Gardner Syndrome
Gardner Syndrome
A rare variant of Familial Adenomatous Polyposis (FAP) characterized by colonic polyposis and various extracolonic manifestations.
Key Points
- Variant of FAP with APC gene mutation
- Nearly 100% risk of colorectal cancer if untreated
- Manifests in early teens to twenties
- Autosomal dominant inheritance
- Requires lifelong surveillance
Clinical Manifestations
Gastrointestinal Features
- Colorectal polyps:
- Hundreds to thousands of adenomas
- Develops by teens or early 20s
- Throughout entire colon and rectum
- Variable size and morphology
- Upper GI manifestations:
- Gastric fundic gland polyps
- Duodenal adenomas
- Periampullary tumors
Extracolonic Features
- Soft tissue tumors:
- Desmoid tumors (80% risk)
- Epidermoid cysts
- Lipomas
- Fibromas
- Skeletal manifestations:
- Osteomas (skull, mandible)
- Dental abnormalities
- Supernumerary teeth
- Odontomas
- Ocular findings:
- Congenital hypertrophy of retinal pigment epithelium (CHRPE)
- Multiple bilateral lesions
Additional Features
- Thyroid abnormalities
- Adrenal masses
- Brain tumors (Turcot syndrome variant)
- Hepatoblastoma risk in children
Diagnostic Approach & Screening
Initial Evaluation
- Family history assessment
- Physical examination:
- Soft tissue masses
- Dental examination
- Skeletal assessment
- Skin examination
- Genetic testing:
- APC gene mutation analysis
- Multigene panel testing
- Family mutation testing
Endoscopic Evaluation
- Colonoscopy:
- Starting age 10-12 years
- Annual frequency
- Polyp count and distribution
- Upper endoscopy:
- Starting age 20-25 years
- Duodenal staging
- Ampullary assessment
Imaging Studies
- Baseline studies:
- Panoramic dental X-rays
- Skull radiographs
- Abdominal/pelvic CT/MRI
- Specialized imaging:
- Retinal examination
- Thyroid ultrasound
- Small bowel imaging
Management Strategies
Surgical Management
- Colorectal surgery:
- Total proctocolectomy
- Ileal pouch-anal anastomosis
- Timing considerations
- Quality of life impact
- Desmoid tumor management:
- Surgical excision
- Risk of recurrence
- Site-specific approach
Medical Management
- Chemoprevention:
- NSAIDs/COX-2 inhibitors
- Duodenal adenoma management
- Desmoid tumor therapy
- Supportive care:
- Nutritional support
- Pain management
- Psychological support
Surveillance Protocol
- Regular endoscopic monitoring
- Annual physical examination
- Imaging follow-up
- Family screening
- Long-term complications monitoring
Genetics & Surveillance
Genetic Basis
- APC gene mutations:
- Chromosome 5q21-q22
- Genotype-phenotype correlations
- Mutation hotspots
- Inheritance pattern:
- Autosomal dominant
- 50% transmission risk
- Variable expressivity
Surveillance Guidelines
- Pediatric screening:
- Annual colonoscopy from age 10-12
- Hepatoblastoma screening in infants
- Dental/orthodontic monitoring
- Adult screening:
- Upper endoscopy every 1-3 years
- Thyroid ultrasound
- Desmoid monitoring
- Annual physical examination
Family Planning
- Genetic counseling:
- Preimplantation genetic testing
- Prenatal testing options
- Family planning decisions
- Family screening:
- First-degree relatives
- Age-appropriate testing
- Predictive testing
