adenomatous polyposis coli (APC); familial adenomatous polyposis (FAP)
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Introduction
A rare familial disorder characterized by development of large numbers (thousands) of colorectal adenomatous polyps & colorectal carcinoma by age 40.
- > 100 colon polyps with multiple biopsies confirming tubular adenoma[10]
Epidemiology
- prevalence 1 in 10,000[2]
Genetics
- autosomal dominant
- aberration of APC gene on chromosome 5q21-22
- autosomal recessive
Clinical manifestations
- intestinal manifestations:
- adenomatous polyps involving the colon & rarely terminal ileum & proximal small bowel
- upper GI polyps develop 10 years after colonic polyps
- duodenal ampullary carcinoma
- gastric polyps, gastric cancer
- adenomas of the gallbladder (rare)
- extra-GI manifestations (also see Gardner's syndrome)
- benign
- mandibular osteomas
- supernumerary teeth
- hypertrophy of retinal pigment epithelium
- desmoid tumors
- epidermoid cysts, sebaceous cysts
- malignant
- benign
Laboratory
Diagnostic procedures
- colonoscopy
- upper endoscopy every 1-5 years after colectomy to identify adenomatous polyps of the small intestine & rule out ampullary carcinoma[2][7]
Complications
- > 95% develop colorectal cancer
- patients at increased risk of extra-colonic cancers
Differential diagnosis
Management
- screening of family members
- annual flexible sigmoidoscopy age 12-40[2]
- colectomy before development of colorectal carcinoma
- upper endoscopy every 1-5 years to identify adenomatous polyps of the small intestine & rule out ampullary carcinoma[2][7]
- non-steroidal anti-inflammatory agents (NSAIDs)
- may induce regression of colorectal polyps
- unclear whether they may delay the need for colectomy
- sulindac 75-100 mg BID has no effect on development of polyps[4]
- sulindac + erlotinib reduces colorectal polyp burden in patients with familial adenomatous polyposis[8]
More general terms
More specific terms
Additional terms
- A/G-specific adenine DNA glycosylase; mutY homolog; hMYH (MUTYH, MYH)
- adenocarcinoma of the colon &/or rectum
- APC gene mutation
- familial adenomatous polyposis [FAP] gene
References
- ↑ Mayo Internal Medicine Board Review, 1998-99, Prakash UBS (ed) Lippincott-Raven, Philadelphia, 1998, pg 171, 309
- ↑ 2.0 2.1 2.2 2.3 2.4 Medical Knowledge Self Assessment Program (MKSAP) 11, 15, 16, 17, 18, 19. American College of Physicians, Philadelphia 1998, 2009, 2012, 2015, 2018, 2021.
- ↑ Journal Watch 20(15):118, 2000 Steinbach G et al The effect of celecoxib, a cyclooxygenase-2 inhibitor, in familial adenomatous polyposis. N Engl J Med 342:1946, 2000 PMID: https://www.ncbi.nlm.nih.gov/pubmed/10874062
- ↑ 4.0 4.1 Journal Watch 22(9):69, 2002 Giardiello FM et al Primary chemoprevention of familial adenomatous polyposis with sulindac. N Engl J Med 346:1054, 2002 PMID: https://www.ncbi.nlm.nih.gov/pubmed/11932472
Chau I & Cunningham D, Cyclooxygenase inhibition in cancer--a blind alley or a new therapeutic reality? N Engl J Med 346:1085, 2002 PMID: https://www.ncbi.nlm.nih.gov/pubmed/11932478 - ↑ UpToDate 14.1 http://www.utdol.com
- ↑ Hegde M, Ferber M, Mao R et al ACMG technical standards and guidelines for genetic testing for inherited colorectal cancer (Lynch syndrome, familial adenomatous polyposis, and MYH-associated polyposis). Genet Med. 2014 Jan;16(1):101-16. PMID: https://www.ncbi.nlm.nih.gov/pubmed/24310308
- ↑ 7.0 7.1 7.2 Vasen HF, Maslein G, Alonso A et al Guidelines for the clinical management of familial adenomatous polyposis (FAP). Gut. 2008 May;57(5):704-13. PMID: https://www.ncbi.nlm.nih.gov/pubmed/18194984
- ↑ 8.0 8.1 Boggs W Sulindac-erlotinib Limits Polyp Burden in Familial Adenomatous Polyposis. Medscape - Feb 13, 2018. https://www.medscape.com/viewarticle/892604
Samadder NJ, Kuwada SK, Boucher KM et al Association of Sulindac and Erlotinib vs Placebo With Colorectal Neoplasia in Familial Adenomatous Polyposis: Secondary Analysis of a Randomized Clinical Trial. JAMA Oncol. 2018 Feb 8. [Epub ahead of print] PMID: https://www.ncbi.nlm.nih.gov/pubmed/29423501 - ↑ ARUP Consult: Familial Adenomatous Polyposis and MUTYH-Associated Polyposis https://arupconsult.com/ati/familial-adenomatous-polyposis-and-mutyh-associated-polyposis
- ↑ 10.0 10.1 NEJM Knowledge+
Patient information
adenomatous polyposis coli patient information