Study Highlights Gaps in Complete Cystic Fibrosis-Associated Liver Disease Screening

Insurance and ethnicity may be linked to incomplete cystic fibrosis-associated liver disease (CFLD) screening risk, according to findings from a recent study.1

The retrospective chart review leveraged data for people with cystic fibrosis followed in the cystic fibrosis multidisciplinary clinic at University of California San Francisco Benioff Children's Hospitals and found 1 in 5 patients were incompletely screened for CFLD based on 2023 guidelines, with Hispanic ethnicity and public insurance linked to an increased risk.1

“Advanced CFLD is the third most common cause of death in people with cystic fibrosis, causing 2.5% of all cystic fibrosis mortality,” Alaa Abdelghani, MD, of the department of pediatric gastroenterology, hepatology, and nutrition at Benioff Children's Hospital at the University of California San Francisco, and colleagues wrote.1 “But CFLD can remain asymptomatic until it reaches an advanced stage. Therefore, screening people with cystic fibrosis is essential to identify CFLD at early stages—and ideally to mitigate its complications.”

In 1999, the Cystic Fibrosis Foundation published recommendations for the diagnosis and management of cystic fibrosis-associated liver disease. In recognition of advanced research on hepatobiliary disease in cystic fibrosis and the emergence of new technologies and treatments since the publication of these recommendations, new consensus guidelines and recommendations on the diagnosis, monitoring, and treatment of cystic fibrosis-associated hepatobiliary complications were published in 2023.2

To assess gaps in CFLD screening practices and identify person-level predictors of incomplete screening based on these updated consensus guidelines, investigators retrospectively reviewed medical records of people with cystic fibrosis 0−21 years of age who had ≥ 2 outpatient cystic fibrosis clinic visits at Benioff Children's Hospitals between January 2017 and January 2023. Of note, they excluded patients who received a liver transplant during the study period due to differences in expected liver monitoring.1

To determine the completeness of CFLD screening for the cohort, investigators used the standards proposed in the 2023 CFLD guidelines from the Cystic Fibrosis Foundation. Incomplete CFLD lab screening was defined as missing ≥ 1 component of the guidelines' recommended lab screening bundle, including total bilirubin, aspartate transferase (AST), alanine transferase (ALT), alkaline phosphatase (ALK), gamma glutamyl transferase (GGT), and platelets, or receiving the bundle less than once per year of follow up during the study period.1

Investigators identified people with cystic fibrosis who met criteria for hepatobiliary involvement, defined as persistently elevated AST, ALT, or GGT > x1.5 upper limit of normal for age/sex for > 3 months and/or abnormal liver imaging. They investigated hepatobiliary involvement documentation and completeness of liver laboratory workup via medical record coded data and chart review.1

The primary outcomes were complete lab screening for all people with cystic fibrosis and obtaining any additional liver lab workup for people with cystic fibrosis and hepatobiliary involvement.1

In total, the cohort included 112 people with cystic fibrosis, the majority of whom were female (52%) with a median age of 12 years at the completion of study period. Investigators noted the cohort was socioeconomically and ethnically diverse, with 27% of patients being Hispanic or Latino, 37% self-reporting as mixed race, and 53% having public insurance.1

Results showed all participants received screening labs for CFLD at least once per year of follow-up, but 19% (n = 21) had incomplete CFLD screening due to missing ≥ 1 lab component per year, with GGT identified as the most frequently missed (14%; n = 16).1

Investigators noted ethnicity and insurance type were significant predictors of incomplete screening, with Hispanic patients and those with public insurance more likely to have incomplete screening. In a multivariate model, after eliminating non-significant predictors, ethnicity, number of cystic fibrosis/pulmonary visits, and not seeing GI outpatient were independent predictors of incomplete screening.1

Among the cohort, 45 participants met the diagnostic criteria for hepatobiliary involvement. Of these individuals, 5 received the full hepatitis workup recommended in the new cystic fibrosis guidelines, and nearly half (48%) of those with hepatobiliary involvement had no additional liver-specific labs.1

Further analysis revealed those with documented hepatobiliary involvement (42%) were more likely to receive additional workup than those without documentation (P = .004).1

“This analysis highlights the CFLD screening practices at our cystic fibrosis center over a 6-year period and has provided directions for our efforts to improve the implementation of the new guidelines,” investigators concluded.1

References

1. Abdelghani A, Cuneo A, Gibb E, et al. Identifying Gaps and Disparities in Screening for Cystic Fibrosis Associated Liver Disease: Insights From a CF Center Analysis. Pediatric Pulmonology. https://doi.org/10.1002/ppul.71097

2. Sellers ZM, Assis DN, Paranjape SM, et al. Cystic fibrosis screening, evaluation, and management of hepatobiliary disease consensus recommendations. Hepatology. doi:10.1097/HEP.0000000000000646