Lymphangioleiomyomatosis

Abstract

Lymphangioleiomyomatosis (LAM) is a rare disease that mainly affects women, particularly those of fertile age. Its presentation is sporadic or associated with tuberous sclerosis complex. It is characterized by an abnormal proliferation of immature smooth muscle cells (LAM cells), which grow aberrantly in the airway, parenchyma, lymph nodes and pulmonary blood vessels and can gradually lead to respiratory failure. It affects several systems, affecting the lymphatic ganglia and causing abdominal tumors. Given its very low prevalence, difficulty in establishing early diagnosis, absence of curative treatment and the difficulty in obtaining information, LAM is placed 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 creation of patient registers and an exponential growth in LAM research, both at a clinical and cellular level.