Gardner's Syndrome

Gardner's syndrome is an inherited genetic disease that is fortunately very rare. It is directly related to occurrence of certain malignant diseases and therefore it is good to know some basic information about it.

Causes

The condition is used by mutation of a gene known as APC. The APC gene has a complex functions including regulation of cell division and prevention of tumor formation. There are more possible mutations of APC gene that may cause even other conditions than the Gardner's syndrome. For example, another mutation in APC gene causes a much more common and known condition known as FAP (familial adenomatous polyposis). FAP includes occurrence of hundreds to thousands polyps in the large intestine, but it lacks other symptoms of Gardner’s syndrome. We can also take this issue from the opposite perspective and say that Gardner's syndrome is simply put a variant of FAP accompanied with other symptoms.

Symptoms

Gardner's syndrome manifests with a large number of intestinal polyps in the large colon. Polyps are outgrowths of the mucosa. In Gardner's syndrome, they have character of benign tumors, which have a tendency to malignant changes when left untreated and they change into the colorectal cancer. Unlike FAP, there is a significantly increased risk of thyroid cancer, liver cancer, brain tumors and kidney cancer. People with Gardner’s syndrome relarively often suffer from numerous benign tumors of bone (osteomas) and benign tumors of the subcutaneous tissue (fibroids).

Diagnosis

The diagnosis may be suspected from the above-mentioned clinical symptoms, but the diagnosis must be confirmed by individual genetic testing.

Prevention and treatment

The condition itself can not be prevented as it is inherited and genetically caused. There is reported positive effect of drugs containing acetylsalicylic acid in prevention of development of colorectal cancer, but this is not enough to ensure satisfactory therapeutic approach. The polyps can be removed during colonoscopy, but it is impossible to guard the whole intestine and it must be surgically completely removed. The patients undergo special regular screening to prevent development of various cancers, but the prognosis is poor and patients with Gardner's syndrome only rarely survive more than 50-60 years of age.