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Familial Adenomatous Polyposis

Familial Adenomatous Polyposis – General Information

Familial Adenomatous Polyposis is an inherited disease that is characterized by numerous polyps that form in the patient’s large intestine’s tissue. These polyps generally start as benign, but if the disease is left untreated they can suffer a malignant transformation which can lead to the appearance of the colon cancer (the colon is the first part of the large intestine). Patients who suffer from Familial Adenomatous Polyposis develop the polyps inside the intestine in their childhood. In almost all the cases the patients will develop the colon rectal cancer from the polyps, within 40 years of age. To minimize the risk of cancer appearance, the doctor will have to remove the colon, or in some cases, the rectum too. In the first stage of the disease, the polyps form in the patient’s stomach and small intestine. Because of their small size, the polyps that are found in the upper area of the stomach are called fundic gland polyps. There are cases in which the patient can present no polyps, or cases in which the patient can present a carpeting of polyps. After they are discovered, the polyps are biopsied. The fundic gland form of the polyps does not become cancerous, and usually does not require any treatment. Patients who suffer from Familial Adenomatous Polyposis, and present polyps that are found in the lower area of the stomach, called the antrum, are usually precancerous and are called adenomas. After they are discovered, they must be biopsied and fully removed, because they can develop into cancer.

Familial Adenomatous Polyposis – Symptoms

Familial Adenomatous Polyposis develops from a mutation of the adenomatous polyposis coli gene, or the chromosome five, which is responsible for the production of the protein that is involved in the regulation of the cell growth. The mutation usually affects one of the two allele genes in all cells in the patient’s body. The adenomatous polyps form when the cells that contain the affected gene produce colon cells also become affected. This kind of genetic damage takes place in the patient’s colon. Both men and women can be affected by the Familial Adenomatous Polyposis, and the children, of all the affected patients have fifty per cent chances to develop the disease in the future. From the first stage of the polyp appearance, the patient develops hundreds of them through their life. There are cases in which the polyps can bleed, leading to the appearance of blood in the patient’s stool. In some cases, the blood can not be visible, and the risk of developing anemia is increased, because of the gradual worsening of the patient’s iron deficiency. If the polyps become cancerous, the patient can experience signs or symptoms such as weight loss, altered bowel, or even metastasis of any organ, especially of the liver. If the patient experiences one of the symptoms above, it is very important to seek medical advice as soon as possible, because if the disease is treated in an early stage, the doctor can reduce the risk of developing colon cancer, which can be a real threat to one’s life.

Familial Adenomatous Polyposis – Treatment

It is very important to diagnose Familial Adenomatous Polyposis at an early stage, not only for the patient medical status, because if the disease is discovered before the colon cancer appears, they can not be affected. In most cases doctors chose a procedure that not only shows the exact quantification of polyps through the patient’s colon, but also a histological diagnosis, known as colonoscopy. Doctors can also use barium enema and virtual colonoscopy to diagnose this medical condition. After the patient has been diagnosed with Familial Adenomatous Polyposis, the doctor has to apply a close colonoscopic surveillance which uses polypectomy as main procedure. There are cases in which the patient presents more than fifty polyps in the colon, or there are severely dysplastic polyps, or the patient presents multiple polyps which can have more than one cm in diameter. In these clinical cases the main treatment option is the prophylactic colectomy. The doctor can also perform a partial colectomy, which has to be accompanied by a colonoscopic surveillance of the remaining colon because the patient can be exposed to an increased risk to develop colon cancer.

There are cases in which the doctor can apply the ultrasound procedure on the patient’s abdomen, or blood tests to observe the liver function and to exclude any metastasis of the liver. In cases in which the family has been diagnosed with Familial Adenomatous Polyposis, the doctor can apply genetic counseling. The genetic tests can also determine the exact diagnose in families that know they have the disease. The treatment for Familial Adenomatous Polyposis depends on the genotype of the patient. In most cases, patients who present the disease’s mutation develop the colon cancer after the age of 40 years. That is why the doctor recommends the prophylatic surgery within the age of 25. The patient can choose from many types of surgical options, which usually consist in removing the colon or both colon and rectum. The type of surgical option that the patient requires depends on the number of polyps that are present in the rectum, but also on his family history. If the patient presents few polyps in the rectum, the doctor can remove the colon and the ileum, the small bowel, which are connected to the rectum, using a procedure kwon as ileorectal anastomosis. There are cases in which the rectum is affected and when this happens, it is also removed along with the colon, and the patient may require a permanent stoma where the stool goes into a bag on the abdomen, process called ilepstomy. In these cases, the doctor can also perform an ileoanal pouch reconstruction procedure. The most effective medications used to treat Familial Adenomatous Polyposis are the non steroidal anti inflammatory drugs, that have the effect of slowing the malignant degeneration of the polyps. The medicines also help to reduce the number of polyps, but when this number is high, the main treatment option is the endoscopical operation.




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