Familial Spontaneous Pneumothorax

Hsienchang Thomas Chiu; Christine Kim Garcia


Curr Opin Pulm Med. 2006;12(4):268-272. 

In This Article

Genetics of Familial Spontaneous Pneumothorax

In 1991, Abolnik et al.[9] postulated two modes of inheritance for familial spontaneous pneumothorax: autosomal dominant with reduced penetrance in some families, and X-linked recessive in others. It was noted in their study that affected individuals in the families with presumed X-linked recessive inheritance were usually younger and had fewer episodes of spontaneous pneumothorax than those in the autosomal dominant group. For the pedigrees consistent with an autosomal dominant pattern of inheritance with variable penetrance, the penetrance rate was estimated to be 50% for males and 35% for females.

Case reports of other families have been rare. Some have reported cases of affected fraternal twins or siblings within a family, but these have included small numbers of affected individuals.[33,34,35,36,37] The largest families for whom case reports have been published have suggested an autosomal dominant mode of inheritance with variable penetrance.[38,39,40,41,42,43,44] The genetic underpinning for this disorder was not known prior to 2005.


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