Title

Management of CRMS/CFSPID

Authoring Organization

Publication Month/Year

April 5, 2024

Last Updated Month/Year

April 9, 2024

Document Type

Guideline

Country of Publication

US

Document Objectives

A multidisciplinary committee developed evidence-based guidelines for the management of cystic fibrosis transmembrane conductance regulator-related metabolic syndrome/cystic fibrosis screen-positive, inconclusive diagnosis (CRMS/CFSPID). A total of 24 patient, intervention, comparison, and outcome questions were generated based on surveys sent to people with CRMS/CFSPID and clinicians caring for these individuals, previous recommendations, and expert committee input. Four a priori working groups (genetic testing, monitoring, treatment, and psychosocial/communication issues) were used to provide structure to the committee. A systematic review of the evidence was conducted, and found numerous case series and cohort studies, but no randomized clinical trials. A total of 30 recommendations were graded using the US Preventive Services Task Force methodology. Recommendations that received ≥80% consensus among the entire committee were approved. The resulting recommendations were of moderate to low certainty for the majority of the statements because of the low quality of the evidence. Highlights of the recommendations include thorough evaluation with genetic sequencing, deletion/duplication analysis if <2 disease-causing variants were noted in newborn screening; repeat sweat testing until at least age 8 but limiting further laboratory testing, including microbiology, radiology, and pulmonary function testing; minimal use of medications, which when suggested, should lead to shared decision-making with families; and providing communication with emphasis on social determinants of health and shared decision-making to minimize barriers which may affect processing and understanding of this complex designation. Future research will be needed regarding medication use, antibiotic therapy, and the use of chest imaging for monitoring the development of lung disease.

Inclusion Criteria

Male, Female, Adolescent, Child, Infant

Health Care Settings

Ambulatory

Intended Users

Nurse, nurse practitioner, physician, physician assistant

Scope

Diagnosis, Assessment and screening, Management

Diseases/Conditions (MeSH)

D003550 - Cystic Fibrosis

Keywords

cystic fibrosis, cystic fibrosis (CF)

Source Citation

Green DM, Lahiri T, Raraigh KS, Ruiz F, Spano J, Antos N, Bonitz L, Christon L, Gregoire-Bottex M, Hale JE, Langfelder-Schwind E, La Parra Perez Á, Maguiness K, Massie J, McElroy-Barker E, McGarry ME, Mercier A, Munck A, Oliver KE, Self S, Singh K, Smiley M, Snodgrass S, Tluczek A, Tuley P, Lomas P, Wong E, Hempstead SE, Faro A, Ren CL. Cystic Fibrosis Foundation Evidence-Based Guideline for the Management of CRMS/CFSPID. Pediatrics. 2024 Apr 5:e2023064657. doi: 10.1542/peds.2023-064657. Epub ahead of print. PMID: 38577740.