In 1951, a disease was described that is characterized by multiple cutaneous, subcutaneous lesions. They appear together with tumor processes of bones and soft tissues. This syndrome was named after the first doctor who discovered such a pathology, E. Gardner.
In another way, the disease is called hereditary adenomatosis, polyposis. Often it is combined with cancer of the thyroid gland, adrenal gland, adenoma and other organs.
Causes of development of
Syndrome is a variant of familial adenomatous polyposis of the gastrointestinal tract. This is a hereditary disease that affects mainly the large intestine.
The reason for this is the alteration of the APC gene located on chromosome 5q21.However, to this day it is not clear what causes a mutation.
Symptoms of Gardner's Syndrome
Manifestations of the disease are different. They can appear even before the onset of formation. Symptoms depend on the size and number of polyps. If they are single, then complaints are absent, and the disease is detected accidentally.
The pathological process is more often formed in the large intestine, sometimes the duodenum is also affected. The first neoplasms appear after 10 years, on the third ten.
The older the person becomes, the higher the probability that the polyps will turn into malignant ones.
Patients often show cysts, anomalies in the development of teeth and jaws. There is their early and complete loss, there are additional teeth or cysts. Another characteristic complex of manifestations is formation on the ribs, arms, legs.
The photo shows the hand of a man with Gardner's syndrome
. At later stages, there is a disorder of the gastrointestinal tract. The chair becomes unstable, diarrhea is detected, and the pain in the peritoneum increases. A person notes a significant weight loss, there are intestinal bleeding.
Diagnosis of pathology
Depending on the manifestation, several subtypes of the syndrome are distinguished:
- skin-bone,
- is osteo-intestinal.
With a pronounced clinical picture, the doctor will put the correct diagnosis without problems. Especially if you know a family anamnesis. Diagnostic significance is due to congenital hypertrophic pigmentation of the retina.
To clarify the disease used:
- endoscopic examination of the intestine,
- radiological examination of the facial bones.
X-ray is an oval or round defect with clear contours. Education is detected and finger research. They can be of different sizes, depending on the degree of the disease.
Visual assessment is possible with the application of the rectomanoscopy. It also allows to determine the degree of malignancy. During the study, the entire gastrointestinal tract is examined, together with the upper sections. This is due to the fact that 50% of patients have pathological diseases in the stomach.
Not so long ago, genetic methods were used to identify the preclinical stage of the disease and to predict the course. For this, the blood of a large and his blood relatives is taken. This allows you to properly assign treatment.
To differentiate diseases allows:
- blood test, detecting anemia,
- stool analysis, helping to identify latent bleeding,
- skeleton scintigraphy of bones, allowing to identify bone tumors;
- tomography of the jaw;
- US of internal organs.
Treatment of
Syndrome The only correct method of treatment is surgical. Despite the great progress in studying the disease, it is impossible to prevent and prevent its development.
During surgery, all parts of the colon are removed, where there are polyps.
If the disease is detected at the initial stage and the polyps are only beginning to appear, then the endoscopic method is used, which allows to get rid of the problem less traumatically.
The removal of the full colon is performed with complete damage to it, as well as with the development of cancer. Sometimes a doctor decides to form a reservoir from the small intestine. All operations are classified as complex, therefore they require high qualification of the surgeon and anesthesiologist.
Life expectancy
Forecast unfavorable. If you do not start treatment in time, then the probability of the degeneration of the disease into cancer is 100% to forty years.