Next-Gen

Familiar Adenomatous Polyposis

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by EDmitrieva263
Last updated 7 days ago

Discipline:
Health & Fitness
Subject:
Health
Grade:
6,7,8,9,10,11,12

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Familiar Adenomatous Polyposis

The symptoms of FAP and bowel cancer:1) blood or mucus in the stools, or bleeding from the back passage2) diarrhoea or constipation 3) pain in the tummy (abdomen) 4) weight loss (without changing your lifestyle, without any reason)

There can be no symptoms of polymps that occur in your gut until it will nor become a cancer.If FAP is not trated than the bowel cancer can only appear in the 39 years old. However, it can occur even in the age of teens.

It is is an inherited disorder characterized by cancer of the large intestine (colon) and rectum. Bowel cancer can be developed with this diagnosis if a person will not get treatments on time.Also, people might have this disease not only because of the family gene flow. Statictics show that it is about 1 in 4 people with FAP. Lots of small formations called polyps (adenomas) are formed in the large bowel, they usually appear when a person is a teenager. Attenuated FAP is another type of this disease, polyms usually form approximately 10 years later than with usual FAP.

FAP is caused by a fault in a gene called the APC gene. People inherite their genes from parents. They affect all the aspects of how we look like, what colour of hair or eyes we have, etc.Our genes are inherited from both parents. If there is a gene of FAP in one of the parent, it means that one APC gene is healthy and another one - mutated.

Symptoms

How FAP is inherited?

Familiar Adenomatous Polyposis

People can have FAP not only inheriting it. However, there is a 50% chance that children of a person will have this disease.A person can find out if he inherited FAP by making a blood test. It is suggested to do in the age of 12-14. If the disease is not found, bowel screening is offered to a patient. There can be found other forms of the disease and some solutions of treatment will be provided.

There is 50% chance that a child from this couple will have the altered gene, as the person's karyotype is formed from both parents. If a child will inherit mutated gene, he will have FAP disease. This is known as a dominant inheritance pattern, and for this reason FAP is known as a dominantly inherited condition. Approximately 75%-80% of individuals with APC-associated polyposis conditions have an affected parent. Offspring of an affected individual are at a 50% risk of inheriting the disease-causing mutation.

If you have been diagnosed with FAP, screening is needed to check your bowel (it should be done regularly until surgery is needed). The test oesophagogastroduodenoscopy (OGD) will also be done to check the stomach and duodenum from preventing development of polyps. People start doing these tests from the age of 25.

It is possible to find out whether you have the altered FAP gene by doing a genetic blood test.1. The first tested a person who has FAP2. Then other members of the family are tested. If there is no altered gene then you do not have to do bowel screening, there is no chance that a person will have bowel cancer 3. Sometimes the altered gene cannot be found in a person who has multiple adenomas (polyps). This means that their close family cannot have a genetic test but they will still have regular bowel checks (screening).

Genetic testing

Screening

A person has fewer polyps, because of it bowel cancer can be developed later, so a patient needs more time for making a decision about a surgery.

Colonoscopy

A colonoscopy allows a doctor to look at the lining of the bowel from the inside, to look for any polyps. This procedure is one of the most effective way of making a cancer diagnosis.

Treatments

A colonoscopy is made when a bowel of a person is empty. Before it, laxatives are given to a patient. Besides, a sedative is given to help a patient feel relaxed. A therapy starts from the insertion of the flexible tube into the back passage. A colonoscope has tiny light and camera, it helps to show any abnormal areas. During the procedure, some polyps can be removed by a wire loop that is included in the colonoscope.

By Elizaveta Dmitrieva

What is FAP?

Screening tests can be stopped if a genetic test showed that there is no copy of the altered gene.If you have a type of FAP called attenuated FAP (AFAP), screening will be done for longer.

An ileorectal anastomosis (IRA) is a operation when the large bowel is removed and the small bowel is attached to the rectum. The rectum may develop polyps so this must be examined at least once a year to prevent a cancer starting there. A pan-proctocolectomy is done when the rectum has to be removed. In this procedure the end of the small bowel is bought out to the skin and the body’s waste material is collected in a disposable bag (an ileostomy).In a pouch operation the colon is removed along the lining of the rectum. A pouch is then made from the end of the small bowel and the rectum. No checks have to be made on the rectum as there is no lining to grow polyps.Both the IRA and the pooch operation would allow you to go to the toilet normally but sometimes you may go more frequently than before.


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