Lymphangioleiomyomatosis – case series

Abstract

Abstract We describe a series of five cases of sporadic lymphangioleiomyomatosis (LAM) diagnosed in a 2-year period and followed for at least 6 months. All cases describe women aged between 37 years and 67 years (median at 44), mostly non-smokers, either with symptomatic presentations, complications at debut or incidental imagistic diagnosis. The cystic lesions were unanimous, but two cases had atypical patterns. Spirometric parameters were normal in two cases, the rest presenting obstruction with hyperinflation ± bronchodilator positive response. The diffusing capacity of lung for carbon monoxide (DLCO) varied between 79.8% and 29.5%. Two cases had histopathological confirmation, one of which was really unexpected considering its imagistic pattern. The therapeutic intervention consisted of sirolimus and/or bronchodilator. The evolution was stationary for four cases and unfavourable for one. This case series ranges from textbook to atypical LAM and has the aim to raise awareness regarding this rare disease.