From the Guidelines
The management and treatment of Gardner syndrome should prioritize a multidisciplinary approach, focusing on surgical interventions, surveillance, and supportive care, with an emphasis on preventing colorectal cancer and managing desmoid tumors, as recommended by recent guidelines 1.
Key Considerations
- The primary treatment for Gardner syndrome involves prophylactic colectomy, typically total proctocolectomy with ileal pouch-anal anastomosis, to prevent colorectal cancer, which should be performed when numerous adenomatous polyps develop or by age 20-25 1.
- Regular endoscopic surveillance is essential, including annual colonoscopy beginning at age 10-12 until colectomy is performed, and upper endoscopy every 1-3 years to monitor for duodenal and periampullary adenomas.
- For desmoid tumors, which occur in 10-30% of patients, treatment options include surgical excision, though recurrence is common, or medical management with NSAIDs like sulindac (150-200 mg twice daily) and COX-2 inhibitors, with more aggressive cases requiring chemotherapy, tyrosine kinase inhibitors, or radiation therapy 1.
Management of Desmoid Tumors
- Active surveillance with regular MRI scans and clinical review is the first step in management, with referral to dedicated pain service, physiotherapy, and psychological support also considered in parallel 1.
- Treatment choices may be influenced by anatomic site of disease and involvement of critical sites, with medical therapy being the standard treatment for progressing cases following an initial period of observation.
- Systemic treatment options include sorafenib, pegylated liposomal doxorubicin, pazopanib, and low-dose chemotherapy, with nirogacestat, a γ-Secretase Inhibitor, recently shown to be beneficial in terms of progression-free survival and symptom control 1.
Genetic Counseling and Screening
- Genetic counseling is crucial for patients and families, as Gardner syndrome is inherited in an autosomal dominant pattern with nearly 100% penetrance.
- Regular screening of family members and genetic testing for APC gene mutations allows for early detection and intervention, significantly improving outcomes by preventing malignant transformation of polyps into colorectal cancer.
From the Research
Management and Treatment of Gardner Syndrome
The management and treatment of Gardner syndrome involve a combination of surgical and medical approaches to prevent the development of colorectal cancer and manage extracolonic manifestations. Some key aspects of management and treatment include:
- Prophylactic colectomy, which is the only effective treatment to prevent colorectal cancer 2, 3
- Restorative proctocolectomy with ileal pouch anal anastomosis (RPC/IPAA) with mucosectomy, which is the preferred surgical procedure 3, 4
- Regular surveillance with colonoscopies and duodenoscopies to detect and remove polyps and prevent the development of cancer 2, 3, 5
- Management of extracolonic manifestations, such as osteomas, soft tissue tumors, and desmoid tumors 3, 5, 6
- Genetic testing and counseling to identify high-risk individuals and provide early diagnosis and treatment 2, 3, 6
Surgical Options
Surgical options for Gardner syndrome include:
- Total colectomy with colorectal mucosectomy 2
- Restorative proctocolectomy with ileal pouch anal anastomosis (RPC/IPAA) with mucosectomy 3, 4
- Ileostomy and ileostomy closure operation 4
- Snare polypectomy for gastric polyposis 4
Medical Management
Medical management of Gardner syndrome may include:
- Oral traditional Chinese medicine pills made of Fructus mume and Bombyx batryticatu to improve innutrition and anaemia 4
- Regular follow-up with gastroscopy and colonoscopy to monitor for polyps and cancer 4, 5
Importance of Early Diagnosis
Early diagnosis of Gardner syndrome is crucial to prevent the development of colorectal cancer and manage extracolonic manifestations. Dentists can play an essential role in early diagnosis by detecting multiple unerupted teeth, osteomas, and cutaneous lesions 5. Regular surveillance and genetic testing can help identify high-risk individuals and provide early diagnosis and treatment 2, 3, 6