Chest
Volume 121, Issue 1, January 2002, Pages 297-300
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Selected Reports
Hereditary Pulmonary Emphysema

https://doi.org/10.1378/chest.121.1.297Get rights and content

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.(CHEST 2002; 121:297–300)

Section snippets

Family Cases

The study initially consisted of three members of a family, two women and one man, who had experienced FSP even though they had never smoked (Fig 1). One of the female patients had had at least 20 episodes of FSP on the left side and 8 on the right side. The other female FSP patient had had four episodes of FSP on the left side. The female FSP patients had been operated on because of frequent recurrences of FSP. None of the female FSP patients had catamenial SP. The male FSP patient had had one

Laboratory Findings

The serum haptoglobin, orosomucoid, and AAT concentrations were checked in the patients 3 years after the last episode of FSP. The serum haptoglobin and orosomucoid levels were normal in each individual of the studied groups. The serum AAT concentration was within the reference range (reference range, 1.0 to 1.7 g/L) in each person, except a smoker relative whose AAT concentration was 2.0 g/L.

Chest Radiograph

The posteroanterior and lateral chest radiographs revealed nothing pathologic in the pulmonary tissue

Discussion

Relationship of smoking and age to pulmonary emphysema is known.17 The recent detection18 of pulmonary emphysema by CT scanning in 44% of healthy smokers who are approximately 60 years old suggests that emphysema may not be caused only by smoking. Our CT scan study15 of SP patients who had never smoked showed ELCs. To our knowledge, there has been no previous investigation of the pulmonary tissue to determine the occurrence of ELCs and emphysema in unaffected relatives of patients who had never

ACKNOWLEDGMENT

We thank each member of the family anonymously, according to their wish.

References (18)

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