Combining clinical, radiological and genetic approaches to pneumothorax management. Issue 2 (18th June 2021)

• Record Type: Journal Article
• Authors: Grimes, Hannah L; Holden, Simon; Babar, Judith; Karia, Sumit; Wetscherek, Maria TA; Barker, Allanah; Herre, Jurgen; Knolle, Martin D; Maher, Eamonn R; Marciniak, Stefan John
• Is Part Of: Thorax. Volume 77:Issue 2(2022)
• Page Start: 196
• Page End: 198
• Publication Date: 2021-06-18
• Subjects: pleural disease; Chest -- Diseases -- Periodicals; Thorax; Chest -- Diseases; Periodicals; Periodicals; 617.54
• DOI: 10.1136/thoraxjnl-2021-217210
• Languages: English
• ISSNs: 0040-6376

Abstract

Abstract : Familial spontaneous pneumothorax (FSP) accounts for 10% of primary spontaneous pneumothoraces. Appropriate investigation of FSP enables early diagnosis of serious monogenic diseases and the practice of precision medicine. Here, we show that a pneumothorax genetics multidisciplinary team (MDT) can efficiently diagnose a range of syndromic causes of FSP. A sizeable group (73.6%) of clinically unclassifiable FSPs remains. Using whole genome sequencing we demonstrate that most of these cases are not known monogenic disorders. Therefore, clinico-radiological assessment by an MDT has high sensitivity for currently known clinically important monogenic causes of FSP, which has relevance for the design of efficient pneumothorax services.