Chest
Selected ReportsHereditary Pulmonary Emphysema
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)
- et al.
Familial spontaneous pneumothorax
Chest
(1980) - et al.
Non-smoking, non-alpha 1 antitrypsin deficiency-induced emphysema in nonsmokers with healed spontaneous pneumothorax, identified by computed tomography of the lungs
Chest
(1993) - et al.
Emphysema-like changes may be “normal” secondary pulmonary lobule air trapping [response]
Chest
(1994) - et al.
Emphysematous lesions and lung function in healthy smokers 60 years of age
Respir Med
(2000) Spontaneous pneumothorax hos 2 soskende in 2 siblings
Hospital Stidende
(1921)Familial occurrence of spontaneous pneumothorax
Acta Med Scand
(1950)Familial spontaneous pneumothorax
Scott Med J
(1957)- et al.
Familial spontaneous pneumothorax
Am Rev Respir Dis
(1960) Familial idiopathic spontaneous pneumothorax
Helv Paediatr Acta
(1961)
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