P449 - RETROSPECTIVE CASE COLLECTION OF PATIENTS WITH SHORT BOWEL SYNDROME AND CFTR-RELATED DISORDERS

P449

RETROSPECTIVE CASE COLLECTION OF PATIENTS WITH SHORT BOWEL SYNDROME AND CFTR-RELATED DISORDERS

A.-S. Lion¹, F. Vandamme¹, D. Seguy^2,*

¹CHU Lille, ²Université de Lille, Lille, France

Rationale: Cystic fibrosis transmembrane conductance regulator-related disorders (CFTR-RDs) differ from cystic fibrosis (CF) in their late onset (adolescence, or adulthood), unpredictable progression, intermediate (sweat chloride 30–59 mmol/L) or negative (<30 mmol/L) sweat test (ST) results, and the presence of only one or no identifiable CFTR gene variant. The objective was: i. to compile cases of SBS patients diagnosed with CFTR-RD; and ii. to provide literature-based evidence supporting the hypothesis that the risk of SBS is increased in patients with CFTR-RD.

Methods: This retrospective study included adult SBS patients followed in our approved home parenteral nutrition (HPN) center between 2005 and 2023. Anamnestic, clinical, biological data and results of ST from patients with ST ≥30 mmol/L were collected for analysis.

Results: Data of 8 patients (4 F) aged (median age [range]) 51[36–72] yr, BMI 24.7[15.7–28.0] at the time of ST and residual small bowel length 120[30–150] cm were collected. The indications for ST were: pancreatopathy in all patients (including 6 acute pancreatitis leading to SBS), 5 pre-existing diabetes, 4 chronic rhinosinusitis or 1 bronchiectasis. ST was positive in 3 patients and intermediate in 5.

Conclusion: Given the low incidence of SBS, the presence of 8 SBS cases with CFTR-RD among a median active file of 100 patients/yr is unlikely to be coincidental. Literature supports this hypothesis. Meconium ileus is often the earliest manifestation of CF in newborns due to more viscous mucus that affects digestive contractility and increases the fluid content of the small bowel. This also promotes the precipitation of enzymes in pancreatic ducts and thus pancreatitis which, like any acute abdominal condition, can trigger secondary ileus which worsens fluid retention and leads to bowel ischemia. It should be relevant to organize such patients screening within other HPN centers.

Disclosure of Interest: None declared