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Familial spontaneous pneumothorax

MONDO:0008259

Familial spontaneous pneumothorax is a rare, genetic pulmonary disease characterized by the uni- or bilateral accumulation of air in the pleural cavity in persons with a positive family history and no underlying lung disease or previous chest trauma. Patients typically present dyspnea associated with acute onset of sharp and steady pleutiric chest pain of variable severity (which resolves within 24h even though pneumothorax is still present). Reflex tachycardia and/or respiratory or circulatory compromise may be observed. Other syndromes (e.g. Birt-Hogg-Dube, Marfan or Ehlers-Danlos syndromes) may be associated.

Also known as: Psp, pneumothorax, primary spontaneous, primary spontaneous pneumothorax, spontaneous pneumothorax

21 clinical trials for this condition and its sub-types.

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Broader categories

Disease (618) Hereditary disease (172) Respiratory system disorder (127) Pneumothorax (34) Lower respiratory tract disorder (16) Human disease (14) Pleural disorder (13) Disease of genetic or genomic mechanism (2) Disease by body system or component (0) Disease by etiologic mechanism (0)
Trials to join now! 4 Not yet recruiting 8 Not yet finished but already full! 5 Completed 4
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