Familial spontaneous pneumothorax

Familial spontaneous pneumothorax (FSP) is a rare inherited condition characterized by the recurrent collapse of the lung (pneumothorax) without an obvious external cause, occurring in two or more members of the same family. A pneumothorax happens when air leaks into the space between the lung and the chest wall (pleural space), causing the lung to partially or fully collapse. Patients typically experience sudden onset of sharp chest pain, shortness of breath (dyspnea), and sometimes a dry cough. The condition predominantly affects the respiratory system and tends to occur in tall, thin individuals, often young adults. Familial spontaneous pneumothorax can occur as an isolated familial trait or as part of broader genetic syndromes. Notably, it is a well-recognized feature of Birt-Hogg-Dubé syndrome (caused by mutations in the FLCN gene), Marfan syndrome (FBN1 gene mutations), vascular Ehlers-Danlos syndrome (COL3A1 mutations), and homocystinuria. When occurring as an isolated familial condition, the genetic basis may involve variations in connective tissue or lung parenchymal structure that predispose to the formation and rupture of subpleural blebs or bullae. Some cases have been linked to mutations in the FLCN gene even without other features of Birt-Hogg-Dubé syndrome. Treatment follows the same principles as for sporadic spontaneous pneumothorax. A small, stable pneumothorax may be managed conservatively with observation and supplemental oxygen. Larger or symptomatic pneumothoraces typically require needle aspiration or chest tube insertion to remove the trapped air and allow the lung to re-expand. For recurrent episodes, surgical intervention such as video-assisted thoracoscopic surgery (VATS) with pleurodesis (a procedure to adhere the lung to the chest wall) or bullectomy may be recommended to prevent further recurrences. Genetic counseling is advised for affected families, and screening for underlying syndromic causes should be considered in all patients presenting with familial pneumothorax.

Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.

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