CHEST Guidelines-Intrafamilial-Correlation-and-Variability-in-the-C

Intrafamilial-Correlation-and-Variability-in-the-C

Pdf Summary

The study explores intrafamilial correlations and variability in the clinical evolution of familial pulmonary fibrosis (FPF), an interstitial lung disease affecting multiple family members, distinguishing it from sporadic pulmonary fibrosis. The research focused on analyzing 101 patients from 45 families, investigating the intrafamilial correlation of age at diagnosis, CT imaging patterns, and the evolution of forced vital capacity (FVC).<br /><br />Key findings revealed that patients often presented symptoms at similar ages within the same generation, with younger generations being diagnosed earlier, suggesting a trend of genetic anticipation. A significant intrafamilial correlation (ICC = 0.75) for age at diagnosis supported this. CT imaging patterns showed concordance within families in 42.2% of cases, with various presentations such as typical usual interstitial pneumonia (UIP) and atypical findings. This points to both genetic and environmental factors influencing disease manifestation.<br /><br />FVC % predicted trajectory also showed high intrafamilial correlation, evident in the consistent progression of the disease among affected relatives. The study is pioneering in documenting the FVC evolution correlation within families, revealing that observing the disease course in one family member can potentially predict the progression in another.<br /><br />The study acknowledges limitations, including its single-center, retrospective nature and the lack of routine genetic testing, though only a small percentage of FPF cases are linked to identifiable genetic mutations. Despite these limitations, the findings emphasize the necessity for further exploration of genetic and environmental factors influencing FPF and suggest potential benefits of screening at-risk relatives. The study was conducted at University Hospitals Leuven and highlights the importance of considering familial history in managing and understanding the progression of pulmonary fibrosis.

Keywords

familial pulmonary fibrosis

interstitial lung disease

intrafamilial correlations

genetic anticipation

CT imaging patterns

forced vital capacity

genetic factors

environmental factors

disease progression

University Hospitals Leuven