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Familial pneumothorax: towards precision medicine
  1. Rachel M Scott1,
  2. Elizabeth P Henske2,
  3. Benjamin Raby3,
  4. Philip M Boone4,
  5. Rosemary A Rusk5,
  6. Stefan J Marciniak1,6
  1. 1 Wellcome Trust/MRC Cambridge Institute for Medical Research (CIMR), University of Cambridge, Cambridge, UK
  2. 2 Division of Pulmonary and Critical Care Medicine, Brigham and Women’s Hospital, Harvard Medical School, Boston, Massachusetts, USA
  3. 3 Channing Division of Network Medicine, Division of Pulmonary and Critical Care Medicine, Pulmonary Genetics Center, Brigham and Women’s Hospital, Harvard Medical School, Boston, Massachusetts, USA
  4. 4 Harvard Genetics Training Program, Boston, Massachusetts, USA
  5. 5 Department of Cardiology, Papworth Hospital, Cambridge, UK
  6. 6 Division of Respiratory Medicine, Addenbrooke’s Hospital, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK
  1. Correspondence to Prof Stefan J Marciniak, Cambridge Institute for Medical Research (CIMR), University of Cambridge, Cambridge CB2 0XY, UK; sjm20{at}cam.ac.uk

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.

  • pleural disease

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Footnotes

  • Contributors SJM and RMS were responsible for conception and overall design of the review. All authors contributed substantially to drafting the article.

  • Funding The work was supported by funds from the British Lung Foundation, Medical Research Council, and Addenbrooke’s and Papworth hospitals, and from funds from the Precision Medicine Initiative, Department of Pathology, Brigham and Women’s Hospital, Boston.

  • Competing interests None declared.

  • Provenance and peer review Not commissioned; externally peer reviewed.

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