Treatment algorithm

Please note that formulations/routes and doses may differ between drug names and brands, drug formularies, or locations. Treatment recommendations are specific to patient groups: see disclaimer

ACUTE

FAP: without colonic adenomas

1st line – surveillance colonoscopy

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ACUTE
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FAP: without colonic adenomas
1st line – 

surveillance colonoscopy

Patients with a family history of familial adenomatous (FAP) who are adenomatous polyposis coli (APC)-positive should undergo surveillance endoscopy to identify and/or monitor colonic adenomas.[9][24][30][37][38]​​

The National Comprehensive Cancer Network advises that colonoscopy should be offered starting from aged 10 to 15 years. Other guidance, including from the European Society for Paediatric Gastroenterology, Hepatology and Nutrition, recommends that this surveillance can begin slightly later, from age 12 onwards.[24][30][37]

Frequency of colonic surveillance is individualised depending on colonic phenotype, and is typically undertaken between every 1 and 3 years.[9][24]​​[37]​​​ The presence of alarm symptoms such as anaemia, rectal bleeding, increased bowel movements, and mucous discharge should prompt urgent colonoscopy for any patient, regardless of age or colonic phenotype.[24][37]

There is no single consensus for the absolute or relative indications for surgery. Surgery is generally recommended following detection of colonic adenomas, but timing must be individualised and depends on the distribution, size, and histology of colorectal polyps.[24][28]​​​

The American College of Gastroenterologists advise absolute indications for immediate colorectal surgery include documented or suspected colorectal cancer, or significant symptoms related to colonic neoplasia (e.g., gastrointestinal bleeding).[29]​ Relative indications for surgery include the presence of multiple adenomas >6 mm; a significant increase in adenoma number; the presence of adenoma with high-grade dysplasia; and the inability to adequately survey the colon due to multiple diminutive polyps.[29]​​

The European Hereditary Tumor Group and European Society of Coloproctology recommend indications for immediate colorectal surgery include certain or suspected cancer; severe symptoms from polyposis; severe disease (>1000 polyps identified at colonoscopy); and unfavourable histological features (e.g., villous adenoma).[37] Indications for planned surgery include polyp >10 mm in diameter; favourable histology features; substantial increase in polyp number between examinations; and sparse disease (100-1000 polyps).[37]

FAP: with colonic adenomas

1st line – total proctocolectomy with ileal pouch-anal anastomosis (IPAA)

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ACUTE
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FAP: with colonic adenomas
1st line – 

total proctocolectomy with ileal pouch-anal anastomosis (IPAA)

Prophylactic proctocolectomy with IPAA is the main means for preventing colorectal cancer in familial adenomatous polyposis (FAP).

There is no single consensus for the absolute or relative indications for surgery. Surgery is generally recommended following detection of colonic adenomas, but timing must be individualised and depends on the distribution, size, and histology of colorectal polyps.[24][28]​​​

Absolute indications for immediate colorectal surgery in patients include documented or suspected colorectal cancer; significant symptoms related to colonic neoplasia (e.g., gastrointestinal bleeding).[29]​ Relative indications for surgery include presence of multiple adenomas >6 mm; significant increase in adenoma number; presence of adenoma with high-grade dysplasia; inability to adequately survey the colon due to multiple diminutive polyps.[29]

The European Hereditary Tumor Group and European Society of Coloproctology recommend indications for immediate colorectal surgery include certain or suspected cancer; severe symptoms from polyposis; severe disease (>1000 polyps identified at colonoscopy); and unfavourable histological features (e.g., villous adenoma).[37] Indications for planned surgery include polyp >10 mm in diameter; favourable histology features; substantial increase in polyp number between examinations; and sparse disease (100-1000 polyps).[37]

IPAA is offered to patients with classical FAP; patients with attenuated FAP with numerous polyps resulting in carpeting of the rectum; those with curable rectal cancer complicating the polyposis; those who have previously undergone ileorectal anastomosis and now have an unstable rectum in terms of polyp number, size, or histology. The procedure is usually not offered to: patients with incurable cancer; those with an intra-abdominal desmoid that may interfere with the completion of surgery; those with anatomical, physiological, or pathological contraindications to an IPAA; where there is concern regarding the ability of patients to participate in close endoscopic surveillance following surgery.[9]

The advantages of total proctocolectomy with IPAA are that the risk of developing rectal cancer is negligible and a permanent stoma is not needed. The disadvantages are that it is a complex operation, a temporary stoma is usually needed, and there is a small risk of bladder or sexual dysfunction, and anal sphincter injury. Bowel function, although usually reasonable, is also somewhat unpredictable. Mucosectomy to maximise removal of rectal mucosa may be considered in IPAA.[39]

Hand-sewn or stapled IPAA techniques may be used. Retrospective data from a large, prospective, institutional genetic registry of patients with FAP showed that although stapled IPAA has a higher incidence of anal transitional zone polyps requiring treatment, compared with hand-sewn IPAA, the incidence of anal transitional zone adenocarcinoma was similar between the two groups.[41] The stapled anastomosis is associated with better long-term bowel function than a hand-sewn anastomosis. It is therefore the preferred technique for the surgical management of patients with FAP in some centres.[41]

There is evidence that laparoscopic IPAA is a feasible and safe procedure, although large, good-quality trials examining differences between laparoscopic and open approaches in terms of postoperative complications, cosmesis, quality of life, and costs are needed.[42][43][Figure caption and citation for the preceding image starts]: Brooke ileostomy in familial adenomatous polyposis: adenoma riskFrom the personal collection of Lisa A. Boardman, MD; used with permission [Citation ends].com.bmj.content.model.Caption@27cc6d31

Female patients should be counselled that IPAA is associated with an increase in infertility.[44]

All patients should be counselled that IPAA requires yearly endoscopic surveillance of the anal transitional zone and pouch to rule out polyp development and to minimise the risk of anal transitional zone cancer.[45]

Consider – chemoprevention

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ACUTE
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FAP: with colonic adenomas
Consider – 

chemoprevention

Additional treatment recommended for SOME patients in selected patient group

Chemoprevention may be considered as an adjunct in the management of retained rectum or ileal pouch in select patients following prophylactic surgery.[9][28]

Available data suggest that sulindac, a cyclo-oxygenase (COX)-1 and COX-2 inhibitor, is the most potent drug for polyp regression. However, it is not yet known whether decreases in polyp burden reduces colorectal cancer risk.[9][60]

Patients should be referred to expert centres for consideration of enrolment in a clinical trial if they are interested in chemoprevention. There are currently no approved drugs for this indication.

2nd line – total proctocolectomy with ileorectal anastomosis (IRA) or other alternative surgery

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ACUTE
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FAP: with colonic adenomas
2nd line – 

total proctocolectomy with ileorectal anastomosis (IRA) or other alternative surgery

Ileal pouch-anal anastomosis (IPAA) may not be possible in patients who have had previous pelvic surgery or who have shortening of the mesentery. Women of childbearing age may also choose IRA over IPAA until after childbearing (as IPAA is associated with an increase in fertility), when they can convert to IPAA.[45]​ If IPAA is not possible or is to be delayed, then IRA, continent ileostomy, or Brooke ileostomy can be performed.[Figure caption and citation for the preceding image starts]: Brooke ileostomy in familial adenomatous polyposis: adenoma riskFrom the personal collection of Lisa A. Boardman, MD; used with permission [Citation ends].com.bmj.content.model.Caption@37a45dd3

IRA is an option for patients with familial adenomatous polyposis (FAP) with few or no rectal adenomas.[12][28]​​​ Patients who have IRA have better continence and bowel function following surgery, compared with patients having IPAA.[49]

However, the retained rectal mucosa remains at risk from polyp formation, and patients must undergo close endoscopic observation of the remaining rectum. In one study, 13% of patients with FAP who underwent IRA developed rectal cancer a median of 10 years after surgery.[46] The risk of cancer development in the rectal stump rises considerably after age 50 years. If the rectum becomes unstable, a proctectomy with either an IPAA or end ileostomy is recommended.[9]

Consider – chemoprevention

Back
ACUTE
|
FAP: with colonic adenomas
Consider – 

chemoprevention

Additional treatment recommended for SOME patients in selected patient group

Chemoprevention may be considered as an adjunct in the management of retained rectum or ileal pouch in select patients following prophylactic surgery.[9][28]

Available data suggest that sulindac, a cyclo-oxygenase (COX)-1 and COX-2 inhibitor, is the most potent drug for polyp regression. However, it is not yet known whether decreases in polyp burden reduces colorectal cancer risk.[9][60]

Patients should be referred to expert centres for consideration of enrolment in a clinical trial if they are interested in chemoprevention. There are currently no approved drugs for this indication.

Plus – pharmacotherapy, radiotherapy, or surgery

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ACUTE
|
FAP: with colonic adenomas
|
with associated desmoid tumours
Plus – 

pharmacotherapy, radiotherapy, or surgery

Treatment recommended for ALL patients in selected patient group

Patients with familial adenomatous polyposis (FAP) and desmoid tumours should be referred to centres specialising in management of desmoid tumours.

Pharmacological therapy is usually the preferred initial approach.[28] Surgery can stimulate intra-abdominal desmoid tumour growth in patients with FAP and is only typically offered to symptomatic patients who do not respond to initial medical therapy.[28]

Available treatments include cyclo-oxygenase (COX)-2 inhibitors (e.g., celecoxib) or combined COX-1 and COX-2 inhibitors (e.g., sulindac), antiestrogens (e.g., tamoxifen), chemotherapy, radiotherapy, and surgery. Imatinib has been associated with both partial response and growth stabilisation, even in desmoids that do not have apparent mutations in the KIT tyrosine kinase oncogene.[53]​ However, the efficacy of these various treatment modalities is unclear given there are no controlled trials comparing them. Treatment decisions should be made in consultation with an oncologist.

Complicating our understanding of the impact of these treatments is the phenomenon of spontaneous regression of desmoids, which may occur in up to 10% of cases.[54][55]

Choice of treatment for desmoid tumours must be guided by whether the patient is receiving chemoprevention in the management of FAP, and the drug(s) already being used.

Plus – surveillance endoscopy with treatment depending on polyp burden

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ACUTE
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FAP: with colonic adenomas
|
with associated duodenal polyposis
Plus – 

surveillance endoscopy with treatment depending on polyp burden

Treatment recommended for ALL patients in selected patient group

At-risk patients found to have colorectal adenomas, as well as known adenomatous polyposis coli gene carriers, should have forward- and side-viewing oesophagogastroduodenoscopies at least every 5 years.

The American Society of Colon and Rectal Surgeons and the National Comprehensive Cancer Network recommend that screening for duodenal adenomas begin at aged 20-25 years, although this may be offered to younger patients if there is a family history of duodenal cancer or significant duodenal polyp burden.​[9][28]​​[30]​​​​ The American College of Gastroenterologists and the European Society of Medical Oncology advise a later starting age of 25-30 years.[29][30][56]​​​​​​​​​ Endoscopy should be repeated every 4-5 years until polyps are found.[29]​​​​[56]​​​

Once polyps develop, the Spigelman criteria can be used to determine the appropriate surveillance intervals:[36]

Stage 0: 3-5 years

Stage 1: 2-3 years

Stage 2: 1-2 years

Stage 3: 6-12 months

Stage 4: surveillance should occur every 3-6 months along with surgical consultation for consideration of duodenectomy.[9] 

Patients with advanced polyposis should be referred to expert centres to be managed by endoscopists with expertise in familial adenomatous polyposis.[9] Endoscopic treatment is used for downstaging, with the aim of delaying the development of stage 4 disease. Endoscopic therapies for duodenal adenomas include polypectomy, endoscopic mucosal resection, and ablation.[12]

There is insufficient evidence for the benefit of chemoprevention in the management of duodenal polyps. Patients should be referred to expert centres for consideration of enrolment in a clinical trial if they are interested in chemoprevention. There are currently no approved drugs for the prevention or regression of duodenal adenomas.[9]

attenuated FAP: without colonic adenomas

1st line – surveillance colonoscopy

Back
ACUTE
|
attenuated FAP: without colonic adenomas
1st line – 

surveillance colonoscopy

Patients with a family history of attenuated familial adenomatous polyposis who are adenomatous polyposis coli (APC)-positive should undergo surveillance endoscopy to identify colonic adenomas.[9][24][30][37]​

Surveillance should begin in the late teens, and generally no later than 20 years age.[9][37] Frequency of colonic surveillance is individualised depending on colonic phenotype, and is typically undertaken between every 1 and 3 years.[9][24][37] 

The presence of alarm symptoms such as anaemia, rectal bleeding, increased bowel movements, and mucous discharge should prompt urgent colonoscopy for any patient, regardless of age or colonic phenotype.[24][37] 

attenuated FAP: with colonic adenomas

1st line – surveillance colonoscopy with polyp clearance

Back
ACUTE
|
attenuated FAP: with colonic adenomas
1st line – 

surveillance colonoscopy with polyp clearance

Frequent colonoscopic adenoma clearance may be suitable for patients with a low polyp burden.[40][48][57][58][59] This is generally defined as having <20 adenomas (all <1 cm in diameter) with no advanced histology.[9]

1st line – ileal pouch-anal anastomosis (IPAA) or ileorectal anastomosis (IRA)

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ACUTE
|
attenuated FAP: with colonic adenomas
1st line – 

ileal pouch-anal anastomosis (IPAA) or ileorectal anastomosis (IRA)

Surgery should be offered where adenoma burden cannot be managed endoscopically. This is typically when polyp burden is >20 (at any individual examination), polyps have been previously ablated, some polyps are >1 cm in size, or advanced histology is noted in any polyp.[9]

Choice of surgery in attenuated familial adenomatous polyposis is individualised based on the age of the patients, their previous surgical history, location of polyps, and patient preferences.[48] In most cases, rectal adenomas are few, therefore, colectomy with an IRA and continuous, lifelong surveillance of the rectum is the management of choice.

Female patients should be counselled that IPAA is associated with an increase in infertility.[44]

Rectoscopy or pouchoscopy should be performed at least annually.

Consider – chemoprevention

Back
ACUTE
|
attenuated FAP: with colonic adenomas
Consider – 

chemoprevention

Additional treatment recommended for SOME patients in selected patient group

Chemoprevention may be considered as an adjunct in the management of retained rectum or ileal pouch in select patients following prophylactic surgery.[9][28]

Available data suggest that sulindac, a cyclo-oxygenase (COX)-1 and COX-2 inhibitor, is the most potent drug for polyp regression. However, it is not yet known whether decreases in polyp burden reduces colorectal cancer risk.[9][60]

Patients should be referred to expert centres for consideration of enrolment in a clinical trial if they are interested in chemoprevention. There are currently no approved drugs for this indication.

Plus – pharmacotherapy, radiotherapy, or surgery

Back
ACUTE
|
attenuated FAP: with colonic adenomas
|
with associated desmoid tumours
Plus – 

pharmacotherapy, radiotherapy, or surgery

Treatment recommended for ALL patients in selected patient group

Patients with attenuated familial adenomatous polyposis (FAP) and desmoid tumours should be referred to centres specialising in management of desmoid tumours.

Pharmacological therapy is usually the preferred initial approach.[28] Surgery can stimulate intra-abdominal desmoid tumour growth in patients with FAP and is only typically offered to symptomatic patients who do not respond to initial medical therapy.[28]

Available treatments include cyclo-oxygenase (COX)-2 inhibitors (e.g., celecoxib) or combined COX-1 and COX-2 inhibitors (e.g., sulindac), anti-oestrogens (e.g., tamoxifen), chemotherapy and radiotherapy, and surgery. Imatinib has been associated with both partial response and growth stabilisation, even in desmoids that do not have apparent mutations in the KIT tyrosine kinase oncogene.[53] However, the efficacy of these various treatment modalities is unclear given there are no controlled trials comparing them. Treatment decisions should be made in consultation with an oncologist.

Complicating our understanding of the impact of these treatments is the phenomenon of spontaneous regression of desmoids, which may occur in up to 10% of cases.[54][55]​​​​​​

Choice of treatment for desmoid tumours must be guided by whether the patient is receiving chemoprevention in the management of FAP, and the drug(s) already being used.

Plus – surveillance endoscopy with treatment depending on polyp burden

Back
ACUTE
|
attenuated FAP: with colonic adenomas
|
with associated duodenal polyposis
Plus – 

surveillance endoscopy with treatment depending on polyp burden

Treatment recommended for ALL patients in selected patient group

At-risk patients found to have colorectal adenomas, as well as known adenomatous polyposis coli gene carriers, should have forward- and side-viewing oesophagogastroduodenoscopies at least every 5 years.

The American Society of Colon and Rectal Surgeons and the National Comprehensive Cancer Network recommend that screening for duodenal adenomas begin at aged 20-25 years, although this may be offered to younger patients if there is a family history of duodenal cancer or significant duodenal polyp burden.[9][28]​​[30]​​​​​​​​​​​​ The American College of Gastroenterologists and the European Society of Medical Oncology advise a later starting age of 25-30 years.[29][30][56]​​​​​​​​​ Endoscopy should be repeated every 4-5 years until polyps are found.[29]​​​​[56]

Once polyps develop, the Spigelman criteria can be used to determine the appropriate surveillance intervals:[36]

Stage 0: 3-5 years

Stage 1: 2-3 years

Stage 2: 1-2 years

Stage 3: 6-12 months

Stage 4: surveillance should occur every 3-6 months along with surgical consultation for consideration of duodenectomy.[9]

Patients with advanced polyposis should be referred to expert centers to be managed by endoscopists with expertise in familial adenomatous polyposis.[9] Endoscopic treatment is used for downstaging, with the aim of delaying the development of stage 4 disease. Endoscopic therapies for duodenal adenomas include polypectomy, endoscopic mucosal resection, and ablation.[12]

There is insufficient evidence for the benefit of chemoprevention in the management of duodenal polyps. Patients should be referred to expert centres for consideration of enrolment in a clinical trial if they are interested in chemoprevention. There are currently no approved drugs for the prevention or regression of duodenal adenomas.[9]

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Choose a patient group to see our recommendations

Please note that formulations/routes and doses may differ between drug names and brands, drug formularies, or locations. Treatment recommendations are specific to patient groups. See disclaimer

Use of this content is subject to our disclaimer