Familial pneumothorax: towards precision medicine

Thorax. 2018 Mar;73(3):270-276. doi: 10.1136/thoraxjnl-2017-211169. Epub 2017 Dec 28.

Abstract

One in 10 patients suffering from primary spontaneous pneumothoraces has a family history of the disorder. Such familial pneumothoraces can occur in isolation, but can also be the presentation of serious genetic disorders with life-threatening vascular or cancerous complications. As the pneumothorax frequently precedes the more dangerous complications by many years, it provides an opportunity to intervene in a focused manner, permitting the practice of precision medicine. In this review, we will discuss the clinical manifestations and underlying biology of the genetic causes of familial pneumothorax.

Keywords: pleural disease.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Female
  • Humans
  • Male
  • Mutation
  • Pneumothorax / diagnosis*
  • Pneumothorax / genetics
  • Precision Medicine / methods*