Interstitial Lung Disease in Relatives of Patients with Pulmonary Fibrosis

Preclinical interstitial lung disease in relatives of familial pulmonary fibrosis patients

“…We observed a lower rate of smoking (both ever smoking and pack years) in the relatives found to have preclinical ILD, compared to their unaffected counterparts, however this may reflect that our preclinical ILD group were on average 10 years older compared to the unaffected relatives and the small group numbers in our cohort. However, this is consistent with Hunninghake et al [3] who reported a lower frequency of ever smoking in relatives from families with familial ILD (28%) compared to families with apparent sporadic disease (52%). Considering these data in the context of Hunninghake et al [3], Salisbury et al [5] and Aburto et al [4], it provides evidence that clinical examination of first-degree relatives of ILD patients, particularly those with a family history of ILD provides an opportunity for early diagnosis which is critical to providing individuals with opportunities to adopt healthy lifestyle interventions, and facilitate access to innovative clinical ILD management practices as they are developed.…”

“…Further research is required to determine an appropriate screening window for the offspring of patients, however, we propose that the age of diagnosis for known patients in the family should be considered. The MUC5B risk allele was nearly twice as frequent in relatives with preclinical ILD than in unaffected relatives, (35.7% vs 18.8%) and almost as frequent as observed in known patients (45.2%), consistent with the findings of Hunninghake et al [3] and Salisbury et al [5]. We observed a lower rate of smoking (both ever smoking and pack years) in the relatives found to have preclinical ILD, compared to their unaffected counterparts, however this may reflect that our preclinical ILD group were on average 10 years older compared to the unaffected relatives and the small group numbers in our cohort.…”

“…We observed a high incidence of preclinical ILD in relatives of patients with familial ILD in our Australian cohort (46.7%), notably higher than recent studies in the American families described in Hunninghake et al [3] (26%) and Salisbury et al [5] (23%). It is possible that the incidence of preclinical ILD was higher in our familial cohort due to our targeted selection of families with a strong family history of ILD, however our study was also smaller and older (65.8 years compared to 60 years [3] and 53.1 years [5]), which may have contributed to the differences. Preclinical ILD was only observed in siblings of patients, consistent with Aburto et al [4] who demonstrated that 52.6% of siblings of apparent sporadic IPF patients had preclinical ILD, whilst only 5.6% of their offspring were affected at the time of examination.…”

“…The mean age of the offspring cohort in Aburto et al [4] was 47.7 years, and as the mean age of familial IPF onset is 55 years [8], some individuals may be yet to develop preclinical ILD. Neither Hunninghake et al [3] or Salisbury et al [5] differentiated between siblings and offspring. Further research is required to determine an appropriate screening window for the offspring of patients, however, we propose that the age of diagnosis for known patients in the family should be considered.…”

“…Our study has established a clinically-annotated familial ILD genetic resource aiming to better understand disease causation. Recently, studies have suggested that screening first-degree relatives of ILD and IPF cases for evidence of preclinical ILD may be worthwhile approach to improve detection of ILD in its early stages [3][4][5]. Here, we sought to provide additional evidence through sharing insights generated from a familial ILD cohort.…”