O029 - CHRONIC INTESTINAL PSEUDO-OBSTRUCTION: THE IMPACT OF GENETIC ANDHISTOLOGICAL ANALYSES ON IMPROVING PATIENT DIAGNOSIS, PROGNOSIS, ANDTREATMENT STRATEGIES

O029

CHRONIC INTESTINAL PSEUDO-OBSTRUCTION: THE IMPACT OF GENETIC AND

HISTOLOGICAL ANALYSES ON IMPROVING PATIENT DIAGNOSIS, PROGNOSIS, AND

TREATMENT STRATEGIES

M.-C. Ta^1,*, D. Cazals-Hatem¹, L. Billiauws¹, A. Amiot², M. Bellaiche³, D. Berrebi³, B. Coffin⁴, O. Corcos¹, E. Ecochard-Dugelay³, O. Goulet⁵, F. Lacaille⁵, C. Lambe⁵, Y. Nadjar⁶, J. Rendu⁷, C. Talbotec⁵, F. Charbit-Henrion⁵, F. Joly¹

¹Beaujon Hospital, Clichy, ²Bicêtre Hospital, Kremlin-Bicêtre, ³Robert Debré Hospital, Paris, ⁴Louis Mourier Hospital, Colombes, ⁵Necker Hospital, ⁶Pitié-Salpêtrière Hospital, Paris, ⁷Grenoble University Hospital, Grenoble, France

Rationale: Chronic Intestinal Pseudo-Obstruction (CIPO) represents significant challenges in terms of diagnosis and management. Little is known about the contribution of genetics and histopathology in a large adult population. The aim of this study was to assess whether these methods could provide valuable information for diagnosis and management.

Methods: Data from 130 patients with CIPO followed in the Gastroenterology Department of Beaujon Hospital (Clichy, France) between January 1, 2007 and December 1, 2023 were analyzed. Genetic testing and histological analyses were performed in 112 and 96 patients, respectively.

Results: Our cohort included 55 males and 75 females, aged 19 to 74 years. The use of genetics and histopathology characterized 82% of the patients (genetic diagnosis: n=65/112, 58%; histological diagnosis: n=73/96, 76%). Combining clinical, genetic and histological data allowed classifying all patients into six groups with distinct clinical characteristics, histopathological patterns, therapeutic responses, and prognoses: Monogenic Myopathy (n=42, 32%); Mitochondriopathy (n=19, 15%); Unspecified Myopathy (n=26, 20%); Autoimmune Myopathy (n=8, 6%); Neuropathy (n=9, 7%); and Others (n=26, 20%). Patients in the monogenic myopathy group showed favorable survival in adulthood (hazard ratio: 0.02, 95% CI: 0.00-0.11; p<0.001) and significant improvement rates after enterectomy (odds ratio: 23.16; 95% CI: 4.20-435.06; p=0.0033). Patients with an ACTG2 mutation (n=29) required earlier initiation of long-term parenteral nutrition but showed higher survival rates in adulthood than other patients. 

Conclusion: This study highlighted the importance of genetics and histopathology in patients with suspected CIPO, as the results improve diagnostic and decision-making processes.

Disclosure of Interest: None declared