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To further elucidate the etiology of spontaneous pneumothorax (SP), a study was made of three nonsmoking patients who had experienced several episodes of chest radiograph-verified familial SP (FSP) and 11 unaffected relatives, 5 of whom were smokers and 6 of whom were never-smokers. Fourteen healthy subjects without SP served as a control group. All three groups underwent the same clinical, laboratory, and radiologic examinations, including CT scans of the lungs, with the aim of detecting any changes in the pulmonary parenchyma. Emphysema-like changes (ELCs) were detected on CT scans in each of the three patients with FSP. The unaffected relatives of the FSP patients showed no sign of FSP, but four of the six never-smokers and three of the five relatives who were smokers displayed pulmonary emphysema and ELCs on CT scans. No abnormalities were seen on pulmonary CT scans of the 14 control subjects. The present results indicate that ELCs and pulmonary emphysema may be genetically determined.

In spite of the growing efforts oriented towards revealing different aspects of emphysema, the persistence of the emphysematous or emphysema-like changes (ELCs) is not explored yet in the open literature. In this study we demonstrate the persistence of an ELC for 22 years in a spontaneous pneumothorax (SP) patient which indicates a hitherto unknown gas supply to the ELC. For this purpose we used high resolution computed tomography (HRCT) images processed into three-dimensional (3D) geometry. By the same token, not only a long persistence but also the volume increase of this ELC between 2002 and 2010 was demonstrated. The 3D geometry visualized an aerated interstitial structure between the sites of supposed gas leakage at the wall of the third generation airways and the ELC. This potential gas conducting interstitial pathway is not a continuation and has neither the form nor the structure of a bronchus. The finding suggests that in this patient the intrabronchial gas passes through the bronchial wall and via a gas conducting interstitial pathway reaches the ELC. Despite the availability of the presently employed techniques for at least 15 years, such case and phenomenon have not been described previously. The retrieval of the patient suggests that the findings could be relevant for a considerable proportion of the population. [ABSTRACT FROM AUTHOR]