Treatment of 22q11.2 Deletion Syndrome with Constipation in Adults

Clinical Scenario

Adults with 22q11.2 deletion syndrome are at recognised risk for gastrointestinal complications. Constipation is among the common GI presentations in this population, requiring structured clinical assessment and management.

Constipation in This Population

Gastrointestinal issues — including constipation — are a well-documented feature of 22q11.2 deletion syndrome in adults. Clinical evaluation should take into account the patient's full medication profile and comorbid conditions when addressing constipation in this context.

Treatment Approach

Management centres on dietary interventions as the primary approach. For patients receiving clozapine, additional prophylactic measures are also part of the regimen. The full evidence-based protocol — including specific interventions and patient selection criteria — is available via the link below.

Instant Access to Structured Evidence-Based Regimens

References

DOI: 10.1016/j.gim.2022.11.012

Common gastrointestinal (GI) issues include constipation, dysphagia, easy gagging/vomiting, and gastro-esophageal reflux disease, with cholelithiasis and fatty liver in a substantial minority.

Dietary interventions are a mainstay, with prophylactic laxatives suggested for patients taking clozapine.

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