familial spontaneous pneumothorax
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.
MONDO:0002076
pneumothorax
is_a
MONDO:0003847
hereditary disease
is_a
primary spontaneous pneumothorax
related
spontaneous pneumothorax
related
SPBC24C6.08c