Gardner's syndrome is one of the types of familial polyposis, consisting of numerous polyps in the colon, osteomas (especially in the mandible and in the bones of the skull cap) and tumors, epidermal cysts as well as retinal pigment epithelial hyperplasia. The sick require medical care and he alth monitoring.

Gardner's syndromeis inherited autosomal dominantly. Most cases are associated with a mutation in the APC gene. The disease can also appear spontaneously as a result of de novo mutation, damage to the RAS gene on chromosome 12, damage to the p53 gene on chromosome 17, or loss of DNA methylation.

The prevalence of familial adenomatous polyposis is about 1/10000 live births, it manifests itself equally in both sexes. Gardner's syndrome is much less frequent.

In the case of familial adenomatous polyposis and one of its varieties - Gardner's syndrome, it is important that the whole family is covered by medical care and genetic counseling.

Gardner's syndrome - symptoms

  • numerous adenomatous polyps of the large intestine

A polyp is any protrusion of the mucosa above the surface, facing the lumen of the intestine. The most common type in adults is adenomas, which are associated with the proliferation of glandular epithelial cells.

Polyps are precursors of neoplastic changes. In Gardner's syndrome, they occur in the stomach and small intestine.

  • desmoid tumors

Desmoid tumors are usually harmless, located retroperitoneally or in the mesentery. They appear after proctocolectomy and occur in 10% of patients with familial polyposis of the large intestine. Desmoid tumors, although benign, may constrict surrounding organs due to their large growth, and consequently lead to organ failure.

  • retinal degeneration

A characteristic change in this syndrome is retinitis pigmentosa. There are ocular changes: discrete oval or kidney-shaped discoloration with a areola in one eye in most patients.

They are important for diagnostics as they are present from birth or appear little later, so they can be detected faster.

The rest of the symptoms, especially from the ductThe digestive tract is revealed later.

  • mesodermal tumors like osteomas located in the mandible and skull bones
  • epidermal cysts

Gardner's syndrome is characterized by the presence of multiple epidermal cysts and fibromas on the skin of the face and scalp.

  • Symptoms that the patient may observe

The most important symptom is a change in the rhythm of bowel movements, constipation.

The main symptoms are:

  • diarrhea
  • stomach ache
  • slimy stools
  • rectal bleeding

They appear around the age of 10 at the earliest.

Usually, however, the course of Gardner's syndrome is uncharacteristic.

In untreated cases, there is always malignant polyps in the colon and quite often in the duodenum.

Gardner's syndrome fosters cancer

Gardner's syndrome predisposes to cancer. These include:

  • tumors around Vater's nipple
  • medulloblastoma
  • craniopharyngioma
  • thyroid cancer
  • osteosarcoma and chondrosarcoma
  • liposarcoma
  • hepatoblastoma

Gardner's syndrome - diagnosis

Colonoscopy is the examination of choice. This examination allows for the removal of polyps and a histopathological examination.

The doctor diagnoses Gardner's syndrome based on the result of the colonoscopy.

Gardner's syndrome - treatment

In patients with Gardner's syndrome, prophylactic colectomy, i.e. partial or complete surgical removal of the large intestine, is recommended with careful monitoring of the patient's condition. When using sparing treatment, endoscopic examinations should be performed to monitor changes in the intestine.

About the authorNatalia MłyńskaStudent of medicine at the Medical University of Lodz. Medicine is her greatest passion. He also loves sports, mainly running and dancing. She would like to treat her future patients in such a way as to see them as a human being, not only a disease.

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Category:

Genetic diseases