Milestones in lymphangioleiomyomatosis research.

L ymphangioleiomyomatosis (LAM), a slowly progressive disease affecting mostly young and middle-aged females [1], is one of the few orphan lung diseases that has attracted major attention in recent years from both clinicians and researchers [2], with rapidly evolving progress. With an estimated prevalence of one in 400,000 adult females aged 20–69 yrs for the sporadic form [3] and ,30% of patients with tuberous sclerosis complex [4] (tuberous sclerosis complex itself has a prevalence of one in 5,800 live births [5]), LAM is indeed a rare disease according to the European definition (prevalence was less than one out of 2,000 persons). However, similar to what has been witnessed for idiopathic pulmonary hypertension some years ago, the organisation and care of LAM patients has improved considerably. Reference centres have been established in many countries for the care of patients suffering from rare diseases, either for rare pulmonary diseases as a whole including LAM, or specifically for LAM (LAM clinics). One initiative funded by the 7th Framework Programme of the European Commission is in the progression to establish European networks of centres of expertise (coordinator: T.O.F. Wagner, Frankfurt, Germany; LAM coordinator: S.J. Johnson, Nottingham, UK). Furthermore, basic and translational research has made tremendous progress, and some medical therapy may be envisioned in the near future. Hence the hope is forming that LAM may no longer be orphan in the coming years; the sooner the better.