#NACFC2022 – System Classifies Lung Disease Severity in Very Young

Researchers tell conference about the CFELD scoring system

Marisa Wexler, MS avatar

by Marisa Wexler, MS |

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This is an illustration of a doctor talking to a child, who is seated on an exam table.

A novel scoring system may be used to classify the severity of lung disease among children with cystic fibrosis (CF) in their first years of life.

Leslie Huang, a medical student at the University of Wisconsin, discussed the system at the 2022 North American Cystic Fibrosis Conference in Philadelphia, Pennsylvania, in a talk titled “Defining and identifying early-onset lung disease in cystic fibrosis with cumulative clinical characteristics in the first 3 years of life.”

Lung disease affects most people with CF at some point, but the timing and severity of lung disease in CF can vary widely from person to person. What determines early-onset lung disease in CF, and the link between genetic and environmental risk factors for the prognosis of young children, remain scarcely studied, the scientists noted.

Huang and colleagues set out to create a system to classify the severity of lung disease among very young children with CF, which they dubbed CF Early-onset Lung Disease or CFELD.

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“The CFELD scoring system is novel, allows early systematic evaluation of lung disease prognosis, and may aid in therapeutic decision-making,” the researchers wrote.

To construct the system, the team analyzed data from 145 babies with CF who were followed for three years starting in the first months after birth. The data were collected as part of a study called FIRST, which is evaluating the benefits and risks of breastfeeding for babies with CF. A total of 104 patients also participated in genetic analysis to establish polygenic risk scores for lung disease. Notably, polygenic risk scores account for the effect of several genetic variants in the same individual, and have been used in cancer and cardiovascular disease research.

Data included in developing the CFELD system included cough severity, hospitalizations related to lung issues, the presence of bacteria in respiratory cultures, and rates of pulmonary exacerbation (a sudden worsening of lung function, usually due to infection).

“These longitudinal data were used to construct the novel CFELD system, and overall CFELD scores were used to classify lung disease at 3 years of age into five categories: asymptomatic, minimal, mild, moderate, and severe,” the researchers wrote.

Of the 145 CF children, 10% were classified as asymptomatic, 17% minimal, 29% mild, 33% moderate, and 12% as severe.

The most common factors associated with worse scores were exacerbations, hospitalizations, and testing positive for Pseudomonas aeruginosa, the most common bacteria in CF lung infections. Of note, the majority of babies had notable parent-reported coughing within their first three years, and coughing severity was significantly correlated with rates of lung-related hospitalizations.

Statistical analyses

With these scores assigned, the researchers conducted statistical analyses to look for non-lung factors that are associated with a worse CFELD score.

Hospitalizations related to digestive or nutritional problems were a significant predictor of worse CFELD score; moderate and severe scores were about three times more common among patients with pancreatic insufficiency compared to those whose pancreas released normal amounts of digestive enzymes (49% vs. 16%). High blood levels of a signaling molecule called interleukin-6 also were associated with worse CFELD score.

In addition, having a low polygenic risk score correlated with a risk of more severe CFELD score, showing “for the first time that polygenic risk score is a significant predictor of the early-onset lung disease phenotype in young children with CF,” Huang noted.

Analyses also showed that children of more educated parents (specifically parents who had attended community college or above) were less likely to end up in the “severe” category of CFELD.

“In the FIRST cohort, maternal education is the single most significant [socioeconomic status] predictor for early-onset CF lung disease in the first 3 years of life,” Huang added.

She noted that the polygenic risk score may be incorporated into clinical research and also in the management of lung disease in CF.

“Genetic, socioeconomic status, and environmental factors should be included in addition to CF care for risk prediction of early-onset lung disease outcomes,” Huang said.

A limitation of the study was the underrepresentation of African American and Hispanic CF patients, Huang added.

Note: The Cystic Fibrosis News Today team is providing in-depth coverage of the 2022 North American Cystic Fibrosis Conference (NACFC) Nov. 3–5. Go here to see the latest stories from the conference.

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