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. 2024 May 9;111(5):znae070. doi: 10.1093/bjs/znae070

Table 5.

Short version: statements pertaining FAP-related other extra-colonic manifestations (OEM)

Statements Level of evidence and agreement
Thyroid
 OEM.1: The lifetime risk of thyroid cancer in FAP patients ranges between 1.5% and 12%. LE: moderate
Agreement: 89%
(SA 41%; A: 48%; N 4%; D 7%)
 OEM2.A: Thyroid surveillance, when performed, should include physical examination and thyroid ultrasound. LE: low
Agreement: 85%
(SA 44%; A: 41%; N 7.5%; D 7.5%)
 OEM2.B: Thyroid screening, if performed, can be initiated at the age of 16 in females and in adulthood in males. LE: very low
Agreement: 71%
(SA 32%; A: 39%; N 7%; D 18%; SD 4%)
 OEM2.C: When the baseline thyroid ultrasound is negative, we suggest a screening interval of 2–3 years. LE: very low
Agreement: 78%
(SA 33%; A: 45%; N 11%; D 7%; SD 4%)
 OEM.3: Patients at higher risk for developing thyroid cancer include:

  • women

  • young age at the time of FAP diagnosis (< 33 years old)

  • presence of thyroid nodule(s) at the baseline ultrasound

  • newly diagnosed thyroid nodules

 LE: low
Agreement: 92%
(SA 38%; A: 54%; N 8%)
 OEM.4: The diagnosis of FAP should be considered in female patients younger than 35 years old, with a diagnosis of cribriform-morulae variant of papillary thyroid carcinoma. LE: low
Agreement: 89%
(SA 41%; A: 48%; N 7%; D 4%)
Adrenal gland
OEM.5: While adrenal mass incidence is 2–3 times higher in FAP patients compared to the general population, the development of adrenal gland cancer or pheochromocytomas is rare. LE: low
Agreement: 85%
(SA 23%; A: 62%; N 7.5%; D 7.5%)
 OEM.6: The reported proportion of patients with FAP who have adrenal incidentalomas ranges between 7% and 26%, which is 2–3 times higher than in the general population. LE: low
Agreement: 83%
(SA 47%; A: 38%; N 13%; D 4%)
 OEM.7A: The detection of an adrenal incidentaloma requires evaluation for both radiologically suspicious features and hyperfunction, regardless of patients’ characteristics but according to international guidelines for incidentaloma. LE: low
Agreement: 96%
(SA 44%; A: 52%; D 4%)
 OEM.7B: All patients with detected adrenal gland lesions should be referred to a specialized endocrinology clinic. LE: low
Agreement: 92%
(SA 32%; A: 60%; D 8%)
Pancreas
 OEM.8: The lifetime risk of developing pancreatic cancer in FAP patients appears to be less than 2%. LE: low
Agreement: 88%
(SA 21%; A: 67%; N 8%; D 4%)
Gallbladder
 OEM.9: The lifetime risk of the occurrence of gallbladder neoplasia (adenoma/carcinoma) has not been investigated to date. LE: low
Agreement: 85%
(SA 27%; A: 58%; N 11%; D 4%)
Liver
 OEM.10: The lifetime risk of developing hepatoblastoma in FAP patients is approximately 2%, with the highest incidence occurring in the age group of 1–4 years. LE: low
Agreement: 100%
(SA 50%; A: 50%)
 OEM.11A: There are insufficient data to prove that hepatoblastoma screening increases survival. LE: low
Agreement: 92%
(SA 46%; A: 46%; N 8%)
 OEM.11B: If screening is performed it should start from birth and be performed every 6–12 months until the age of 5. LE: low
Agreement: 82%
(SA 26%; A: 56%; N 8%; D 10%)
Brain
 OEM.12: There is insufficient evidence available to report on the lifetime risk of developing a brain tumour in FAP patients LE: —
Agreement: 81%
(SA 31%; A: 50%; N 15%; D 4%)
Eyes
 OEM.13: People with multiple unilateral or bilateral lesions require germline testing for FAP. If germline testing is negative, a single colonoscopy should be considered in early adulthood. LE: low
Agreement: 90%
(SA 55%; A: 35%; N 5%; D 5%)
Skin
 OEM.14: There is currently insufficient evidence to establish the cost-effectiveness of screening individuals with fibromas and epidermoid cysts for FAP. LE: low
Agreement: 88%
(SA 28%; A: 60%; N 8%; D 4%)
Bones
 OEM.15: In patients with osteoma(s) FAP should be considered. LE: low
Agreement: 84%
(SA 56%; A: 28%; N 13%; D 3%)
Gynaecological manifestations
 OEM.16: There are very limited data as to the incidence of gynaecological cancers in FAP carriers. Based on these limited data there does not seem to be an increased risk. LE: low
Agreement: 81%
(SA 31%; A: 50%; N 15%; D 4%)
 OEM.17A: There is no evidence to identify specific risk factors for the development of gynaecological cancers in FAP carriers. Women with FAP should be advised to maintain a healthy lifestyle and weight. LE: low
Agreement: 90%
(SA 47%; A: 43%; N 7%; D 3%)
 OEM.17B: Female FAP carriers seeking contraception should be advised as to the reduced colorectal cancer risk in those who use oestrogen-based contraceptives. LE: low
Agreement: 79%
(SA 34%; A: 45%; N 14%; D 7%)
 OEM.18A: Gynaecological cancer surveillance should be as for the general population in women with FAP. LE: low
Agreement: 83%
(SA 55%; A: 28%; N 10%; D 3.5% SD 3.5%)
 OEM.18B: Women with FAP, like women generally, should report any abnormal symptoms suggestive of gynaecological cancer to their family doctor urgently. These symptoms include:

  • Postmenopausal bleeding

  • Intermenstrual bleeding

  • New-onset menorrhagia

  • Bloating

  • Weight loss

  • Change in bowel habit

  • Increased urinary frequency, haematuria or dysuria

  • Palpable masses

  • Decreased appetite

  • New-onset nausea and vomiting.

 LE: low
Agreement: 90%
(SA 66%; A: 24%; N 10%)
 OEM.19A: There is no evidence that FAP in and of itself leads to reduced female fertility. LE: Low
Agreement: 90%
(SA 48%; A: 42%; N 7%; D 3%)
 OEM.19B: Women of child-bearing age who are diagnosed with cancer should be referred to a fertility specialist to discuss their options in a timely manner. LE: Low
Agreement: 97%
(SA 62%; A: 35%; N 3%)
 OEM.19C: There is no convincing evidence showing different fertility outcomes between IPAA and IRA LE: Low
Agreement: 92%
(SA 44%; A: 48%; N 4%; D 4%)
 OEM.19D: Women who have undergone risk-reducing surgery and have not got pregnant within a year of trying should be referred to a fertility specialist. LE: Low
Agreement: 88%
(SA 50%; A: 38%; N 12%)
 OEM.20: The impact of childbirth in a patient with IPAA has not been evaluated so far. No risk can be assessed on the impact of childbirth. LE: —
Agreement: 96%
(SA 46%;| A: 50%; N 4%)

A, agree; D, disagree; FAP, familial adenomatous polyposis; IPAA, ileal pouch anal anastomosis; IRA, ileorectal anastomosis; LE, level of evidence; N, neutral; SA, strongly agree; SD, strongly disagree.