Features and outcome of familial idiopathic pulmonary fibrosis.

Background: Idiopathic pulmonary fibrosis (IPF) has a sporadic occurrence in most instances, but can also occasionally occur in familial form. While clinical features of sporadic IPF are well defined, clinical presentation, complications, and outcome of familial IPF are still undefined. This retrospective study was undertaken to establish clinical parameters and survival time in a consecutive series of patients with familial IPF and to establish whether the phenomenon of anticipation could be observed. Methods: 30 patients had received a diagnosis of familial IPF at our institution over the period from January 2005 and December 2011; in 7 of them there was a parent-child relation. Clinical features and patient outcome were analyzed and contrasted to a well characterized cohort of 127 patients with non familial IPF. Results: there was no significant difference in presenting symptoms and the overall outcomes were quite similar in the two groups, but the familial group was much more enriched for females and we found a statistically significant lower age at onset in the younger generations (mean age 57,8 years versus 74,2 years, p < 0,001). Acute exacerbations, IPF progression and lung cancer were more frequent in the familial IPF group as a cause of death (p < 0,005). Conclusion: familial IPF seems indistinguishable from sporadic IPF with respect to most clinical and physiologic findings; however the age of onset was slightly lower among the familial cases than in the sporadic cases of IPF and the phenomenon of anticipation could be observed.