Why Screen?
22q11.2 deletion syndrome patients have:
- 50-80× elevated lupus risk (established)
- 23-31% autoimmune disease prevalence (documented)
- Shared pathway vulnerability (TLR9/innate immunity)
These same pathways are implicated in IBD. Although 22q-IBD epidemiology is not yet established, the biological rationale for elevated risk is strong.
Baseline Assessment (All 22q Patients)
History Review
Ask at first visit:
| Question | Clinical Rationale |
|---|---|
| Chronic abdominal pain? | IBD symptom |
| Blood in stool? | IBD red flag |
| Frequent diarrhea (>3/day)? | IBD symptom |
| Unintended weight loss? | IBD symptom |
| Chronic constipation? | 22q-related dysmotility |
| Difficulty swallowing? | 22q-related |
| Reflux symptoms? | 22q-related |
| Family history of IBD? | Risk factor |
Baseline Labs (If Not Already Done)
| Test | Purpose |
|---|---|
| CBC | Anemia from GI blood loss |
| CMP | Nutritional status |
| Iron studies | GI absorption |
| Vitamin D | Often low in 22q, affects GI |
| ESR/CRP | Inflammation markers |
Consider Adding
| Test | Purpose | When |
|---|---|---|
| Fecal calprotectin | GI inflammation | If any GI symptoms |
| Celiac panel | Elevated in some 22q cohorts | If GI symptoms or failure to thrive |
Risk Stratification
Standard GI Risk
- No GI symptoms
- No family history of IBD
- Normal inflammatory markers
Monitoring: Annual symptom review
Elevated GI Risk (Any of the following)
Chronic abdominal pain
Unexplained diarrhea
Blood in stool (any amount)
Elevated fecal calprotectin
Positive autoantibodies (ANA, anti-dsDNA)
Family history of IBD
Already has another autoimmune disease
On immunosuppression
Monitoring: Enhanced surveillance (see below)
Monitoring Schedule
Standard Risk
| Timing | Action |
|---|---|
| Annual | Symptom review at routine visit |
| As needed | If new GI symptoms develop |
Elevated Risk
| Timing | Action |
|---|---|
| Every 6 months | Symptom review |
| Annually | Fecal calprotectin, inflammatory markers |
| As needed | Referral if symptoms worsen |
GI Symptom Review Checklist
Ask at every visit:
Abdominal
Pain (location, frequency, severity)
Bloating
Nausea/vomiting
Bowel Habits
Diarrhea (frequency, urgency)
Blood or mucus in stool
Constipation (22q-common)
Change from baseline
Systemic
Weight change
Fatigue beyond baseline
Joint pain (extra-intestinal IBD)
Skin rashes
Eye symptoms (uveitis)
When to Refer to GI
Urgent Referral
- Blood in stool (beyond anal fissure)
- Severe abdominal pain
- Significant weight loss (>5% unintended)
- Anemia with GI symptoms
Routine Referral
- Persistent diarrhea (>2 weeks)
- Elevated fecal calprotectin
- Chronic abdominal pain affecting quality of life
- Failure to thrive with GI symptoms
Special Considerations
Patients on HCQ (for Lupus Prevention)
Hydroxychloroquine inhibits TLR9, which may:
- Provide some GI protection
- Lower IBD risk (theoretical)
Action: Document GI symptom status before/after HCQ initiation
Patients with Serologically Positive Autoimmunity
ANA+ or anti-dsDNA+ without clinical disease:
- Higher autoimmune risk overall
- Enhanced GI surveillance warranted
Patients Already with IBD
If 22q patient has established IBD:
- Ensure GI knows about 22q diagnosis
- Monitor for lupus overlap
- Consider HCQ if not contraindicated
- May have atypical presentation
Documentation Template
22q11.2DS GI SURVEILLANCE
Visit Date: _______________
GI Risk Level: [ ] Standard [ ] Elevated
Reason for elevated (if applicable): _______________
Symptom Review:
- Abdominal pain: [ ] No [ ] Yes: _______________
- Diarrhea: [ ] No [ ] Yes: _______________
- Blood in stool: [ ] No [ ] Yes
- Weight change: [ ] Stable [ ] Loss: _____ [ ] Gain: _____
- Other GI: _______________
Labs (if obtained):
- Calprotectin: _______________
- ESR/CRP: _______________
- CBC: _______________
Assessment:
[ ] No concerns - continue standard monitoring
[ ] New symptoms - enhanced monitoring
[ ] Referral to GI: [ ] Routine [ ] Urgent
Plan: _______________
Next GI review: _______________
Key Messages for Patients/Families
Summary
- Screen all 22q patients for GI symptoms at each visit
- Risk stratify based on symptoms and autoimmune status
- Consider fecal calprotectin in symptomatic patients
- Refer to GI for persistent symptoms or red flags
- Document for longitudinal tracking
- HCQ may be protective - track outcomes
Important Note
This protocol is based on pathway analysis linking 22q, lupus, and IBD. The 22q-IBD epidemiological relationship has not yet been formally established. Clinical judgment should guide individual patient decisions.