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.
Therapeutic Advances in Respiratory Disease
|March 29, 2026
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.
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.
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