The following is a summary of “Clinical, radiological and histopathological features of patients with familial pulmonary fibrosis,” published in the June 2024 issue of Pulmonology by Jaula et al.

Familial pulmonary fibrosis (FPF) is characterized by pulmonary fibrosis affecting at least two biological relatives, presenting a diverse array of clinical features among affected individuals. This study aimed to comprehensively characterize the demographic and clinical profiles of patients with FPF, reassess high-resolution computed tomography (HRCT) scans, evaluate the histopathology of surgical lung biopsies, assess survival outcomes, and examine the applicability of risk prediction models specific to this patient population. The researchers conducted a retrospective cohort study utilizing data from Oulu University Hospital and Oulaskangas District Hospital, encompassing 68 patients diagnosed with pulmonary fibrosis (ICD 10-code J84.X) between January 1, 2000, and January 11, 2023, who also reported having at least one relative with the same condition. 

Clinical information was extracted from hospital medical records, and both HRCT scans and histological specimens were re-evaluated. Among the cohort, 37 patients (54.4%) were male and 31 (45.6%) female, with mean ages of 68.6 years for women and 61.7 years for men (p = 0.003). Notably, 37 patients (54.4%) were nonsmokers. The predominant radiological pattern identified was usual interstitial pneumonia (UIP), observed in 51 patients (75.0%), followed by unclassifiable patterns (8 patients, 11.8%) and nonspecific interstitial pneumonia (NSIP) in 3 patients (4.4%). Pleuroparenchymal fibroelastosis (PPFE) was noted in 13.2% of the cases as a singular or combined pattern. 

According to the 2022 guidelines for idiopathic pulmonary fibrosis (IPF), patients were classified as UIP (31 patients, 45.6%), probable UIP (20 patients, 29.4%), indeterminate for UIP (7 patients, 10.3%), or having alternative diagnoses (10 patients, 14.7%). Histopathological analysis revealed similar findings, with UIP observed in 7 patients (41.2%). Genetic variants were detected in 9 patients, including telomerase reverse transcriptase (TERT) in 6 cases, telomerase RNA component (TERC) in 2, and regulator of telomere elongation helicase 1 (RTEL1) in 1 case. The overall survival analysis indicated that 29 patients (approximately 42.6%) died or underwent lung transplantation (5 patients), with a median survival time of 39.9 months. 

The composite physiology index (CPI) and the gender-age-physiology index (GAP) stage I were statistically significant predictors of survival (p < 0.001). In conclusion, the study corroborates previous findings, highlighting the diverse radiological and histopathological patterns in FPF and the presence of unique combinations of these features.

Source: respiratory-research.biomedcentral.com/articles/10.1186/s12931-024-02864-5