Familial Adenomatous Polyposis

November 12, 2012

Familial Adenomatous Polyposis

Its Diagnosis, Treatment and Prevention Familial adenomatous polyposis, or FAP, refers to an inherited syndrome of colorectal cancer. Patients who have FAP usually start developing tons of colon polyps during their teenage years and the colorectal cancer will usually appear by the time they turn 40. In order to avoid colon cancer altogether, patients will need to have their colon or their rectum removed.

The Diagnosis

To diagnose familial adenomatous polyposis, the first step will naturally depend on the family’s overall history of cancer and colorectal polyps. Since most patients who have FAP got them from their parents, it only makes sense if consecutive generations end up having it, too. Because of this, a careful and thorough look into family history would be vital when diagnosing FAP. Around 30% of FAP patients got the abnormal genes that causes the syndrome during conception. If this is the case, then the following generations might be at risk for FAP, it might not exist in the family history so far. In general, there are two common methods that are used to detect gene mutations: direct DNA sequencing and the protein truncation test. Gene testing should initially be done on somebody in the family who already has a confirmed case of FAP. Once the mutation has been confirmed, other members of the family can get themselves tested, as well. If no mutation has been found, though, then there would be no point doing blood tests on family members anymore. Since 30% of FAP patients have a brand new mutation, though, then they might not even know they are victims of FAP until cancer or polyps symptoms show up. These symptoms might include rectal bleeding, bowel changes, abdominal pain, extreme weight loss, or low blood counts. A colon examination can be used here to determine whether the cause is actually polyposis.

The Treatment

When it comes to familial adenomatous polyposis, colonic polyps tend to form by the ton and it isn’t even possible to remove them individually. Therefore, the only highly effective treatment for them would be to remove the entire colon through surgery. Although the idea of getting surgery might be upsetting to some, it needs to be done in order to avoid colon cancer in the long run. Polyps start forming during puberty and once they are detected, a surgeon can schedule the surgery as needed. Fortunately, today’s operations have already gone through a lot of advances, so they can either be done by making small holes inside the abdomen (laparoscopy) or by making regular abdominal incisions (laparotomy). Some of the most common types of surgery for familial adenomatous polyposis nowadays include ileorectal anastamosis (IRA), restorative proctocolectomy, ileostomy and proctocolectomy.

The Prevention

One of the best ways to prevent familial adenomatous polyposis would be by joining. Fortunately, there are various colorectal cancer registries in many states and they all have a single purpose: to stop people from dying from colon cancer. In order to make this goal a reality, the staff of the registry will always try to ensure that their patients get diagnosed and treated as early as possible. To do this, they screen patients’ family members and make sure that the diagnosed patients know of the required screenings and doctor visits beforehand. Since polyps and colorectal cancer have such strong hereditary connections, keeping track of everybody through these registries can definitely save lives.

There are also a lot of other advantages that come with being a member of one of these registries. Members will all get yearly screening letters, newsletters and booklets, for example. Plus, the registry team will also make appointments for those with familial adenomatous polyposis, answer anybody’s questions and share research developments with everybody in the registry.


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