The definition of familial adenomatous polyposis was firstly provided by Chargelaigue in 1859 [20]: an inherited condition in which numerous adenomatous polyps arise mainly from the epithelial lining of the large bowel. The WHO defined FAP as an autosomal dominant disease characterized by more than 100 adenomatous polyps [4].

The incidence of FAP is between 1:10,000 and 1:15,000 live births [13]. Familial history can be negative in over 20 % of patients given the possible misdiagnosis of relatives affected by the disease or the presence of a de novo APC gene mutation. The disease is caused by a germline mutation of the APC gene with a 100 % of penetrance. Another gene called MUTYH accounts for the so-called autosomal recessive FAP which is milder and definitely less frequent.

FAP is mostly present in the second and third decade of life, and polyps increase in size and number with age. Cancer develops among 40–50 years of age [21] with a cumulative risk of colorectal cancer development higher than 90 % after the age of 50.

Aspecific symptoms include diarrhea, abdominal pain, rectal bleeding, palpable masses, and constipation.

FAP polyps occur throughout the colon, but fundic gland polyps have also been described in the stomach in 90 % of patients, though without increased cancer risk development. Duodenum can also be involved with adenomatous polyps carrying a 5 % of progression to cancer [21].

Extraintestinal manifestations were described including dental anomalies, lipomas, desmoid tumors, epidermoid cysts, osteomas, congenital hypertrophy of the retinal pigment epithelium (CHRPE), and brain tumors.

Diagnosis is based on clinical presentation and familial history. Usually a sigmoidoscopy or a full colonoscopy with biopsies provides diagnosis of FAP. Nonetheless, genetic testing provides the ultimate diagnosis in 95 % of cases.

Prophylactic laparoscopic total colectomy is advocated with rectal mucosectomy and ileal J-pouch anastomosis. Post-colectomy surveillance should include physical examination with examination of the pouch and the transitional anal zone.

A careful attention must be done also to the upper gastrointestinal surveillance, for the screening of gastric and proximal small bowel tumors with a gastroduodenoscopy starting at age 25–30 years and repeated every 0.5–4 years according to the Spigelman stage of polyposis [14].

Gardner syndrome (also known as familial colorectal polyposis) was firstly described by Eldon J. Gardner in 1951 [22] as a variant of FAP associated to epidermoid cysts, dental anomalies, desmoid tumors, and multiple osteomas that can be localized in the skull (mostly in the mandibular angle), the paranasal sinuses, and in the long bones. GS is an autosomal dominant disorder caused by a mutation of the APC gene, with an estimated incidence of 1:14,025 live births [23] and no gender preponderance.

GS may also have a gastric localization with multiple polyps [24].

Colorectal cancer develops in 100 % of GS patients with colonic polyps. On the ground of these considerations, surgical strategies are similar than FAP, with restorative proctocolectomy and ileal pouch-anal anastomosis [25].

Turcot syndrome (TS) was originally described by Turcot and colleagues in 1959 and represents a variant of FAP, with an association with brain tumors (medulloblastoma and glioblastoma) [26].

A 12-mmHg CO₂ pneumoperitoneum is created after insertion of a 12-mm port in the umbilicus. Two operative 5-mm ports are inserted in the flanks, and a third 12-mm operative port is inserted in the right iliac region.

Dissection of the colon is started at the rectosigmoid junction using vessel-sealing devices for the sigmoid arteries and inferior mesenteric artery, which is spared, thanks to the marginal dissection of the large bowel (provided malignant transformation did not occur). Colectomy is then carried out in an anticlockwise direction up to the last ileal loop. Bundles for a correct and safe laparoscopic colectomy are (1) ureter identification, (2) transverse colon dissection with gastric vessel preservation (Fig. 29.2), (3) careful identification and preservation of the Treitz ligament at the splenic flexure, and (4) careful identification and preservation of the duodenum at the hepatic flexure during Kocher maneuver. The rectum is then dissected down to the peritoneal reflection and interrupted with a mechanical linear stapling device (Fig. 29.3). Under laparoscopic view, the colon is then extracted extending slightly the incision of the right iliac trocar where the terminal ileostomy will be fashioned.

A 3-cm J-pouch ileal reservoir with vascular supply control is created using the right iliac incision used to extract the colon (Fig. 29.4). The J-pouch is returned in the peritoneal cavity and a multichannel-access flexible SILS® Port (Covidien plc, Cherrywood Business Park, Loughlinstown Co., Dublin, Ireland) is inserted in the ileostomy site and used for further two 5-mm service instruments (Fig. 29.5).