Defining and identifying early-onset lung disease in cystic fibrosis with cumulative clinical characteristics
Leslie Huang1, HuiChuan J Lai1,2,3, Nicholas Antos4
1Department of Pediatrics, University of Wisconsin-Madison, Madison, Wisconsin, USA.
Insights
A new scoring system helps identify early cystic fibrosis (CF) lung disease in children. This tool aids in prognosis and treatment decisions, especially for initiating CFTR modulator therapy.
Area of Science:
- Pediatric Pulmonology
- Clinical Informatics
- Genetic Diseases
Background:
- Cystic Fibrosis (CF) lung disease presents heterogeneously in young children.
- A clinical method is needed to identify early-onset lung disease in CF patients.
Purpose of the Study:
- To develop a Cystic Fibrosis Early-Onset Lung Disease (CFELD) scoring system.
- Utilize prospectively collected longitudinal data from the first three years of life.
Main Methods:
- Studied 145 infants diagnosed by 3 months and followed to 36 months.
- Collected data on cough, pulmonary exacerbations (PEx), respiratory cultures, and hospitalizations.
- Constructed the CFELD system to classify lung disease into five categories.
Main Results:
- Frequent manifestations included PEx episodes, PEx hospitalizations, and Pseudomonas aeruginosa.
- Parent-reported cough correlated with respiratory hospitalizations (r=0.48).
- Moderate/severe CFELD categories were threefold higher in pancreatic insufficient (PI) subjects.
- PI, GI/nutrition hospitalizations, IL-6/IL-10, CFTR modulator therapy duration, and insurance type predicted CFELD scores.
Conclusions:
- The CFELD scoring system offers a novel, systematic evaluation of early lung disease prognosis.
- This system may assist in therapeutic decision-making, particularly for initiating CFTR modulator therapy.
Background:
Because of the heterogeneity in cystic fibrosis (CF) lung disease among young children, a clinical method to identify early-onset lung disease is needed.
Objective:
To develop a CF early-onset lung disease (CFELD) scoring system by utilizing prospectively collected longitudinal data on manifestations in the first 3 years of life.
Design:
We studied 145 infants born during 2012-2017, diagnosed through newborn screening by age 3 months, and followed to 36 months of age. Cough severity, pulmonary exacerbations (PEx), respiratory cultures, and hospitalizations were collected at each CF center visit (every 1-2 months in infancy and quarterly thereafter). These data were used to construct the CFELD system and to classify lung disease into five categories: asymptomatic, minimal, mild, moderate, and severe.
Results:
The most frequent manifestation of CF early lung disease was MD-reported PEx episodes, PEx hospitalizations, and positive Pseudomonas aeruginosa cultures. Parent-reported cough severity was correlated with the number of respiratory hospitalizations (r = 0.48, p < 0.0001). The distribution of CFELD categories was 10% asymptomatic, 17% minimal, 29% mild, 33% moderate, and 12% severe. The moderate and severe categories occurred threefold higher in pancreatic insufficient (PI, 49%) versus sufficient subjects (16%), p < 0.0001. In addition to PI, gastrointestinal and nutrition-related hospitalizations, plasma cytokines interleukin (IL)-6 and IL-10, duration of CFTR modulator therapy, and type of health insurance were significant predictors of CFELD scores.
Conclusion:
The CFELD scoring system is novel, allows systematic evaluation of lung disease prognosis early, and may aid in therapeutic decision-making particularly in the initiation of CFTR modulator therapy.
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