Linfangioleiomiomatosis

Abstract

Lymphangioleiomyomatosis (LAM) is a rare disease that mainly affects women, particularly at fertile age. It is sporadic or associated with tuberous sclerosis complex. It is characterised by an abnormal proliferation of immature smooth muscle cells (SMC), which grow aberrantly in the airway, parenchyma, lymphatics and pulmonary blood vessels and which can gradually lead to respiratory failure. It affects several systems, affecting the lymphatic ganglia and causing abdominal tumours. Given its very low prevalence, a difficult to establish early diagnosis, absence of curative treatment and the difficulty in obtaining information, places LAM under the heading of the so-called Rare Diseases. There is a growing interest in the study of this disease which has led to the setting up of patient registers and an exponential growth in LAM research, both at a clinical level and cellular level.