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Familial adenomatous polyposis of the colon (FAP) is an inherited disease whose symptoms are caused by the presence of multiple polyps in the large intestine. If they are not treated, they will turn into cancer, and the risk is almost 100%. What are the symptoms of familial polyposis of the large intestine? What is the treatment?

Familial adenomatous polyposis of the colon (FAP syndrome)is a disease whosesymptomsare caused by multiple polyps in the large intestine. If they are not treated, they will turn into colorectal cancer, and the risk is almost 100%. There are several forms of familial polyposis syndrome: Gardner's syndrome, Turcot's syndrome, Peutz-Jeghers syndrome.

Familial adenomatous polyposis of the colon - causes

The disease is caused by a hereditary genetic mutation (most often in the APC gene).

Familial adenomatous polyposis of the colon - symptoms

Familial polyposis of the large intestine is characterized by the development of numerous (from 100 to even a thousand) polyps with which the mucosa of the entire large intestine, especially the rectum, is dotted. Some of them can also be found in the higher parts of the digestive tract, even in the stomach. They may be asymptomatic for many years. Only when they get bigger can they cause:

FAP symptoms appear in the second decade of life, although rare cases of the disease are observed even in the few-year-olds.

  • rectal bleeding
  • diarrhea or constipation
  • stomach pains
  • enlarged part of the abdomen
  • weight loss

In half of patients with familial polyposis of the large intestine, polyps are already around the age of 15, and at the age of 35, 95% have polyps. sick.

In addition, there are symptoms characteristic of:

  • of Gardner's syndrome - it is familial polyposis with symptoms outside the colon. It is characterized by changes in the bones of the jaw, mandible and in the bones of the skull, as well as epidermal cysts (mainly located on the face, scalp and trunk), and retinal fibromas and discoloration. However, one of the firstthe symptoms of the disease are discoloration of the retina
  • of Turcot's syndrome - involves a neoplasm in the central nervous system, most often it is a cerebellar neoplasm
  • Peutz-Jeghers syndrome - characterized by the presence of polyps of the gastrointestinal mucosa and the presence of melanosis (discoloration) of the mucosa and skin around the lips, mouth, face, genital area and hands
Important

The familial adenomatous polyposis syndrome may also be accompanied by other malignant neoplasms, such as thyroid cancer, hepatoblastoma, pancreatic cancer, stomach cancer, adrenal gland cancer, brain cancer.

Familial adenomatous polyposis of the large intestine - diagnosis

If familial polyposis of the large intestine (FAP) is suspected, genetic analysis and endoscopy of the large intestine (colonoscopy) are performed. Additionally, tests are performed to check if there are parenteral changes (e.g. ultrasound of the abdominal cavity, ultrasound of the thyroid gland, ophthalmological examination - due to discoloration of the retina).

Important

In families with this type of polyposis, it is recommended to perform preventive examinations (usually sigmoscopy) in its youngest members (from the age of 10) once a year. DNA tests can also be performed to detect the mutant gene.

Familial adenomatous polyposis of the colon - treatment

When familial polyposis develops, the only way to avoid cancer is to surgically remove the entire colon (colectomy).

If a person is not treated properly, they will develop colon cancer. It also happens on average at the age of 40.

Familial adenomatous polyposis of the large intestine - prognosis

Prophylactic removal of the large intestine, performed in a timely and appropriate manner, allows you to extend the life of patients on average from 45 to 60 years.

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Category:

Genetic diseases