Familial pneumothorax: towards precision medicine. Issue 3 (28th December 2017)

• Record Type: Journal Article
• Authors: Scott, Rachel M; Henske, Elizabeth P; Raby, Benjamin; Boone, Philip M; Rusk, Rosemary A; Marciniak, Stefan J
• Is Part Of: Thorax. Volume 73:Issue 3(2018)
• Page Start: 270
• Page End: 276
• Publication Date: 2017-12-28
• Subjects: pleural disease; Chest -- Diseases -- Periodicals; Thorax; Chest -- Diseases; Periodicals; Periodicals; 617.54
• DOI: 10.1136/thoraxjnl-2017-211169
• Languages: English
• ISSNs: 0040-6376

Abstract

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.