Interesting facts on Familial Polyposis Coli

Meaning and Definition of Familial Polyposis Coli

Familial Adenomatous Polyposis is the most commonly found adenomatous polyposis syndrome. This particular disorder is characterized by presence of hundreds or thousands of polyps, resembling boils or lumps along the internal lining layer of the colon i.e. the large intestine. The polyps usually are seen throughout the entire length of the colon.If the familial adenomatous polyposis is actually left untreated, you find majority of patients developing colon cancer, by the time they are 35-40 years old. This disorder usually runs in families.

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Cause for formation of polyps within your large intestine

  • The main cause for the formation of adenomatous polyps within the colon or large intestine is due to a genetic mutation, namely of the APC gene. This mutation is passed on from parent to child and as a result the disease runs in families.

Symptoms of FAP- Familial Adenomatous Polyposis

These are the following symptoms associated with FAP. They are

  • Passing blood in stools - due to bleed from one of the polyps
  • Pain in the tummy due to intussusceptions which may be due to polyp exerting a pulling effect on the colon
  • Loss of appetite or weight loss if the person develops a cancer in one of these polyps.
  • Diarrhea or constipation depending on the presence and location of tumour within the colon.

Diagnosis for an FAPColonoscopy

A long flexible tube fitted with light and camera is passed through your anal canal to visualize the inner aspect of the large intestine. The patient is given a mild sedative pill to make him/her feel absolutely relaxed. Colonoscopy helps your doctor see the extent and number of polyps within your intestine, it also allows to take biopsy of suspicious polyps to detect cancer and visualize and biopsy other abnormal areas.

Genetic testing

Here a blood sample is tested for the genetic mutation in close family members of the patient like parents, brothers and sisters to detect the presence of APC gene mutation. If a mom or dad has been detected with APC gene mutation there is 50% chance of children being affected with this mutation. If they test positive for the mutation, they need to undergo a colonoscopy to look for adenomatous polyps.

Treatment options

  • Once colonoscopy detects polyps, a wire loop is used to remove suspicious polyps. This procedure is painless and the removed polyps are examined for the presence of cancer.
  • If the entire large intestine is completely studded with polyps, you might not be aware which polyps are cancerous. The safer option is to surgically remove the entire large intestine.
  • The commonly performed surgical procedure involves removal of the entire large intestine. The rectum is the most terminal portion of the large intestine and acts a reservoir of stools before the patient passes stools. In this surgical procedure, once the large intestine has been removed, the small intestine is converted into a pouch like reservoir and joined to the anal canal and the procedure is called a ileal pouch anal anastomosis.
  • In case the rectum is not involved or has very few polyps, another option may be to perform a subtotal colectomy and ileorectal anastomosis. Here the patient will need a yearly colonoscopy test to look for polyps in the rectum or detect changes in the polyps.
  • After an ileal pouch anal anastomosis, the patient initially passes stools many times, but this usually settles down over a period of months.

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