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Spontaneous pneumothorax-associated with genetic disorders.

Xianmeng Chen1, Jay H Ryu2, Xiaowen Hu3

  • 1Department of Pulmonary and Critical Care Medicine, the First Affiliated Hospital of USTC, Division of Life Sciences and Medicine, University of Science and Technology of China, Hefei, China.

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PubMed
Summary

Genetic factors contribute to spontaneous pneumothorax (SP). This review summarizes genetic syndromes associated with SP, aiding in diagnosis and management of this lung condition.

Keywords:
Birt-Hogg-Dubé syndromeLoeys-Dietz syndromeMarfan syndromeSpontaneous pneumothoraxalpha-1 antitrypsin deficiencylymphangioleiomyomatosistuberous sclerosis complexvascular Ehlers-Danlos syndrome

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Area of Science:

  • Pulmonology
  • Genetics
  • Internal Medicine

Background:

  • Spontaneous pneumothorax (SP) is air in the pleural space without trauma or iatrogenic cause.
  • Familial clustering suggests genetic factors in SP pathogenesis.
  • SP can be secondary to various underlying conditions.

Purpose of the Study:

  • To systematically review genetic syndromes associated with pneumothorax.
  • To highlight the role of genetic factors in SP.
  • To aid in the recognition and management of SP secondary to genetic conditions.

Main Methods:

  • Systematic review of literature.
  • Summary of genetic syndromes linked to pneumothorax.
  • Analysis of SP as a presenting symptom or complication in genetic syndromes.

Main Results:

  • Several genetic syndromes are associated with SP, including Birt-Hogg-Dubé syndrome (BHD), tuberous sclerosis complex-associated lymphangioleiomyomatosis (TSC-LAM), Marfan syndrome (MFS), cystic fibrosis (CF), alpha-1 antitrypsin deficiency (AATD), vascular Ehlers-Danlos syndrome (vEDS), and Loeys-Dietz syndrome (LDS).
  • SP can be an initial symptom or a complication in these syndromes.
  • Recognition of these syndromes is crucial for patient management.

Conclusions:

  • Genetic syndromes are important underlying causes of spontaneous pneumothorax.
  • Identifying these syndromes improves prognosis and management.
  • This review provides a comprehensive overview for clinicians.