ECFS standards of care on CFTR-related disorders: Updated diagnostic criteria

Castellani, Carlo; Boeck, K. De; Wachter, Elke De; Sermet‐Gaudelus, Isabelle; Simmonds, N.J.; Southern, K.W.

doi:10.1016/j.jcf.2022.09.011

Cited by 35 publications

(16 citation statements)

References 141 publications

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Section: Cystic Fibrosis Transmembrane Conductance Regulator–related ...mentioning

confidence: 99%

“…Long-term management and follow-up is discussed in recent published guidelines, but essentially CF center (or centers with a specialist interest in CF/CFTR-RD) follow-up is advised, but usually on a less intensive basis than CF standards of care. 17 When no evidence of CFTR dysfunction or CFTR-associated disease is identified, the individual can be discharged back to their referring team. In a minority of cases, the situation may remain unresolved; there may be suspicion of another channel defect (e.g., ENaC), 56 but the evidence remains unclear.…”

Section: Cystic Fibrosis Transmembrane Conductance Regulator-related ...mentioning

confidence: 99%

“…Work to improve this knowledge and inform the wider medical community is underway by the European CF Society Diagnostic Network Working Group and its CFTR-related disorders (CFTR-RDs) committee. 17…”

Section: Clinical Phenotype Of Individuals With a Late Diagnosis Of C...mentioning

confidence: 99%

“…The CF community has recently published guidelines to try to improve this situation and increase consistency, producing updated recommendations on the use of diagnostic biomarkers, diagnosis and management of CFTR-RD, to help clinical teams and improve information for patients. 17,58…”

Section: Ongoing Challenges For Adults Diagnosed With Cystic Fibrosismentioning

confidence: 99%

“…While these are still the most common presentations of CFTR-RD, recent updated published guidelines highlight that a more diverse clinical spectrum is feasible, including the possibility of polyorgan (and symptomatic) involvement. 17 Accurate separation between CFTR-RD and CF can be particularly challenging and should be conducted in specialist centers, as the diagnosis of CF may carry with it important psychological and financial consequences potentially influencing an individual's ability to secure life insurance or indeed a mortgage.…”

Section: Current Diagnostic Pathwaysmentioning

confidence: 99%

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Diagnosing Cystic Fibrosis in Adults

Barry

Simmonds

2023

Semin Respir Crit Care Med

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Diagnosing cystic fibrosis (CF) in adulthood is not a rare occurrence for CF centers despite the popular belief that the diagnosis is achieved almost universally in childhood by means of newborn screening or early clinical presentation. The purpose of this review article is to highlight specific considerations of adult diagnosis of CF. Obtaining a diagnosis of CF at any age is exceptionally important to ensure optimal treatment, monitoring, and support. In the new era of more personalized treatment with the advent of transformative therapies targeting the underlying protein defect, accurate diagnosis is of increasing importance. This review highlights the diagnostic algorithm leading to a new diagnosis of CF in adults. The diagnosis is usually confirmed in the presence of a compatible clinical presentation, evidence of cystic fibrosis transmembrane conductance regulator (CFTR) protein dysfunction, and/or identification of variants in the CFTR gene believed to alter protein function. Achieving the diagnosis, however, is not always straightforward as CFTR protein function exists on a continuum with different organs displaying varying sensitivity to diminution in function. We highlight the current knowledge regarding the epidemiology of CF diagnosed in adults and outline the various clinical presentations, including pulmonary and extrapulmonary, which are more common in this population. We expand on the stepwise testing procedures that lead to diagnosis, paying particular attention to additional levels of testing which may be required to achieve an accurate diagnosis. There continues to be an important need for both pulmonary and other specialists to be aware of the potential for later presentation of CF, as the improvements in treatment over decades have had large positive impacts on prognosis for people with this condition.

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Section: Cystic Fibrosis Transmembrane Conductance Regulator–related ...mentioning

confidence: 99%

Section: Cystic Fibrosis Transmembrane Conductance Regulator-related ...mentioning

confidence: 99%

Section: Clinical Phenotype Of Individuals With a Late Diagnosis Of C...mentioning

confidence: 99%

Section: Ongoing Challenges For Adults Diagnosed With Cystic Fibrosismentioning

confidence: 99%

Section: Current Diagnostic Pathwaysmentioning

confidence: 99%

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Diagnosing Cystic Fibrosis in Adults

Barry

Simmonds

2023

Semin Respir Crit Care Med

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Cystic fibrosis year in review 2022

Kim,

Lyman,

Savant

2023

Pediatric Pulmonology

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Remarkable medical advancements have been made for people with cystic fibrosis (CF) in recent years, with an abundance of research continuing to be conducted worldwide. With concern for limitations in access to highly effective CFTR modulators, as well as the recent Coronavirus Disease‐19 pandemic, there has been a consistent effort to understand and improve CF screening, disease burden, diagnosis, and management. Our aim in this review is to present articles from 2022 with an emphasis on clinically relevant studies. We hope this will serve as a broad overview of the research published in the past year.

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European guidelines for the diagnosis and treatment of pancreatic exocrine insufficiency: UEG, EPC, EDS, ESPEN, ESPGHAN, ESDO, and ESPCG evidence‐based recommendations

Dominguez‐Muñoz,

Vujasinovic,

de la Iglesia

et al. 2024

UEG Journal

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Pancreatic exocrine insufficiency (PEI) is defined as a reduction in pancreatic exocrine secretion below the level that allows the normal digestion of nutrients. Pancreatic disease and surgery are the main causes of PEI. However, other conditions and upper gastrointestinal surgery can also affect the digestive function of the pancreas. PEI can cause symptoms of nutritional malabsorption and deficiencies, which affect the quality of life and increase morbidity and mortality. These guidelines were developed following the United European Gastroenterology framework for the development of high‐quality clinical guidelines. After a systematic literature review, the evidence was evaluated according to the Oxford Center for Evidence‐Based Medicine and the Grading of Recommendations Assessment, Development, and Evaluation methodology, as appropriate. Statements and comments were developed by the working groups and voted on using the Delphi method. The diagnosis of PEI should be based on a global assessment of symptoms, nutritional status, and a pancreatic secretion test. Pancreatic enzyme replacement therapy (PERT), together with dietary advice and support, are the cornerstones of PEI therapy. PERT is indicated in patients with PEI that is secondary to pancreatic disease, pancreatic surgery, or other metabolic or gastroenterological conditions. Specific recommendations concerning the management of PEI under various clinical conditions are provided based on evidence and expert opinions. This evidence‐based guideline summarizes the prevalence, clinical impact, and general diagnostic and therapeutic approaches for PEI, as well as the specifics of PEI in different clinical conditions. Finally, the unmet needs for future research are discussed.

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ECFS standards of care on CFTR-related disorders: Updated diagnostic criteria

Cited by 35 publications

References 141 publications

Diagnosing Cystic Fibrosis in Adults

Diagnosing Cystic Fibrosis in Adults

Cystic fibrosis year in review 2022

European guidelines for the diagnosis and treatment of pancreatic exocrine insufficiency: UEG, EPC, EDS, ESPEN, ESPGHAN, ESDO, and ESPCG evidence‐based recommendations

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