Page contents
- What is familial adenomatous polyposis?
- symptoms
- Causes and risk factors
- Multiples
- Diagnosis
- treatment
- protection
Familial adenomatous polyposis is an inherited disorder of the large intestine, or colon, in which a group of benign polyps begins in the colon and later develops into malignant tumors without treatment.
Types of familial adenomatous polyposis
There are 4 types of familial adenomatous polyposis:
1. Classic Familial Adenomatous Polyposis
This type of polyps develops and polyps in it increase at a regular pace with age gradually, as hundreds to thousands of polyps may develop in the colon, and these tumors usually occur in the tissues that cover the intestines, and are stimulated to grow at a faster pace in the event of exposure to surgery in the intestine with the aim of removing them or for the purpose of another surgical procedure.
In this type, with the increase in the growth of tumors, it may reach the duodenum, which is part of the small intestine, and this makes the patient’s health condition significantly worse, because this will affect the absorption of important nutrients for the body.
The average age for polyps to develop in people with FAP is in their mid-teens, with most developing IBS by age 35.
2. Utosomal Recessive Familial Adenomatous Polyposis
This type is characterized by the fact that the number of polyps present in the colon is few compared to the classic type, where the number is less than 100 polyps, and this disease is less severe and developing than the previous type.
3. Gardner syndrome
Gardner syndrome is a type of familial adenomatous polyposis. This type is characterized by the presence of many other tumors in addition to colon tumors, including:
Epidermoid cysts: are masses that affect the skin and its tissues.
Osteomas: are masses that affect the bones.
4. Turcot syndrome
People with Turcott syndrome tend to have multiple colon adenomas, an increased risk of colorectal cancer, and an increased risk of brain tumors, the most prominent of which are the following two types:
Glioblastoma.
Medulloblastoma.
Symptoms of familial adenomatous polyposis
Symptoms of familial adenomatous polyposis were as follows:
- Severe pain in the abdomen.
- nausea.
- Unnecessarily tired.
- Sleeping a lot.
Causes and risk factors for familial adenomatous polyposis
The main cause of familial adenomatous polyposis is a genetic mutation of unknown cause, but which is thought to have arisen from infection with a pathogen or from exposure to radiation.
The gene that changes in the body causing familial adenomatous polyposis is the APC gene, and experts say that the change in it completely disrupts its function, leading to many tumors that begin to develop benign and become malignant.
It is worth noting that the change in this gene does not mean that all family members will be infected with the disease, only this genetic change is not transmitted through all individuals, as children may inherit the healthy gene from the healthy parent and not the affected one, and this means that 50% of children may be born without carrying them The altered gene, but on the other hand, there are 50% who may be carriers of it, which makes them susceptible to the disease in adolescence.
Complications of familial adenomatous polyposis
The most prominent complication of familial adenomatous polyposis is the increased chances of developing other types of tumors in the organs, the most prominent of which are:
Colorectal cancer: up to 100% if polyps are not removed.
Malignancy: from 10% to 20%.
Small bowel cancer: 4% to 12%.
Pancreatic cancer: 2%.
Papillary thyroid cancer: from 2% to 25%.
Hepatoblastoma: 1.5%.
Brain or central nervous system tumor: less than 1%.
Stomach cancer: up to 5%.
Bile duct cancer: a small increase in risk for which a percentage has not been established.
Adrenal cancer: a small increase in risk for which a percentage has not been established.
Diagnosis of familial adenomatous polyposis
Familial adenomatous polyposis is diagnosed in the following ways:
1. Physical examination
The doctor examines the patient clinically and asks him about the family history of the disease. If the person knows that some of his family members suffer from familial adenomatous polyposis, this will facilitate the diagnosis for the doctor.
2. Imaging examinations
After the physical examination, the doctor orders several imaging tests, from which the following can be chosen:
Computerized tomography scan: This scan gives a two-dimensional picture of the condition of the intestine.
Magnetic resonance imaging: This type is more accurate, as it gives a three-dimensional image of the general condition of the intestine.
3. Gene screening
Genetic screening is very important for FAP, as experts perform blood tests to look for disruptive changes in the APC gene.
Treatment of familial adenomatous polyposis
The treatment of familial adenomatous polyposis is not easy, because the disease is genetic, meaning that it will renew after each treatment. Here are the most prominent ways to treat the disease:
1. Pharmacotherapy
Medications can reduce the burden of colon and rectal polyps. This is known as chemoprevention, and it is given to a group of patients selected by a physician according to their condition and age.
Two drugs, Sulindac and Celecoxib, have been shown to reduce the number of colorectal polyps and delay the timing of first surgery, so these drugs can also control polyps.
2. Surgical treatment
Surgical treatment is an emergency and direct treatment after the discovery of the condition, and the operation aimed at eradicating benign tumors cannot be postponed.
It should be noted that if cancer or high-grade dysplasia is found in the stomach, it is recommended to remove the stomach and reconnect the intestinal canal. This surgery is the most difficult as it has many complications for the patient.
3. Complementary therapy
The treatment does not end with the removal of benign tumors, but the patient must follow up his condition regularly with many doctors, in order to reduce the recurrence of the disease as much as possible, and the most prominent doctors who must follow up with them are:
Gastroenterologists.
Specialists in colorectal and general surgery.
Endocrinologists.
Primary care physicians.
Oncologists.
Prevention of familial adenomatous polyposis
The only way to prevent this disease is to reduce the possibility of children contracting it, as it is a genetic disease, and this is done in the following sequence:
Taking a sample of semen from the husband and taking one or more eggs from the wife.
The fertilization of the sperm with the egg and the study of the genes that occur as a result of this fertilization, especially the APC gene.
The implantation of the egg in the mother's womb, so that the fetus develops in its many stages naturally.
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