On the basis of these findings we hypothesized that relatives of patients with both sporadic and familial PF would be at an increased risk to have an undiagnosed form of PF. Third, undiagnosed research participants with imaging abnormalities suggestive of ILD have increased allele frequencies for some of the same genetic variants noted to be associated with both sporadic IPF and FPF ( 6, 7, 20, 21). Second, many of the same genetic variants ( 12– 17) are known to be associated with the risk to develop both sporadic IPF and FPF ( 18, 19). First, studies characterizing chest computed tomography (CT) abnormalities in the general population suggest that early stages of interstitial lung disease (ILD) are more prevalent than previously appreciated and are often unrecognized clinically ( 7– 11). There are several reasons to believe that relatives of patients with sporadic IPF could be at increased risk of developing PF. Although studies have identified subsets of asymptomatic relatives from kindred with FPF with evidence for an early stage of FPF ( 3, 5, 6), the risk of developing an early stage of pulmonary fibrosis (PF) in undiagnosed relatives of patients with sporadic IPF is not known. The clinical presentation of newly diagnosed cases of sporadic IPF and FPF substantially overlap ( 3– 5). In contrast, familial pulmonary fibrosis (FPF), diagnosed when a second case of IPF, or idiopathic interstitial pneumonia, is identified in a family ( 3), is a less common presentation (with estimates ranging from 0.5% to 20% of IPF cases) ( 2, 4). Idiopathic pulmonary fibrosis (IPF), a disorder of progressive lung scarring ( 1), is most commonly diagnosed as a sporadic or isolated case of IPF in a family ( 2). Our findings suggest that screening for pulmonary fibrosis in first-degree relatives might be warranted. Relatives with decrements in either total lung or diffusion capacity had a greater than ninefold increase in their odds of having ILA. There was no evidence that the prevalence of either ILA or ILD differed between the relatives of patients with FPF and sporadic IPF. Of the relatives with ILA, 58% had further evidence for ILD. Our study demonstrates that 31% of first-degree relatives of patients with pulmonary fibrosis had interstitial lung abnormalities (ILA) on computed tomography, whereas 69% were either indeterminate or had no ILA. Our findings suggest that screening for PF in relatives might be warranted. First-degree relatives of patients with both familial and sporadic IPF appear to be at similar risk. Relatives with decrements in either total lung or diffusion capacity had a greater than 9-fold increase in their odds of having ILA (odds ratio, 9.6 95% confidence interval, 3.1–29.8 P < 0.001).Ĭonclusions: An undiagnosed form of ILD may be present in greater than 1 in 6 older first-degree relatives of patients with PF. There was no evidence in multivariable analyses that the prevalence of either ILA or ILD differed between the 46 relatives with FPF and the 59 relatives with sporadic IPF. Of the 33 relatives with ILA, 19 (58%) had further evidence for ILD (defined by the combination of imaging findings and pulmonary function testing decrements). Measurements and Main Results: Of the 105 relatives in the study, 33 (31%) had ILA, whereas 72 (69%) were either indeterminate or had no ILA. Methods: Undiagnosed first-degree relatives of patients with pulmonary fibrosis (PF) consented to participate in a screening study that included the completion of questionnaires, pulmonary function testing, chest computed tomography, a blood sample collection for immunophenotyping, telomere length assessments, and genetic testing. Objectives: To identify the prevalence of interstitial lung abnormalities (ILA) and ILD among relatives of patients with FPF and sporadic IPF. Rationale: Although relatives of patients with familial pulmonary fibrosis (FPF) are at an increased risk for interstitial lung disease (ILD), the risk among relatives of sporadic idiopathic pulmonary fibrosis (IPF) is not known.
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