Familial Adenomatous Polyposis Due To 5q22 2 Microdeletion C5548205
A chromosomal deletion causing multiple colon polyps similar to FAP. Individuals with this deletion need regular screening and usually require surgical removal of the colon to prevent cancer.
Key facts at a glance
- ICD-10
- D13.91
- ICD-11
- 3A00.0
- Body system
- gastrointestinal
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Gastrointestinal perforation
Abdominal pain or nausea
(gastrointestinal)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Mucous in stool
(gastrointestinal)Abdominal pain
(gastrointestinal)Nausea
(gastrointestinal)Diagnosis and tests
How this condition is diagnosed and what test results mean.
Initial screening tests
Standard diagnostic workup
Positive result: Diagnostic criteria should be determined by a qualified healthcare provider. [Content pending medical review.]
Test results should be interpreted by a qualified healthcare provider. [Content pending medical review.]
Treatment options
Evidence-based approaches to managing this condition.
First-line treatments
Elective colectomy timing based on microdeletion syndrome
5q22.2 microdeletion FAP variant requires personalized surgical planning accounting for potential developmental comorbidities and associated anomalies. Collaboration between genetics and surgery is essential.
GI disease management
Active treatment with regular monitoring by a healthcare provider is recommended.
Multisystem surveillance for microdeletion phenotype
Beyond standard FAP monitoring, surveillance for associated features including developmental delay, seizures, and structural brain anomalies that may accompany the 5q22.2 microdeletion.
Additional treatment options
Aspirin chemoprevention
Low-dose aspirin provides NSAID-based chemoprevention with manageable side effect profile, appropriate for long-term use in this typically younger patient population with microdeletion-associated FAP.
medicationNeurodevelopmental support services
Integrated psychological and developmental support addressing cognitive profile, school accommodations, and family adjustment to complex genetic condition with multiple healthcare needs.
psychologicalCapsule endoscopy for small bowel surveillance
Video capsule endoscopy evaluates small bowel polyps beyond reach of standard upper endoscopy. Important for FAP variants with extensive small bowel polyp involvement.
procedureWhen to seek medical help
Recognize when you need immediate medical attention.
See a doctor within 24 hours
Moderate to severe symptoms that may indicate worsening of this condition. Prompt medical evaluation is recommended.
Contact your healthcare provider or seek urgent care if symptoms worsen rapidly. Go to the emergency department for life-threatening symptoms.
Frequently asked questions
Common questions about this topic.
What is Familial Adenomatous Polyposis Due To 5q22 2 Microdeletion C5548205?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalMedication Comparisons
Compare medications used to treat Familial Adenomatous Polyposis Due To 5q22 2 Microdeletion C5548205. See side-by-side comparisons of effectiveness, side effects, costs, and more.
View Medication ComparisonsThis information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.
This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.
If you think you may have a medical emergency, call your local emergency number or go to the nearest emergency department immediately.
Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy