Servicio de Neumología, Hospital Universitario La Fe, Valencia, Spain.
Arch Bronconeumol. 2011 Feb;47(2):85-93. doi: 10.1016/j.arbres.2010.08.008. Epub 2011 Jan 20.
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.
淋巴管平滑肌瘤病(LAM)是一种罕见疾病,主要影响女性,尤其是生育年龄的女性。它是散发性的或与结节性硬化症复合体相关的。其特征是不成熟的平滑肌细胞(SMC)异常增殖,这些细胞在气道、实质、淋巴管和肺血管中异常生长,并逐渐导致呼吸衰竭。它影响多个系统,累及淋巴结并导致腹部肿瘤。由于其极低的患病率、难以早期确诊、缺乏治愈性治疗以及难以获取信息,LAM 被归类为所谓的罕见疾病。人们对这种疾病的研究兴趣日益浓厚,这导致了患者登记册的建立,以及 LAM 在临床和细胞水平研究的指数级增长。