Familial Emphysema

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Abstract
A case of familial predisposition to pulmonary disease is presented with a family pedigree dating back approximately 150 years. Six among 8 siblings had a history of chronic obstructive pulmonary disease. Four of the 8 siblings had clinical and laboratory findings indicative of diffuse obstructive pulmonary emphysema. The finding is especially unusual in that 3 of the latter are female. All of the siblings with disease were moderate cigarette smokers in the past. However, the disturbances in pulmonary function found in these patients were too great to be accounted for by cigarette smoking alone. The possibilities of a forme fruste of cystic fibrosis or autoimmune mechanism were considered unlikely on the basis of laboratory tests. The disease appears to follow the familial distribution of an autosomal dominant trait with variable phenotypic expression. The strong relationship between smoking and pulmonary disease in this family suggests that repeated trauma from tobacco smoke inhalation might be the factor enhancing expression of the genetic abberation.