Gardner’s Syndrome USMLE Notes & Mnemonics contains all the high-yield points you need to know.
Definition:
- Gardner’s Syndrome: A variant of familial adenomatous polyposis (FAP), characterized by the presence of multiple colorectal polyps, osteomas, and soft tissue tumors.
Genetics:
- Autosomal Dominant disorder.
- Caused by mutations in the APC gene.
Pathophysiology:
- The mutation leads to the development of numerous polyps in the colon and rectum, increasing the risk of colorectal cancer.
Clinical Features:
- Colorectal Polyps: Numerous, often developing into colorectal cancer if untreated.
- Osteomas: Benign bone growths, commonly in the skull, mandible, and long bones.
- Soft Tissue Tumors: Desmoid tumors, epidermoid cysts.
- Dental Abnormalities: Impacted or supernumerary teeth.
- Other Cancers: Increased risk of other cancers, including duodenal and thyroid cancer.
Diagnosis:
- Colonoscopy: To detect and monitor colorectal polyps.
- Genetic Testing: For APC gene mutations.
- Radiographs: To identify osteomas.
- Endoscopy: For gastric and duodenal polyps.
Management:
- Prophylactic Colectomy: Often necessary due to high risk of colorectal cancer.
- Regular Surveillance: Colonoscopy, endoscopy, and imaging for osteomas and soft tissue tumors.
- Management of Extracolonic Manifestations: As required based on symptoms.
Prognosis:
- With proper management, the prognosis can be good, but there is a significant risk of colorectal cancer without colectomy. (Ref)
Mnemonic: “GARDNER’S”
- Genetic (APC gene)
- Adenomatous polyps
- Risk of colorectal cancer
- Desmoid tumors
- Numerous osteomas
- Epidermoid cysts
- Radiographic findings (osteomas)
- Supernumerary teeth
Chart: Features of Gardner’s Syndrome
| Feature | Gardner’s Syndrome Manifestation |
|---|---|
| Colorectal Polyps | Numerous, risk of malignancy |
| Osteomas | Skull, mandible, long bones |
| Soft Tissue Tumors | Desmoid tumors, epidermoid cysts |
| Dental Abnormalities | Supernumerary, impacted teeth |
| Cancer Risk | Colorectal, duodenal, thyroid cancers |
Note: On the USMLE, Gardner’s syndrome may be presented as a case of a patient with a family history of colorectal cancer and multiple extracolonic manifestations like osteomas or dental abnormalities. Recognizing the genetic basis and cancer risk, along with the need for early and aggressive colorectal screening and management, is essential.
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