Fact-sheet: Familial adenomatous polyposis
Updated on 09/27/2024 at 12:50 PM
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Definition
Familial adenomatous polyposis is characterized by the development of colonic and rectal adenomas during the 2nd decade of life.
- Classic form linked to mutations in the APC gene (5q21-q22), associated with Gardner syndrome
- Form linked to mutation in the MUTYH gene (1p34.1)
Clinical features
Patients asymptomatic for years
then rectal bleeding, anemia, constipation or diarrhea, abdominal pain, palpable abdominal masses, and weight loss
then malignant transformation, generally about ten years after the appearance of the polyps.
Extra-intestinal manifestations associated with Gardner syndrome
Association with medulloblastoma: Turcot syndrome
Less aggressive form: attenuated FAP = fewer colorectal adenomatous polyps (generally 10 to 100), later onset, and lower risk of cancer.
Management
Colonoscopy
Genetic diagnosis
Prophylactic surgery for colorectal carcinoma