Signs, Symptoms and Treatment of Familial Adenomatous Polyposis

Familial Adenomatous Polyposis (FAP) is a condition in which the individual is susceptible to get numerous adenomas or polyps ( abnormal growth of tissue) along the mucous lining of the large intestine. It is condition which very often develops into cancer of the colon. Of any cancers, colon cancer is the second leading cause of cancer related deaths in the United States.

FAP in the sigmoid colon

It is an inherited condition. Normally development of polyps is age related and is mostly seen after the age of 50. However, in FAP, the appearance of multiple polyps could start as early as the teenage years. The polyps start out benign but if not treated can develop into cancers very soon. The average age for individuals with a classic version of the disease discussed to get colon cancer is 39. It is thought to be caused by a genetic defect in which the Adenomatous Polyposis Coli gene (APC gene) undergoes abnormal mutation. Inheriting this mutated gene puts one in the high risk category for colon cancer.

The incidence of being born with this dangerously mutated gene is between 1 in 10,000 to 1 in 15,000 births.

Symptoms of Familiar Adenomatous Polyposis

  • Hundreds to thousands of polyps could appear on the colon very early on in life. It could be as early as the early teenage years.
  • The polyps or abnormal growths could bleed. Blood is not always visible in stools.
  • Another indication of bleeding polyps could be the unexplained anemia due to blood loss.It could also be accompanied with iron deficiency as is seen in classic anemia.
  • This condition could lead to cancer without the individual being aware. Abnormal weight loss, altered bowel habit etc could be indications of cancer.
  • FAP is a condition which could instigate the appearance of neoplasms(Cancers) in other parts of the digestive system apart from the colon. Malignancies in stomach, duodenum, liver, bones can occur because of it.
  • CHRPE in the retina

  • Lesions pigmenting the retina of the eye could also point to the presence of FAP.
  • Appearance of sebaceous cysts which is a growth on the skin filled with the semi solid white substance known as sebum is also a symptom.

Tests conducted to diagnose the disease

  • It is very essential to detect the presence of the defective gene in the individual to do a proper treatment of a classic FAP. Genetic testing is essential in providing the definitive diagnosis in 95% of cases.
  • Colonoscopy is ideally done to take a stand on the number, size and intensity of the polyps in the colon.
  • Barium Enema and virtual colonoscopy are also conducted if it is necessary in diagnosing the condition.
  • Blood tests and liver functions tests are also a must to rule out liver cancer.
  • Ultrasound of the abdomen can also help sometimes.

Treatment of Familial adenomatus Polyposis

  • The treatment of the disease generally depends on the genotype. If the individual carries the the mutated APC gene then doctors generally go for preventive surgery before the age of 25. This is because individuals with the APC gene have every possibility of developing colon cancer by the age of 40.
  • Sometimes surgery could involve removal of parts or whole of the colon and rectum.
  • Whether or not to remove the rectum, depends on the density of polyps in the rectum and family history.
  • If the the number of polyps on the rectum is less, the the colon is moved and the small bowel is connected to the rectum.
  • If the rectum is infested with polyps then both the rectum and colon is removed. In this case, the procedure ileostomy needs to be conducted. The stool is made to be go in to a bag in the abdomen.
  • Oral medications like Non Steroidal Anti Inflammatory Drugs (NSAIDs) works well to decrease the number of polyps and their size.

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