Familial Polyposis Coli

familial

Familial polyposis coli is known as familial adenomatous polyposis. This is a genetically inherited disease. Many adenomas grow in the epithelium of the colon. They begin as benign polyps but have a tendency to become malignant and lead to colon cancer if not treated properly. There are three types: familial adenomatous polyposis,attenuated FAP also called hereditary flat adenoma syndrome and autosomal recessive FAP also called MYH associated polyposis.
Familial adenomatous polyposis is the result of a genetic mutation and is the most common adenomatous polyposis syndrome.
Attenuated FAP is the result of impaired functionality of the APC gene, has fewer polyps and is somewhat still functional.
Autosomal recessive familial adenomatous polyposis or MYH associated polyposis is mild and manifests only when both the parents are carriers.

Causes of Familial Adenomatous Polyposis

FAP is quiet a rare condition and affects 1 in 10,000 people.
Genetic condition and mutation of the adenomatous polyposis coli or APC gene present in chromosome 5. The APC gene is a tumor suppressor located on band 5q21 and regulates a protein called B-catenin which is responsible for cell growth and destruction. When APC is faulty, then the cells are not controlled and manifest as polyps and can be cancerous.
Inherited from parents
Unexplained mutations which have erupted not due to inheritance

Symptoms of Familial Adenomatous Polyposis

  • Iron deficiency anemia
  • Abdominal pain
  • Rectal bleeding
  • Diarrhea
  • Weight loss

Diagnosis of Familial Adenomatous Polyposis

Flexible sigmoidoscopy or colonoscopy

This procedure helps in examining the lower part of the bowel via the rectum. Air is blown into the tube which is inserted into the intestine to look for polyps.

Endoscopic colonoscopy

This is done for patients with colonic symptoms to examine the digestive tract.

Genetic testing

A family history for the disease is studied and a genetic testing is done to confirm and clarify the diagnosis.

Treatment for Familial Adenomatous Polyposis

Patients with familial polyposis coli will require total proctocolectomy as this condition has a pre-malignant potential.