Surgical treatment of familial adenomatous polyposis: Dilemmas and current recommendations

Table 1 Phenotype-Genotype correlations in familial adenomatous polyposis patients

Phenotype	Mutations	Authors
AFAP	APC extreme ends (exons 3,4,5) and exon 9	Spirio et al[5] 1993
Profuse polyposis (approximately 5000 polyps)	Between codons 1250-1464	Nagase et al[6] 1992
Severe polyposis and early CRC onset	Deletion in codon 1309	Caspari et al[7] 1995
Desmoid tumor	Between codons 1444-1580	Caspari et al[7] 1995
CHRPE	Between codons 463-1387	Olschwang et al[8] 1993
Thyroid cancer	5' to codon 1220	Cetta et al[9] 2000
Duodenal adenomas	Between codons 976-1067	Bertario et al[10] 2003
Rectal cancer	Codons 1250 to 1464	Bertario et al[11] 2000

AFAP: Attenuated familial adenomatous polyposis; APC: Adenomatous polyposis coli; CRC: Colorectal cancer; CHRPE: Congenital hypertrophy of the retinal pigment epithelium.

Table 2 Factors to be considered in the timing decision for surgery

Reasons to indicate or postpone surgery	Timing for surgery
Presence of symptoms (> risk of CRC)	As soon as possible
Asymptomatic patient with mild disease	Discuss opportunity (before 20 years?)
Sized lesions or with high-grade dysplasia, not amenable to endoscopic resection	Immediately
Severe disease at colonoscopy or by family history/genotype	As soon as practicable
Attenuated polyposis at colonoscopy or by family history/genotype	Personal decision (16-20 years if mild or 21-25 years if attenuated polyposis )
Preoperative diagnosis, positive family history or genetically susceptible for desmoids	Delay surgery (after evaluating CRC risk)

CRC: Colorectal cancer.

Table 3 Patient’s and disease factors affecting operative choices

Patient	Disease
Age, sex, obesity, prior surgery	Number and location of polyps
Genetics - family history	Colorectal cancer or metastatic disease
Female fecundity	Presence or risk of desmoid disease
Compliance with follow-up	AFAP
Acceptance of a temporary stoma	MAP

MAP: MYH associated polyposis; AFAP: Attenuated familial adenomatous polyposis.

Table 4 Recommendations for surgical treatment based on clinical and genetic features

Operation	IRA	RPC
Indications	Mild FAP or MAP (< 20 rectal or < 1000 colonic polyps)AFAP by family history, endoscopy or genetic testingNo colorectal carcinomaYoung women without definitive offspringMetastatic CRC	Many (> 20) rectal adenomas or > 3 cm or high-grade dysplasiaSevere colonic phenotype(> 1000) or family historyColorectal carcinomaMutations in codon 1309Mesenteric desmoid or family history or APC mutation (codons 1403-1578)
Pros	Technically simple, good function, low morbidity, no pelvic dissection
Cons	Metachronous rectal cancer	Technically demandingHigh morbidity

AFAP: Attenuated familial adenomatous polyposis; MAP: MYH associated polyposis; IRA: Ileorectal anastomosis; CRC: Colorectal cancer; RPC: Restorative proctocolectomy; APC: Adenomatous polyposis coli.

Table 5 Incidence of adenomatous polyps at the anal transition zone or anastomotic site after handsewn or double-stapled anastomosis

Study	Handsewn anastomosis	Double-stapled anastomosis	Follow-up (yr)
Remzi et al[47]	21% in the pouch14.3% in the ATZ	11% in the pouch28% in the ATZ	5.8
Von Roon et al[48]	27%	54%	10
Friederich et al[49]	29%	64%	7
Van Duijvendijk et al[36]	10%	31%	7

ATZ: Anal transition zone.