Recent advances in the management of lymphangioleiomyomatosis [version 1; referees: 4 approved]

Jay H Ryu, Kai Feng Xu, Xinlun Tian

Research output: Contribution to journalReview article

Abstract

Lymphangioleiomyomatosis is a rare disorder that predominantly affects women and is characterized by progressive cystic changes in the lung, leading to gradually worsening shortness of breath and lung function impairment. Pleural complications such as pneumothorax and chylothorax commonly occur in these patients. Lymphangioleiomyomatosis can occur as a form of lung involvement in tuberous sclerosis complex or as a sporadic form (without tuberous sclerosis complex). Etiology in both forms of this disease centers on mutations in the tuberous sclerosis genes. Advances in our understanding of the regulatory role of tuberous sclerosis gene products (hamartin/tuberin) in the mechanistic target of rapamycin (mTOR) signaling pathway have led to the identification of effective therapy (mTOR inhibitors) for a rare disorder, once considered uniformly fatal. Here, we summarize the evolution of current concepts regarding lymphangioleiomyomatosis with an emphasis on recent advances and unresolved issues.

Original languageEnglish (US)
Article number758
JournalF1000Research
Volume7
DOIs
StatePublished - Jan 1 2018

Keywords

  • Angiomyolipoma
  • Chylothorax
  • Lung transplantation
  • Lymphangioleiomyomatosis
  • Pneumothorax
  • Pulmonary rehabilitation
  • Rapamycin
  • Sirolimus
  • Tuberous sclerosis complex

ASJC Scopus subject areas

  • Biochemistry, Genetics and Molecular Biology(all)
  • Immunology and Microbiology(all)
  • Pharmacology, Toxicology and Pharmaceutics(all)

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