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Anorectal Dysfunction in Systemic Sclerosis: Clinical Phenotypes and Functional Patterns
Timothy Kaniecki1, Alireza Amindarolzarbi2, Tsion Abdi1
1Johns Hopkins University, Baltimore, Maryland.
Anorectal dysfunction is common in systemic sclerosis (SSc) and linked to neuromuscular issues. Specific autoantibodies and longer disease duration correlate with these manometry abnormalities.
Area of Science:
- Gastroenterology
- Rheumatology
- Clinical Physiology
Background:
- Systemic sclerosis (SSc) frequently causes gastrointestinal (GI) issues.
- Anorectal dysfunction is a recognized complication, but its specific physiologic defects and associations require further characterization.
Purpose of the Study:
- To detail anorectal dysfunction in SSc using anorectal manometry (ARM).
- To link ARM findings with clinical SSc phenotypes and serologic markers.
- To explore potential risk stratification markers.
Main Methods:
- Retrospective analysis of 50 SSc patients undergoing ARM (2011-2022).
- Evaluation of clinical, serologic, and ARM data, including resting/squeeze pressures, sensation, and rectoanal inhibitory reflex (RAIR).
- Assessment of GI symptom burden using UCLA SCTC GIT 2.0.
Main Results:
- Anorectal dysfunction was prevalent, with 60% showing hypotensive resting pressures and 92% abnormal RAIR.
- Hypotensive pressures correlated with longer disease duration and higher FVC.
- Dual anti-centromere and Ro52 antibody positivity associated with hypotensive resting pressures.
Conclusions:
- Anorectal dysfunction is common in SSc, suggesting neuromuscular involvement.
- ARM abnormalities correlate with disease duration and specific autoantibodies (anti-centromere, Ro52).
- Absent RAIR may be a key feature of SSc-related anorectal dysfunction, supporting a neurogenic mechanism.
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