Familial forms of nonspecific interstitial pneumonia/idiopathic pulmonary fibrosis

PURPOSE OF REVIEW: Familial pulmonary fibrosis has long been recognized and suggests that pulmonary fibrosis may have a genetic origin in some cases with an autosomal dominant transmission. RECENT FINDINGS: Mutations in the telomerase complex and in the surfactant pathways have been discovered in the last decade. Almost 20% of the cases of familial pulmonary fibrosis are related to known functional mutations in one of these systems. A polymorphism in the promoter of the MUC5B gene has been associated with both sporadic and familial forms of idiopathic pulmonary fibrosis; however, the impact of this association remains to be determined. SUMMARY: These genes point to alveolar epithelium injury and repair as a major component of the fibrotic process.