Familial polyposis

Familial polyposis is a rare, inherited condition characterized by the development of many (hundreds to thousands) polyps in the colon and rectum. It is also known as Familial adenomatous polyposis (FAP).

Overview

Familial polyposis is a type of polyposis syndrome, which refers to the development of multiple polyps. Polyps are abnormal growths of tissue that can develop in any organ with blood vessels. In familial polyposis, these polyps develop in the colon and rectum. If left untreated, these polyps may become cancerous.

Causes

Familial polyposis is caused by mutations in the APC gene. This gene provides instructions for making a protein that helps control how often a cell divides, how it attaches to other cells within a tissue, and whether it moves within or away from a tissue. Mutations in the APC gene disrupt these functions, leading to uncontrolled cell growth and polyp formation.

Symptoms

The most common symptoms of familial polyposis include abdominal pain, diarrhea, rectal bleeding, and weight loss. Some people may not have symptoms until the polyps are large or have become cancerous.

Diagnosis

Familial polyposis is diagnosed through a combination of physical examination, medical history, and genetic testing. A colonoscopy may also be performed to visualize the polyps.

Treatment

Treatment for familial polyposis typically involves surgery to remove the polyps or the entire colon and rectum. Medications may also be used to control symptoms and reduce the risk of polyps becoming cancerous.

See Also

• Polyposis syndrome
• APC gene
• Colonoscopy

Familial polyposis Resources
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