The changing face of a rare disease: lymphangioleiomyomatosis

Abstract

Lymphangioleiomyomatosis is a rare disease characterised by cystic destruction of the lung, lymphatic abnormalities and abdominal tumours. It affects almost exclusively females and can occur sporadically or in patients with tuberous sclerosis complex.In the past decade remarkable progress has been made in understanding of the pathogenesis of this disease leading to a new therapeutic approach. This review summarises recent advances regarding pathogenic mechanisms and clinical manifestations, and highlights the current and the most promising future therapeutic strategies. @ERSpublications Recent advances in pathogenesis, clinical manifestations and therapeutic strategies of lymphangioleiomyomatosis http://ow.ly/Rbmlh

Thoracic involvement in generalised lymphatic anomaly (or lymphangiomatosis)

“…Compared with primary pulmonary lymphangiectasis, a substantial amount of collagen and spindle-shaped cells surround the endothelial-lined lymphatic channels. Haemosiderin-laden macrophages may be present in the adjacent lung parenchyma, which, in contrast to lymphangioleiomyomatosis (LAM), is always preserved with no evidence of cystic changes [19,20].…”

What do we have to know about Cystic Lung Diseases?

“…It is sometimes misdiagnosed as asthma or chronic bronchitis and it can produce chylothorax, and less frequently ascites, pleuropericardial effusion and chyloptisis. It is also possible to see angiomyolipomas, uterine and pancreatic involvement, and multisystemic hamartomas in tuberous sclerosis [5].…”

Genetic studies yield clues to the pathogenesis of Langerhans cell histiocytosis

“…The effectiveness of sirolimus in stabilising lung function, reducing the sizes of angiomyolipomas, and chylous effusions, as well as clearing circulating LAM cells is proof of concept that therapy targeting defective genetic and biochemical pathways can be successful [3,6,[31][32][33]. Targeted therapy is currently used in the management of patients with advanced nonsmall cell lung cancer (NSCLC).…”