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Semin Respir Crit Care Med 2020; 41(02): 256-268
DOI: 10.1055/s-0040-1702195
Review Article
Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

Lymphangioleiomyomatosis

Kai-Feng Xu
1   Department of Pulmonary and Critical Care Medicine, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Peking Union Medical College, Beijing, People's Republic of China
2   Rare Diseases Research Center, Chinese Academy of Medical Sciences, Beijing, People's Republic of China
,
Wenshuai Xu
1   Department of Pulmonary and Critical Care Medicine, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Peking Union Medical College, Beijing, People's Republic of China
,
Song Liu
2   Rare Diseases Research Center, Chinese Academy of Medical Sciences, Beijing, People's Republic of China
3   Central Laboratory, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Peking Union Medical College, Beijing, People's Republic of China
,
Jane Yu
4   Division of Pulmonary, Critical Care, and Sleep Medicine, Department of Internal Medicine, University of Cincinnati College of Medicine, Cincinnati, Ohio
,
Xinlun Tian
1   Department of Pulmonary and Critical Care Medicine, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Peking Union Medical College, Beijing, People's Republic of China
,
Yanli Yang
1   Department of Pulmonary and Critical Care Medicine, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Peking Union Medical College, Beijing, People's Republic of China
2   Rare Diseases Research Center, Chinese Academy of Medical Sciences, Beijing, People's Republic of China
,
Shao-Ting Wang
1   Department of Pulmonary and Critical Care Medicine, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Peking Union Medical College, Beijing, People's Republic of China
2   Rare Diseases Research Center, Chinese Academy of Medical Sciences, Beijing, People's Republic of China
,
Weihong Zhang
5   Department of Radiology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Peking Union Medical College, Beijing, People's Republic of China
,
Ruie Feng
6   Department of Pathology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Peking Union Medical College, Beijing, People's Republic of China
,
Tengyue Zhang
1   Department of Pulmonary and Critical Care Medicine, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Peking Union Medical College, Beijing, People's Republic of China
› Author Affiliations
Funding This work was supported by the National Nature Science Foundation of China (81570061), the National Key Research and Development Program of China (2016YFC0901502), and Chinese Academy of Medical Sciences (CAMS) Initiative for Innovative Medicine (2017–12M-2–001).
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Publication History

Publication Date:
12 April 2020 (online)

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Abstract

Lymphangioleiomyomatosis (LAM) is a slow albeit progressive rare neoplastic disease featured with diffuse thin-walled cysts in lungs and angiomyolipomas in kidneys. LAM affects almost exclusively women and has one of the strongest gender predispositions of any extragenital human disease. Two forms of LAM present clinically, sporadic (S-LAM) and tuberous sclerosis complex-associated (TSC-LAM). TSC is an autosomal dominant genetic multisystems neoplastic disease. A high prevalence of LAM can be detected in adult female TSC patients. Tremendous progress has been made in our understanding and management of this rare disease. Both LAM and TSC are TSC2 or TSC1 mutated diseases that result in overactivation of the mechanistic target of rapamycin (mTOR) pathway. Sirolimus, an mTOR inhibitor, has been approved for LAM treatment in the United States and many other countries. Therapies targeting female sex hormones have shown preclinical efficacy in animal and cell culture-based experiments, but have not been properly investigated clinically. In this review, we summarize current recommendations in the diagnosis and treatment of LAM.

Keywords

lymphangioleiomyomatosis - tuberous sclerosis complex - diffuse cystic lung disease - vascular endothelial growth factor-D - sirolimus - estrogen - pneumothorax - chylothorax - angiomyolipoma