Johnson Simon R, Tattersfield Anne E
Division of Therapeutics, University Hospital, Queens Medical Centre, Nottingham, UK.
Semin Respir Crit Care Med. 2002 Apr;23(2):85-92. doi: 10.1055/s-2002-25298.
Lymphangioleiomyomatosis (LAM) is a rare disease categorized by an overgrowth of atypical smooth muscle cells (LAM cells) in the lungs and axial lymphatics, which is associated with the mesenchymal tumor angiomyolipoma. The disease occurs in women generally in their mid thirties with a prevalence approximately 1 per million in the general population but is much more frequent in women with tuberous sclerosis complex (TSC). LAM is categorized by airflow obstruction, lung cysts, recurrent pneumothorax, and pleural and abdominal chylous collections. The disease is progressive, generally resulting in respiratory failure and death. The TSC-2 gene is abnormal in LAM cells and may be responsible for their disordered growth. These cells are of an unusual phenotype, expressing smooth muscle proteins, melanoma proteins, estrogen and progesterone receptors. Although at present of unknown significance these are useful in diagnosis. Treatment is largely supportive, being directed at airflow obstruction, pneumothorax, chylous complications, and bleeding from angiomyolipomas. In patients with rapidly progressive disease, hormone manipulation is frequently tried in the form of progesterone or antiestrogen therapies although no firm evidence of their efficacy exists.
淋巴管平滑肌瘤病(LAM)是一种罕见疾病,其特征为肺部和纵隔淋巴管内非典型平滑肌细胞(LAM细胞)过度增生,与间叶性肿瘤血管平滑肌脂肪瘤相关。该疾病通常发生于35岁左右的女性,普通人群中的患病率约为百万分之一,但在结节性硬化症(TSC)女性患者中更为常见。LAM的特征包括气流阻塞、肺囊肿、复发性气胸以及胸膜和腹部乳糜积液。该疾病呈进行性发展,通常导致呼吸衰竭和死亡。TSC-2基因在LAM细胞中异常,可能是其生长紊乱的原因。这些细胞具有异常表型,表达平滑肌蛋白、黑色素瘤蛋白、雌激素和孕激素受体。尽管目前其意义尚不清楚,但这些有助于诊断。治疗主要是支持性的,针对气流阻塞、气胸、乳糜并发症以及血管平滑肌脂肪瘤出血。对于疾病快速进展的患者,常尝试采用孕激素或抗雌激素疗法进行激素调控,尽管尚无确凿证据证明其疗效。