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Hereditary Polyposis Syndromes FAP/HNPCC

There are several types of Hereditary Polyposis Syndromes, all of which are characterized by multiple polyps growing throughout and sometimes outside of the colon. While rare, the conditions are genetic, meaning they are passed down through generations of the same family. Researchers have identified cause of hereditary polyposis, and it is now known to be secondary to a gene mutation. Treatment for people who live with one of these diseases typically consists of genetic testing, regular screenings, polyp removal, bowel resection, removal of other organs and treatment of malignancies.

Did you know…

that all hereditary polyposis syndromes can be classified into one of two categories? Hamartomatous polyposis syndromes are the most common and are characterized by widespread growth of non-cancerous juvenile polyps throughout the colon. Adenomatous polyposis syndromes, however, cause growths along the lining of the colon that are at risk of becoming cancerous. The hereditary polyposis syndromes include:

  • Peutz-Jeghers syndrome
  • Juvenile polyposis
  • Cowden’s disease
  • Familial adenomatous polyposis
  • Gardner syndrome
  • Turcot syndrome
  • Lynch syndrome (HNPCC)

 

Frequently Asked Questions

I have a family member with hereditary polyposis syndrome. Do I need to be screened?

If you have a blood relative with one of the hereditary polyposis syndromes, it is important that you be screened for the condition yourself, regardless of your age. The type and frequency of screenings vary according to the type of disease a person has. For example, children in early adolescence who have been diagnosed with Peutz-Jeghers syndrome may need to undergo frequent upper and lower endoscopies.

Is there a higher risk of cancer associated with hereditary polyposis syndrome?

Yes, especially in people with adenomatous polyposis syndromes. Polyps and growths in these individuals almost always become cancerous by age 40. People with hamartomatous polyposis syndromes have a lower risk of cancer, though it still remains much higher than in people without hereditary polyposis syndromes.

How will a colorectal surgeon treat this condition?

Surgical treatments are often used to remove lesions and polyps within the GI tract and biopsy areas suspected of malignancy. In some individuals, a partial or subtotal colectomy may be necessary to reduce the risk of developing colon cancer.