In detail

Gardner's syndrome

Gardner's syndrome

Gardner's syndrome is a fairly rare hereditary disease that mainly affects the colon, but also the rectum. The condition manifests itself especially in adolescence. It is considered to be a type of familial adenomatous polyposis (the appearance of several polyps on the inner surface of the rectum and colon). There is a very high risk that they will become malignant and turn into cancer if they are not discovered and monitored medically.

What are the causes of the syndrome?

The disease is genetic and is transmitted hereditary. This means that it can be passed on in a family from generation to generation. It occurs as a result of mutations in a gene called APC (adenomatous polyposis coli) located on chromosome 5. It is a tumor suppressor gene. It has the role of stopping the excessive proliferation of cells in the body. When mutations occur at its level, the cells multiply without harm and give rise to the polyps. This gene is found both in the mother and in the father. If for some genetic diseases the targeted genes must be defective from both parents to be transmitted to the fetus, in the case of Gardner's syndrome it is sufficient for one of them to have the gene modified for the disease to be transmitted to the child.

What are the symptoms?

Although it is a hereditary disease, it does not manifest at birth and is often asymptomatic. Doctors claim that symptoms, if they occur, are common only in adolescence or as a young adult (around 20-22 years old). The main symptom of the disease is the presence of polyps on the inner surface of the colon or rectum. Polyps are small excretions (made up of several cells gathered together) that have a benign character (ie they are not cancerous). In some cases the following manifestations may occur: blood stools; Melenic chairs (very dark in color); abdominal cramps; mucus stools; diarrhea or constipation; vomiting. And dental pains or those caused by benign bone tumors or soft tissue that can occur in Gardner's syndrome. Other signs that may indicate the presence of the syndrome are: fibroids; lipomas; desmoid tumors; dermoid cysts; pigmented skin lesions.

What are the risks and complications of Gardner's syndrome?

Although the polyps that are formed are benign, there is a very high risk that they will degenerate into cancer. There are several types of cancer associated with this condition, the most risky being colorectal. If Gardner's syndrome is left untreated then there is a 100% risk that polyps will develop into this type of cancer. Other types of cancer that may occur: small bowel cancer (4-12%); thyroid carcinoma (very high risk in women); pancreatic cancer (2%) hepatoblastoma (a type of liver cancer) - 1.5%; malignant tumors of the central nervous system or brain (less than 1%); stomach cancer (0.5%) etc.

How is Gardner's syndrome diagnosed?

Since the disease is extremely rare and most often asymptomatic, polyps are accidentally discovered when doctors investigate other conditions following certain symptoms of the patient. Endoscopy is the one that most quickly discovers polyps. In order for the disease to be diagnosed it is necessary to carry out several investigations: laboratory tests (thyroid gland screening, chromosome study); imaging tests (x-rays, ultrasounds. computed tomography, magnetic resonance imaging); genetic tests etc.

How is Gardner Syndrome treated?

If malignancy of the polyps is detected when the syndrome is diagnosed, then the colectomy is urgently required. This is a surgical procedure by which the colon is partially or totally removed (depending on the type of cancer developed). Sometimes this method is used even if they are not yet cancerous, for prophylactic purposes. Otherwise, the evolution of the polyps is constantly monitored through regular visits to the doctor. They will resort to regular digestive endoscopes to track whether or not they have any changes. Also, if Gardner's syndrome is discovered, it is compulsory to test for grade 1 rashes for this disease. Children born to parents suffering from this disease should be constantly monitored and subjected to periodic investigations. They should have a colonoscopy every 1-2 years starting at the age of 10.

Tags Genetic diseases Hereditary diseases