Development and Progression of Radiologic Abnormalities in Individuals at Risk for Familial Interstitial Lung Disease

Am J Respir Crit Care Med. 2020 May 15;201(10):1230-1239. doi: 10.1164/rccm.201909-1834OC.

Abstract

Rationale: The preclinical natural history of progressive lung fibrosis is poorly understood.Objectives: Our goals were to identify risk factors for interstitial lung abnormalities (ILA) on high-resolution computed tomography (HRCT) scans and to determine progression toward clinical interstitial lung disease (ILD) among subjects in a longitudinal cohort of self-reported unaffected first-degree relatives of patients with familial interstitial pneumonia.Methods: Enrollment evaluation included a health history and exposure questionnaire and HRCT scans, which were categorized by visual assessment as no ILA, early/mild ILA, or extensive ILA. The study endpoint was met when ILA were extensive or when ILD was diagnosed clinically. Among subjects with adequate study time to complete 5-year follow-up HRCT, the proportion with ILD events (endpoint met or radiographic ILA progression) was calculated.Measurements and Main Results: Among 336 subjects, the mean age was 53.1 (SD, 9.9) years. Those with ILA (early/mild [n = 74] or extensive [n = 3]) were older, were more likely to be ever smokers, had shorter peripheral blood mononuclear cell telomeres, and were more likely to carry the MUC5B risk allele. Self-reported occupational or environmental exposures, including aluminum smelting, lead, birds, and mold, were independently associated with ILA. Among 129 subjects with sufficient study time, 25 (19.4%) had an ILD event by 5 years after enrollment; of these, 12 met the study endpoint and another 13 had radiologic progression of ILA. ILD events were more common among those with early/mild ILA at enrollment (63.3% vs. 6.1%; P < 0.0001).Conclusions: Rare and common environmental exposures are independent risk factors for radiologic abnormalities. In 5 years, progression of ILA occurred in most individuals with early ILA detected at enrollment.

Keywords: epidemiology; interstitial; lung diseases; pulmonary fibrosis; telomere.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Cigarette Smoking / epidemiology
  • Cohort Studies
  • Disease Progression
  • Environmental Exposure / statistics & numerical data
  • Female
  • Forced Expiratory Volume
  • Genetic Predisposition to Disease
  • Genotype
  • Humans
  • Longitudinal Studies
  • Lung / diagnostic imaging*
  • Lung / physiopathology
  • Lung Diseases, Interstitial / diagnostic imaging*
  • Lung Diseases, Interstitial / epidemiology
  • Lung Diseases, Interstitial / genetics
  • Lung Diseases, Interstitial / physiopathology
  • Male
  • Middle Aged
  • Mucin-5B / genetics
  • Pulmonary Diffusing Capacity
  • Tomography, X-Ray Computed
  • Total Lung Capacity
  • Vital Capacity

Substances

  • MUC5B protein, human
  • Mucin-5B