Genetics of familial pulmonary fibrosis and other variants

Idiopathic pulmonary fibros (IPF) is an incurable disease with a 5-year survival of 30–50% from the time of diagnosis (1). In recent years, there has been much progress made in understanding the cellular and molecular events leading to pulmonary fibrosis (PF). However, the exact pathogenesis has yet to be determined. The initiating stimulus is unknown in the majority of patients, and only a subset of individuals (5–20%) exposed to known fibrogenic agents actually develop interstitial lung disease (ILD) and PF. Despite the expanding knowledge of the pathophysiology of these diseases, there is currently no effective treatment. Several lines of evidence suggest that inherited genetic factors play a role in the development of pulmonary fibrosis; at least in a subset of patients. The discovery of these genes would lead to attaining a greater understanding of the cellular and molecular mechanisms of this disease, counseling carriers about preventive measures and avoidance of certain exposures and occupations, identifying those with early potentially reversible interstitial lung disease, and developing novel therapeutic approaches for pulmonary fibrosis. Moreover, the role of these genes in other more common forms of interstitial lung disease, such as asbestosis, can be studied leading to similar benefits. This chapter addresses the genetic basis of pulmonary fibrosis and reviews the types of pulmonary fibrosis that have a clearly defined genetic basis.