Surgery Definition – What is familial adenomatous polyposis?
Surgery Definition – What is familial adenomatous polyposis?
Familial adenomatous polyposis is a polyposis of the colon which later progress into carcinoma. It is an inherited disorder which is an autosomal dominant. There is a risk of developing colon cancer at the age of 20 – 40 years of age. Pathological analysis may reveal the polyps carpeting the lining of the colon which initially started on the left side and the sizes vary from 1-2mm. The patient with familial adenomatous polyposis may present with diarrhea, per rectum bleeding and vague cases of abdominal pain.
The investigation of familial adenomatous polyposis may include double contrast barium enema and colonoscopy, genetic screening for the present of the mutation of the APC gene on chromosome 5q.
The treatment for the familial adenomatous polyposis may include subtotal colectomy with the formation of ileorectal anastomosis and the destruction of the rectal polyps. Follow up is required every 6 months for the remaining life of the patient to destroy the rectal polyps.
In case rectal cancer formation, abdominoperineal resection and permanent ileostomy is needed.
Alternative treatment may include prophylactic panproctocolectomy may be performed.
The screening may include annual sigmoidoscopy for first degree relvative from puberty until formation of the adenoma or even when there are negative for APC gene mutation in genetic screening. If genetic screening is not available, consider annual sigmoidoscopy until 25 years of age and every 2 years until the age of 35.
Familial adenomatous polyposis is a polyposis of the colon which later progress into carcinoma. It is an inherited disorder which is an autosomal dominant. There is a risk of developing colon cancer at the age of 20 – 40 years of age. Pathological analysis may reveal the polyps carpeting the lining of the colon which initially started on the left side and the sizes vary from 1-2mm. The patient with familial adenomatous polyposis may present with diarrhea, per rectum bleeding and vague cases of abdominal pain.
The investigation of familial adenomatous polyposis may include double contrast barium enema and colonoscopy, genetic screening for the present of the mutation of the APC gene on chromosome 5q.
The treatment for the familial adenomatous polyposis may include subtotal colectomy with the formation of ileorectal anastomosis and the destruction of the rectal polyps. Follow up is required every 6 months for the remaining life of the patient to destroy the rectal polyps.
In case rectal cancer formation, abdominoperineal resection and permanent ileostomy is needed.
Alternative treatment may include prophylactic panproctocolectomy may be performed.
The screening may include annual sigmoidoscopy for first degree relvative from puberty until formation of the adenoma or even when there are negative for APC gene mutation in genetic screening. If genetic screening is not available, consider annual sigmoidoscopy until 25 years of age and every 2 years until the age of 35.
