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ROLE OF UNKNOWN SIGNIFICANCE (VUS) AND NON-DISEASE-CAUSING (NDC) CFTR GENE MUTATIONS IN THE PATHOGENESIS OF ACUTE PANCREATITIS

Federico Caldart 1, Giovanni Pernigo 1, Francesco Taus 2, Lorena Torroni 2, Giulia di Marchi 1, Antonio Amodio 1, Nicolò de Pretis 1, Giuseppe Verlato 2, Luca Frulloni 1

Affiliations

1 University of Verona, Gastroenterology B Unit, Pancreas Center, Verona, Italy

2 University of Verona, Department of Diagnostics and Public Health, Verona, Italy

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Abstract

Introduction

Acute pancreatitis (AP) can be associated with CFTR gene mutations. Several mutations have been described and classified based on the type of protein changes. The CFTR-France database classifies variants in disease-causing (DC), variants of unknown significance (VUS) and no-disease-causing (NDC), according to their clinical consequences. The role of VUS and NDC mutations in AP patients was not clearly defined.

Aims & Methods

The aim of this study is to determine the role of VUS and NDC mutations in patients suffering from AP. We enrolled retrospectively patients with AP observed in our Centre between 2013 and 2020 and tested for CFTR gene mutations. Patients were divided in CFTR wild type, DC, VUS and NDC. We evaluated epidemiological, clinical, and instrumental characteristics at the disease onset and the clinical outcome in terms of progression to chronic pancreatitis, onset of pancreatic calcifications, development of exocrine and endocrine pancreatic insufficiency.

Results

We tested 322 patients (199 males and 123 females, age at onset 35.4±15.8 years). We compared 99 patients with CFTR mutations (65 males and 34 females, age at onset 29±13 years) with 223 wild type patients (134 males and 89 females, age at onset 38.2±15.7 years), showing significant differences in terms of age at onset, BMI, smoking and drinking habits, chronic pancreatitis, and pancreatic calcifications at the onset of the disease. The clinical course of the wild type patients was characterized by an earlier progression to chronic pancreatitis, onset of calcifications and exocrine pancreatic insufficiency. VUS and DC patients had a similar clinical outcome of the disease. NDC group was excluded from the analysis due to the low number of patients.

Conclusion

Patients carrying VUS mutations of the CFTR gene have a clinical outcome similar to patients carrying DC mutations.

Conference

UEG Week Copenhagen 2023

Topics

Pancreas

Submission format

Abstract

Session

PP 08 Pancreas (Posters)

Citation

United European Gastroenterology Journal 2023; 11 (Supplement 8)

Published

2023

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ROLE AND MECHANISM OF PDLIM2 GENE MUTATION IN PROMOTING HYPERTRIGLYCERIDEMIA ACUTE PANCREATITIS

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