Familial polyposis coli all except:
|B||M and F have equal incidence|
|C||M>F in incidence|
|D||Associated with Gardner's syndrome|
a. FAP is the prototypical hereditary polyposis syndrome.
b. The gene responsible for the transmission of the disease is the APC gene, located on chromosome 5q21, lagged behind the first descriptions of cases of FAP by an entire century.
c. The gene is expressed in 100% of patients with the mutation.
d. Autosomal dominance results in expression in 50% of offspring.
e. There is a negative family history in 10% to 20% of affected individuals, who apparently acquire the syndrome as the result of a spontaneous mutation.
f. Osteomas usually present as visible and palpable prominences in the skull, mandible, and tibia of individuals with FAP. They are virtually always benign.
g. Desmoid tumors can present in the retroperitoneum and abdominal wall of affected patients, usually after surgery. These tumors seldom metastasize but are often locally invasive, and direct invasion of the mesenteric vessels, ureters, or walls of the small intestine can result in death.
h. Surgical treatment of patients with FAP is directed at removal of all affected colonic and rectal mucosa.
i. Restorative proctocolectomy with IPAA has become the most commonly recommended operation. The procedure is usually accompanied by a distal rectal mucosectomy to ensure that all premalignant colonic mucosa is removed, and the IPAA is fashioned between the ileal pouch and the dentate line of the anal canal.
j. Patients who undergo this procedure for FAP have a better functional result than patients similarly treated for ulcerative colitis, in that the incidence of inflammation in the ileal pouch (pouchitis) is much lower in patients with FAP than in patients with ulcerative colitis