Know all about Polyposis Syndrome

By - Updated Jul 20, 2016

If you’re not familiar with colon health – maybe it’s time to start educating yourself. People with Familial Adenomatous Polyposis are at high risk of developing bowel cancer much earlier than the general population, according to a new report released late last month from the Cancer Institute.

Whoa, whoa, whoa, let’s back up a second. What is Familial Adenomatous Polyposis (FAP)? (Which also goes by other names such as Colon Cancer, Polyposis Coli, Hereditary Polyposis Coli, Gardner’s Syndrome, and MYH-associated Polyposis?)

Polyposis Syndrome

For starters, everyone has a gene labeled the APC gene. Actually, everyone has two copies of the gene, but people with Familial Adenomatous Polyposis only have one working copy. The other is non-working. Don’t be too concerned, this is relatively rare. Just be sure to keep in mind that there are health risks associated with the disease. That’s why we’re here to teach you…

The disease causes hundreds, if not thousands of polyps to develop in the large bowel (intestine). This can begin as early as the teenage years, but rectal polyps may develop at any age. It is likely that some polyps will become cancerous if left untreated even while others may remain benign.

This is a genetic disorder/disease. It is likely fifty percent inherited from parents, but if you have a sibling that has FAP, you are also at higher risk (it is due to these reasons that genetic testing may be advised). In addition, it is important to keep in mind that about 1/4th of all cases will happen due to spontaneous mutation and not a hereditary link. There are also other signs of FAP that are likely to cause complication:

Duodenal polyps are usually found in the upper section of the small intestines and these may be cancerous. When carefully monitored, these polyps can be detected and removed prior to any development of dangerous cancers can occur.

Freckles in the eyes – Some people with FAP have tiny (harmless) freckles near the back of the eye which does not affect vision.

Gardner’s Syndrome – Is known as a variation of FAP. To find out if one is suffering from Gardner’s Syndrome, the doctor will look for small cysts and benign growths in the bones. He/she may also look for lumps that occur below the skin, on the face or the scalp.

Desmoid Tumors – Similar to polyps, desmoid tumors are benign tumors usually found in the wall or lining of the abdomen also sometimes colon tumor. These tumors grow slow and do not spread.

Other types of cancers may develop in the liver, adrenal or thyroid glands, or throughout the entire nervous system.

Non-cancerous bone and/or skin tumors may occur.

Major dental issues may also be a factor to consider as a complication associated with FAP.

Basic symptoms associated with FAP include (but are necessarily limited to): painful abdominal cramping, diarrhea, constipation, unexplained weight loss, blood in stool, and anemia (directly due to bleeding polyps).

There are few home diagnostic tests that can be conducted as a starting point for diagnosis and seeking treatment. These home test can be purchased with a prescription and include a Home Colorectal Cancer Test and a Home Fecal Occult Bleeding test. But for a confirmed diagnosis of FAP, it is strongly advised to have a colonoscopy and/or barium enema performed in a medical facility.

FAP is a clinical diagnosis meaning that when the doctor finds polyps he/she will make the diagnosis rather than looking for results from a laboratory test. One is considered to have FAP when 100 polyps or more are found. There is also blood testing to review the blood for the mutation in the APC gene we mentioned above. If this gene mutation is found, other family members may be diagnosed with FAP if they are tested and have the same gene mutation.

Treatment of this risky syndrome is mostly based on the results of the types of surgery – hence, did the doctor remove all the polyps and/or the entire large intestine to prevent cancer? Other treatments associated with this syndrome include polypectomy (a surgery to remove surface polyps without making an incision in the abdomen), Ileostomy (a surgical procedure to attached the ileum – small intestine – to the stoma. This is performed when the rectum and colon need to be removed), and a partial or total colectomy (when the colon is attached to the stoma).

Otherwise, close surveillance and follow up is required. Hopefully, the surgery was performed before the onset of any cancerous cells and you shouldn’t have any more surgeries.

Follow the guidelines given by your doctor for recovery and be aware that you may be placed on a strict diet, before and/or after the surgery to maintain colon health.

If you or a loved one has been diagnosed with Polyposis Syndrome, realize that the rest of the family should also be tested. This is a fairly serious, yet rare condition that should not be dismissed.

Works Cited

  • https://www.cancerinstitute.org.au/understanding-cancer/cancer-in-nsw/hereditary-cancers/familial-adenomatous-polyposis-(fap)
  • http://emedicine.medscape.com/article/175377-treatment#d7
references
Author

Contributor : Colon Health Magazine Staff (Colon Health Magazine)

Colon Health Magazine is a free resource for families, providing everything from in-depth product reviews to expert advice. Our articles and guides are written by industry experts and backed by in-depth research and analysis.

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