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.Objectives: To identify the prevalence of interstitial lung abnormalities (ILA) and ILD among relatives of patients with FPF and sporadic IPF.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.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. 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). 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. 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).Conclusions: An undiagnosed form of ILD may be present in greater than 1 in 6 older first-degree relatives of patients with PF. First-degree relatives of patients with both familial and sporadic IPF appear to be at similar risk. Our findings suggest that screening for PF in relatives might be warranted.

中文翻译：

---

肺纤维化患者亲属间质性肺疾病。

在33名患有ILA的亲戚中，有19名（58％）有进一步的ILD证据（由影像学发现和肺功能检查减量的组合定义）。在多变量分析中，没有证据表明46名FPF亲属和59名零星IPF亲属之间的ILA或ILD患病率不同。总肺或弥散能力降低的亲戚患ILA的几率增加了9倍以上（优势比为9.6; 95％置信区间为3.1-29.8; P <0.001）。在PF患者中，ILD可能存在于超过6个年龄较大的一级亲属中。患有家族性和散发性IPF的患者的一级亲属似乎处于相似的风险中。我们的研究结果表明，可能有必要筛查亲戚中的PF。19名（58％）有进一步的ILD证据（由影像学发现和肺功能检查减退的结合定义）。在多变量分析中，没有证据表明46名FPF亲属和59名零星IPF亲属之间的ILA或ILD患病率不同。总肺或弥散能力降低的亲戚患ILA的几率增加了9倍以上（优势比为9.6; 95％置信区间为3.1-29.8; P <0.001）。在PF患者中，ILD可能存在于超过6个年龄较大的一级亲属中。患有家族性和散发性IPF的患者的一级亲属似乎处于相似的风险中。我们的研究结果表明，可能有必要筛查亲戚中的PF。19（58％）有进一步的ILD证据（由影像学发现和肺功能检查减退的结合定义）。在多变量分析中，没有证据表明46名FPF亲属和59名零星IPF亲属之间的ILA或ILD患病率不同。总肺或弥散能力降低的亲戚患ILA的几率增加了9倍以上（优势比为9.6; 95％置信区间为3.1-29.8; P <0.001）。在PF患者中，ILD可能存在于6个年龄较大的一级亲属中。患有家族性和散发性IPF的患者的一级亲属似乎处于相似的风险中。我们的研究结果表明，可能有必要筛查亲戚中的PF。