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

Table 21.

Statements pertaining to familial adenomatous polyposis-related other extracolonic manifestations (OEM)—extended version

Statements
Thyroid
OEM.1 What is the lifetime risk of thyroid cancer in FAP patients? The lifetime risk of thyroid cancer in FAP patients ranges between 1.5% and 12%.
OEM2 When and how should surveillance for the thyroid be performed? A: Thyroid surveillance, when performed, should include physical examination and thyroid ultrasound. B: Thyroid screening, if performed, can be initiated at the age of 16 in females and in adulthood in males. C: When the baseline thyroid ultrasound is negative, we suggest a screening interval of 2–3 years.
OEM.3 Which FAP patients are at a higher risk for developing thyroid neoplasia? 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
OEM.4 When should we screen for FAP in a patient diagnosed with ‘papillary thyroid carcinoma’? The diagnosis of FAP should be considered in female patients <35 years old, with a diagnosis of cribriform-morulae variant of papillary thyroid carcinoma.
Adrenal gland
OEM.5 What is the lifetime risk of developing adrenal gland cancer in FAP patients? 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.
OEM.6 What is the risk of developing adrenal gland adenoma (incidentalomas), unilaterally or bilaterally, in FAP patients? 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.
OEM.7 Do adrenal lesion(s) require further diagnostic intervention? A: The detection of an adrenal incidentaloma requires evaluation for both radiologically suspicious features and hyperfunction, regardless of the patients’ characteristics but according to international guidelines for incidentaloma. B: All patients with detected adrenal gland lesions should be referred to a specialized endocrinology clinic.
Pancreas
OEM.8 What is the lifetime risk of developing a pancreatic neoplasia in FAP patients? The lifetime risk of developing pancreatic cancer in FAP patients could be less than 2%.
Gallbladder
OEM.9 What is the lifetime risk of developing gallbladder neoplasia in FAP patients? The lifetime risk of the occurrence of gallbladder neoplasia (adenoma/carcinoma) has not been investigated so far.
Liver
OEM.10 What is the lifetime risk of developing hepatoblastoma in FAP patients? 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.
OEM.11 When and how should surveillance for hepatoblastoma in FAP patients be performed? A: There are insufficient data to prove that hepatoblastoma screening increases survival. B: If screening is performed it should start from birth and be performed every 6–12 months until the age of 5.
Brain
OEM.12 What is the lifetime risk of developing a brain tumour in FAP patients? There is insufficient evidence available to report on the lifetime risk of developing a brain tumour in FAP patients
Eyes
OEM.13 Should people with a diagnosis of CHRPE be investigated for FAP? 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.
Skin
OEM.14 When should screening for FAP be considered in a patient presenting with fibromas and epidermoid cysts? There is currently insufficient evidence to establish the cost-effectiveness of screening individuals with fibromas and epidermoid cysts for FAP.
Bones
OEM.15 Should patients with osteoma be screened for FAP? In patients with osteoma(s) FAP should be considered.
Gynaecological manifestations
OEM.16 What is the lifetime risk of developing gynaecological cancer in women with FAP? 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 of gynaecological cancer in FAP carriers.
OEM.17 What are the risk factors for developing gynaecological cancer in FAP patients? A: There is no evidence as 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. B: Female FAP carriers seeking contraception should be advised as to the reduced colorectal cancer risk in those who use oestrogen-based contraceptives.
OEM.18 Is there an effective form of gynaecological cancer surveillance for women with FAP? A: Gynaecological cancer surveillance should be as for the general population in women with FAP. B: 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 OEM.19 Does FAP have an impact on female fertility? A: There is no evidence that FAP in and of itself leads to reduced female fertility. B: 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. C: There is no convincing evidence showing different fertility outcomes between IPAA and IRA. D: Women who have undergone risk-reducing surgery and have not got pregnant within a year of trying should be referred to a fertility specialist.
OEM.20 What risk factors can impact on childbirth in a patient with IPAA? 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.

CHRPE, congenital hypertrophy of the retinal pigmented epithelium; FAP, familial adenomatous polyposis; IPAA, ileal pouch anal anastomosis; IRA, ileorectal anastomosis.