Management of Inherited Polyposis Syndromes

Publication Date: September 1, 2017
Last Updated: March 14, 2022

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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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Recommendation Grading

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Overview

Title

Management of Inherited Polyposis Syndromes

Authoring Organization

Publication Month/Year

September 1, 2017

Last Updated Month/Year

August 3, 2023

Document Type

Guideline

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