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Diagnostic challenges in CFTR-related metabolic syndrome: Where the guidelines fall short
Erin F Kallam1, Ajay S Kasi1, Eileen Barr2
1Center for Cystic Fibrosis and Airways Disease Research, Emory University Department of Pediatrics and Children's Healthcare of Atlanta, Atlanta, GA, USA.
Insights
Newborn screening for cystic fibrosis (CF) identifies infants who may have CFTR-Related Metabolic Syndrome (CRMS) or CF Screen-Positive, Inconclusive Diagnosis (CFSPID). Current guidelines for CRMS/CFSPID management have gaps and differences, necessitating updates.
Area of Science:
- Pediatrics
- Genetics
- Metabolic Disorders
Background:
- Newborn screening (NBS) for cystic fibrosis (CF) improves early diagnosis and outcomes.
- CFTR-Related Metabolic Syndrome (CRMS) / CF Screen-Positive, Inconclusive Diagnosis (CFSPID) describes infants with positive NBS but not meeting CF diagnostic criteria.
- A significant percentage (11-48%) of CRMS/CFSPID patients may progress to CF over time.
Purpose of the Study:
- To review challenging case scenarios in CRMS/CFSPID management.
- To identify gaps in existing CFTR-Related Metabolic Syndrome (CRMS) and CF Screen-Positive, Inconclusive Diagnosis (CFSPID) guidelines.
- To support the need for unified and updated management guidelines.
Main Methods:
- Review of challenging case scenarios in CRMS/CFSPID.
- Analysis of current CF Foundation and European CF Society guidelines.
- Comparative assessment of guideline similarities and differences.
Main Results:
- Case reviews highlight areas where current CRMS/CFSPID guidelines are insufficient.
- Discrepancies exist between CF Foundation and European CF Society guidelines.
- Gaps in management protocols for CRMS/CFSPID patients were identified.
Conclusions:
- Existing guidelines for CRMS/CFSPID management require updates.
- Unifying CRMS and CFSPID guidelines is necessary for consistent patient care.
- Further research and guideline refinement are crucial for optimal outcomes in infants identified through NBS for CF.
Abstract:
Newborn screening (NBS) for cystic fibrosis (CF) has enabled earlier diagnosis and has improved nutritional and growth-related outcomes in children with CF. For those with a positive NBS for CF that do not meet the diagnostic criteria for CF, the clinical entity called CFTR-Related Metabolic Syndrome (CRMS) or CF Screen- Positive, Inconclusive Diagnosis (CFSPID) is used. Although most children with CRMS remain relatively asymptomatic, studies have shown that between 11% and 48% of these patients may eventually progress to a diagnosis of CF over time. Although the CF Foundation guidelines for CRMS management and European CF Society guidelines for CFSPID have some similarities, there are also some differences. Here, we review challenging case scenarios that highlight remaining gaps in CRMS guidelines, thus supporting the need to update and unify existing guidelines.
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