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Combining clinical, radiological and genetic approaches to pneumothorax management.

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.

SUBMITTER: Grimes HL

PROVIDER: S-EPMC8762013 | biostudies-literature | 2022 Feb

REPOSITORIES: biostudies-literature

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Combining clinical, radiological and genetic approaches to pneumothorax management.

Grimes Hannah L HL Holden Simon S Babar Judith J Karia Sumit S Wetscherek Maria Ta MT Barker Allanah A Herre Jurgen J Knolle Martin D MD Maher Eamonn R ER Marciniak Stefan John SJ

Thorax 20210618 2

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 no ...[more]

PMID: 34145047

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