Familial Adenomatous Polyposis

Overview:

Familial adenomatous polyposis is a rare condition caused by defective genes. The majority of the patients are known to attain this adenomatous polyposis coli gene. This condition causes extra growth of a tissue called polyps. If these polyps are not treated, then they can develop into a more life-threatening condition. Surgical options might be necessary to eliminate cancer that is present in the intestine. After this surgical procedure, careful monitoring of the patients and regular check-up is mandatory.

What Is Familial Adenomatous Polyposis?

Familial adenomatous polyposis is a disorder that is inherited from the affected parents. This disease is characterized by the presence of cancer in the rectum and the large intestine. The classic type of familial adenomatous polyposis can develop into a non-cancerous condition in multiple sites. This condition can affect people belonging to the age of 40. A common variant of familial adenomatous polyposis is attenuated familial adenomatous polyposis. In this condition, the growth of polyp is delayed. Also, in this condition, the number of polyps are relatively less when compared to familial adenomatous polyposis.

What Are the Other Names of Familial Adenomatous Polyposis?

The other names associated with familial adenomatous polyposis are:

• Adenomatous familial polyposis syndrome.

• Adenomatous familial polyposis.

• Familial multiple polyposis syndrome.

• Adenomatous polyposis coli.

• MYH-associated polyposis.

What Are the Causes of Familial Adenomatous Polyposis?

Familial adenomatous polyposis is known to affect one individual out of 10,000 people. The mutations caused in the adenomatous polyposis gene can interrupt the normal functioning of the proteins that are generated by these genes. This will permit the cells to grow in an abnormal manner serving as a precursor for the cancerous condition. Less than 25 percent of the patients do not have any association with the family history.

What Are the Symptoms of Familial Adenomatous Polyposis?

The important sign of familial adenomatous polyposis is the occurrence or rapid growth of hundreds and thousands of polyps in the rectum and colon.

What Are the Risk Factors for Familial Adenomatous Polyposis?

The various risks involved in familial adenomatous polyposis are:

• The history of familial adenomatous polyposis or any other conditions like a desmoid tumor.

• A medical history of Gardner’s syndrome.

• Female gender.

What Are the Complications of Familial Adenomatous Polyposis?

The various complications associated with familial adenomatous polyposis are:

• Colon cancer. In addition to this, other types of cancer can also occur. It might include the liver, adrenal glands, nervous system, and thyroid gland.

• Benign Tumors in the skin.

• Osteoma. It refers to the non-cancerous growth in the bone.

• Dental anomalies such as improper development of the teeth are noted. In some cases, additional teeth are also evidenced.

• The count of red blood cells (RBC) will become low, resulting in anemia.

• Desmoids. Desmoids are non-cancerous tumors that can occur in any site of the body. They are particularly noted in the abdominal region. These desmoids can result in serious problems when they grow on the blood vessels and nerves. This is due to the excessive pressure exerted by the desmoids.

• Gastric fundic polyps. Gastric fundic polyps are polyp growths found in the lining of the stomach.

• Congenital hypertrophy of the retinal pigment epithelium (CHRPE). This condition results in the alterations of the retinal pigments.

• Duodenal polyps. Duodenal polyps are known to grow in the upper part of the small intestine. It is a serious condition as there are possibilities for the duodenal polyp to change into cancer. Careful monitoring can help in easy detection and removal of cancer.

• Periampullary polyp. Periampullary polyps can occur at the entrance of pancreatic ducts. This site is referred to as ampulla. This is also a dangerous condition as it can result in cancer.

How Is Familial Adenomatous Polyposis Diagnosed?

Since familial adenomatous polyposis is a complicated condition, any initiative for diagnosis should be recommended by a professional doctor. The common diagnostic methods that are implemented for the detection of familial adenomatous polyposis are:

• Colonoscopy: Colonoscopy is a procedure that is done to investigate the entire colon. A flexible tube is inserted through the rectum. Some patients might experience pain during this procedure. In order to overcome the pain, general anesthesia is given. After the insertion of the tube, a biopsy tissue is collected and diagnosed in the laboratory. Once the polyps are detected in the colon, the patients will need a colonoscopy to be performed every year even after the surgical removal of the polyps.

• Sigmoidoscopy: Sigmoidoscopy is a procedure that is done with the help of a flexible tube. This tube helps in the inspection of the sigmoid and rectal regions. The sigmoidal region is found in the bottom-most part of the colon. Patients who have a familial history of adenomatous polyposis are recommended to go for a standard sigmoidal procedure every year. Medical reports suggest that this diagnostic procedure should be done at the age of 10 to 12 in these patients.

• CT Scan: Computed tomography scan can be used to visualize the tumors in a precise manner.

• MRI Scan: Magnetic resonance imaging scan has a lot of advantages over CT scan. The doctor should decide the diagnostic method required.

• Esophagogastroduodenoscopy (EGD) and Side-Viewing Duodenoscope. The esophagus and the entire gastrointestinal tract can be seen with the help of two types of scopes. A biopsy tissue might be collected for microscopic examination.

• Genetic Testing: Genetic testing can be done to identify the mutations in the gene.

What Are the Treatment Options for Familial Adenomatous Polyposis?

The treatment is planned according to the severity and health condition of the patient. The different treatment options that are available are listed below. In minimally invasive methods of colon and rectum, laparoscopic methods are implemented where several small incisions are made.

• Total Proctocolectomy With Ileoanal Anastomosis: Total proctocolectomy with ileoanal anastomosis is also known as J-pouch surgery. In the method, both the rectum and the colon are removed, and a part of the small intestine is left attached to the rectum.

• Total Proctocolectomy With a Continent Ileostomy: It is a procedure in which the rectum and the colon are removed. After the removal, an opening is made. It is referred to in medical terms as an ileostomy. An ileostomy is usually done on the right side of the abdomen.

• Subtotal Colectomy With Ileorectal Anastomosis: It is a procedure in which the colon is removed without disturbing the rectum by surgical procedures.