Clinical and Radiologic Characteristics of Familial Pulmonary Fibrosis in the CAREPF Registry
Bibliographic record
Abstract
Abstract Rationale Familial pulmonary fibrosis (FPF) is defined by two or more family members within the same family being affected by interstitial lung disease (ILD). It has been found that patients with FPF may present earlier and with a more aggressive phenotype than other ILD patients. Patient-reported family history may be used as an adjunct prognostic marker, as patient-reported family history predicts reduced transplant free survival and performs well to identify at-risk individuals, even in the absence of predisposing genetic variants. The objective of this study was to characterize the prevalence, characteristics and prognosis of FPF from a large, multicenter national ILD registry. Methods The Canadian Registry for Pulmonary Fibrosis is a prospective, multicentre ILD registry. All patients with ILD (idiopathic pulmonary fibrosis (IPF), connective tissues disease ILD (CTD-ILD), hypersensitivity pneumonitis (HP), unclassifiable ILD, and other ILDs) were eligible for inclusion. Family history was ascertained by patient questionnaire or physician documentation, kinship was not recorded. In a subset, baseline CT scans were scored for radiologic patterns, blinded to clinical data. Continuous variables are presented as mean ± standard deviation (SD). Death and transplant free survival were evaluated using mixed effects Cox regression model, adjusted for age, sex, smoking, baseline lung function, and treatment. Categorical variables were analyzed using Pearson's chi-square test. Results Of 5454 eligible patients 731 (13%) had patient or physician reported FPF (Table 1). In IPF, HP and unclassifiable ILD, familial versus sporadic ILD was associated with an earlier age at diagnosis. Compared to sporadic IPF, patients with familial IPF were more likely to be female (p<0.001), never smokers (p=0.001) and be referred for lung transplant assessment (p=0.024). Physician reported FPF was associated with increased mortality in adjusted models (HR 1.33, 95%CI 1.09 to 1.62). Of the 1519 participants with radiologic data, 197 (15%) had FPF. Radiologist defined NSIP (p<0.001) and UIP (p=0.014) were more common in FPF compared to sporadic ILD. Conclusions In this multicentre registry, FPF was prevalent in 13% of registry participants and was associated with specific clinical characteristics, including sex, earlier age at diagnosis and a higher likelihood of non-smoking status, and prognosis including mortality. These findings emphasize the importance of ascertaining family history in ILD assessments, as it may offer valuable insights for identifying at-risk individuals and refining management strategies. Further research is warranted to investigate the genetic and environmental factors contributing to FPF and its varied phenotypic presentations.
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How this classification was reachedexpand
Full frame machine prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.
Distilled classifier scores by category (both heads)
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.002 | 0.008 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.002 | 0.003 |
| Science and technology studies | 0.001 | 0.000 |
| Scholarly communication | 0.001 | 0.000 |
| Open science | 0.001 | 0.000 |
| Research integrity | 0.000 | 0.000 |
| Insufficient payload (model declined to judge) | 0.002 | 0.000 |
Machine scores (provisional)
The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.
Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.
score_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from itClassification
machine, unvalidatedMachine predicted; a candidate call from one source (direct Gemma or distilled Codex), not a consensus.
How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".