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Gastrointestinal Involvement in Muckle-Wells Syndrome: A Systematic Review of Clinical Presentation, Diagnostic
Aliaa H Alkhazendar1, Fnu Soxi2, Qasim Zia3
1Surgery, Islamic University of Gaza, Gaza, PSE.
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.
Insights
Gastrointestinal symptoms in Muckle-Wells syndrome (MWS) are underrecognized. This review highlights their potential significance and need for integration into MWS diagnosis and treatment.
Area of Science:
- Immunology
- Gastroenterology
- Genetics
Background:
- Muckle-Wells syndrome (MWS) is a rare autoinflammatory disorder within the cryopyrin-associated periodic syndrome (CAPS) spectrum.
- Systemic symptoms like fever, rash, and hearing loss are common, but gastrointestinal (GI) manifestations are poorly described.
- Understanding GI involvement is crucial for comprehensive MWS management.
Purpose of the Study:
- To systematically review the prevalence, diagnostic relevance, and treatment response of GI manifestations in Muckle-Wells syndrome.
- To assess the current understanding of GI symptoms in the MWS patient population.
Main Methods:
- A systematic literature search was conducted across major databases.
- Studies included patients with confirmed MWS (genetic or clinical) reporting GI symptoms.
- Data extraction focused on prevalence, characteristics, and treatment outcomes of GI symptoms.
Main Results:
- Three studies (2 cohorts, 1 case report) met inclusion criteria.
- Abdominal pain occurred in up to one-third of childhood-onset MWS patients.
- While IL-1 blockade improved systemic symptoms, specific GI outcomes were inconsistently reported.
Conclusions:
- Gastrointestinal involvement in MWS, though often overlooked, may be clinically significant.
- GI symptoms should be considered in the diagnostic and therapeutic approach to MWS.
- Further research is needed to fully elucidate GI manifestations and their response to treatment.
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