Interstitial Lung Disease in Relatives of Patients with Pulmonary Fibrosis
Interstitial Lung Disease in Relatives of Patients with Pulmonary Fibrosis
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DOI：
10.1164/rccm.201908-1571oc
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发表时间：
2020-05-15
影响因子：
24.7
通讯作者：
Rosas, Ivan O.
中科院分区：
文献类型：
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作者：
Hunninghake, Gary M.;Quesada-Arias, Luisa D.;Rosas, Ivan O.
理由：虽然家族性肺纤维化（FPF）患者的亲属患间质性肺疾病（ILD）的风险增加，但散发性特发性肺纤维化（IPF）亲属的风险尚不清楚。目的：确定FPF和散发性IPF患者亲属间质性肺异常（ILA）和ILD的患病率。方法：未确诊的肺纤维化（PF）患者的一级亲属同意参加一项筛查研究，包括完成问卷调查、肺功能测试、胸部计算机断层扫描、采集血液样本进行免疫表型分析、端粒长度评估和基因检测。测量和主要结果：在研究中的105名亲属中，33名（31%）患有ILA，而72名（69%）不确定或没有ILA。在33名患有ILA的亲属中，19名（58%）有进一步的ILD证据（通过影像学表现和肺功能测试下降的结合来定义）。在多变量分析中，没有证据表明46例FPF亲属和59例散发性IPF亲属的ILA或ILD患病率存在差异。总肺容量或扩散能力下降的亲属患ILA的几率增加了9倍以上（优势比为9.6；95%可信区间为3.1-29.8;P < 0.001）。结论：PF患者的1 / 6以上的老年一级亲属可能存在未确诊的ILD形式。家族性和散发性IPF患者的一级亲属似乎具有相似的风险。我们的研究结果表明，在亲属中筛查PF可能是有必要的。
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.