Management of Inherited Polyposis Syndromes
Publication Date: September 1, 2017
RECOMMENDATIONS
AFAP, “attenuated FAP”; FAP, familial adenomatosis polyposis; MAP, MYH-associated polyposis
Screening and Genetic Testing for Adenomatous Polyposis Syndromes
Polyposis syndromes should typically be considered in patients with greater than 20 lifetime adenomas, patients with a personal history of desmoid tumor or other extracolonic manifestations of FAP, or family members of individuals with known FAP, AFAP, or MAP. (1C)
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Treatment for FAP
Treatment should include thorough counseling about the nature of the syndrome, its natural history, its extracolonic manifestations, and the need for compliance with recommendations for management and surveillance. (1C)
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Familial Screening for At-Risk Members
At-risk family members of a patient with an identified mutation are screened for the mutation. For children and those who decline genetic testing, endoscopic surveillance is recommended until either genetic testing is performed or a diagnosis is clear based on phenotype. At-risk family members who do not carry the mutation should have the same screening as the average-risk population. (1B)
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Surgical Treatment of FAP and AFAP
Proctocolectomy with ileostomy or IPAA is the treatment of choice for patients with a large number of rectal adenomas, but the optimal timing should be individualized. (1B)
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Total colectomy with ileorectal anastomosis (TAC-IRA) can be offered to patients with relative rectal sparing if all rectal adenomas >5 mm can be endoscopically removed. (1C)
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MYH-Associated Polyposis
The diagnosis of MAP should be considered in patients presenting with colorectal polyposis (>20 lifetime adenomas). (1C)
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Patients with biallelic MYH mutations need yearly colonoscopy and polypectomy, as long as the adenomas can be controlled endoscopically. Siblings or children of an affected individual need to be screened for the family mutations in MYH. Those who have not been tested should undergo colonoscopy every 2 years, starting at age 20. (2B)
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Timing and type of surgery in patients with a biallelic MYH mutation depend on the ability to maintain clearance of polyps, the rectal polyp count, and the presence of malignancy. (2C)
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Extraintestinal Manifestations
Screening for Duodenal Neoplasia
Screening for duodenal adenomas in individuals with FAP and AFAP should begin with a baseline esophagogastroduodenoscopy beginning at age 20 to 25, with subsequent examinations at intervals based on the endoscopic findings. (1B)
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Screening for Thyroid Disease
Screening for thyroid disease should be considered in patients with FAP with an annual ultrasound preferred over physical examination alone, especially for women. (2C)
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Extracolonic Manifestations of MAP
Upper GI endoscopy is recommended for patients beginning at age 30, with subsequent examinations at intervals based on the endoscopic findings. (2C)
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Surgery for Intra-abdominal Desmoid Tumors
Surgery for intra-abdominal desmoid tumors, in general, is not recommended and should typically be reserved for small, well-defined tumors when a clear margin can be obtained. (2B)
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Chemoprevention of Adenomas
Individuals with FAP, AFAP, or MAP with any retained rectum or established duodenal adenomas should be considered for chemoprevention with either sulindac or celecoxib after an individualized risk/benefit assessment. (2A)
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Surveillance and Treatment of Polyposis Without an Identified Gene Mutation
Patients with clinical polyposis, but without an identified mutation, should be treated and followed based on their phenotype. (2C)
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Title
Management of Inherited Polyposis Syndromes
Authoring Organization
American Society of Colon and Rectal Surgeons
Publication Month/Year
September 1, 2017
External Publication Status
Published
Country of Publication
US
Inclusion Criteria
Female, Male, Adolescent, Adult, Child, Older adult
Health Care Settings
Ambulatory, Hospital, Outpatient
Intended Users
Medical assistant, nurse, nurse practitioner, physician, physician assistant
Scope
Assessment and screening, Management, Treatment
Diseases/Conditions (MeSH)
D044483 - Intestinal Polyposis
Keywords
familial polyposis, desmoid, Inherited Polyposis
Source Citation
Herzig, Daniel M.D.; Hardimann, Karin M.D.; Weiser, Martin M.D.; Yu, Nancy M.D.; Paquette, Ian M.D.; Feingold, Daniel L. M.D.; Steele, Scott R. M.D. The American Society of Colon and Rectal Surgeons Clinical Practice Guidelines for the Management of Inherited Polyposis Syndromes, Diseases of the Colon & Rectum: September 2017 - Volume 60 - Issue 9 - p 881-894 doi: 10.1097/DCR.0000000000000912