prevalence of LAM is underestimated, and our data reveal a prevalence 17 cases/million women. Menopausal status, lung function at initial presentation and mean VEGF-D are prognostic indicators and require validation in this group.