# Gastrointestinal Involvement in Muckle-Wells Syndrome: A Systematic Review of Clinical Presentation, Diagnostic Patterns, and Therapeutic Response

## TL;DR

This paper reviews how gastrointestinal symptoms in Muckle-Wells syndrome are underrecognized and need more attention in diagnosis and treatment.

## Contribution

The study systematically reviews GI involvement in Muckle-Wells syndrome, highlighting its clinical relevance despite being overlooked.

## Key findings

- Gastrointestinal symptoms like abdominal pain occur in up to one-third of childhood-onset Muckle-Wells syndrome cases.
- IL-1 blockade therapies show systemic improvement but GI outcomes remain inconsistently reported.
- The review emphasizes the need to include GI symptoms in diagnostic and therapeutic approaches for MWS.

## Abstract

Muckle-Wells syndrome (MWS), a rare autoinflammatory disorder within the cryopyrin-associated periodic syndrome (CAPS) spectrum, is primarily characterized by recurrent fevers, urticarial rash, sensorineural hearing loss, and risk of amyloidosis. Although systemic manifestations are well-documented, gastrointestinal (GI) symptoms remain underrecognized and poorly described. This systematic review explores the prevalence, diagnostic relevance, and treatment response of GI manifestations in MWS. A structured search strategy was employed using major databases, and studies were included if they involved patients with genetically or clinically confirmed MWS and reported GI symptoms such as abdominal pain or oral ulcers. A total of three studies met the inclusion criteria, including two observational cohorts and one case report. Abdominal pain was noted in up to one-third of patients with childhood-onset disease and recurrently in a confirmed case. While IL-1 blockade with anakinra or canakinumab demonstrated overall systemic improvement, GI outcomes were not consistently reported. These findings suggest that gastrointestinal involvement, though infrequently highlighted, may be clinically significant and should be integrated into diagnostic and therapeutic frameworks for MWS.