The disease is caused by an inherited genetic mutation that is present already in fetal tissue during its intrauterine development. The faulty gene may occur as a new mutation or it is transferred from a diseased parent. The essence of mutation is not so important. Let’s just mention that the result is disrupted control of cell cycle and increased cell proliferation.
The disease targets especially the intestine and the nervous system. The colon is affected by a high number of intestinal polyps that are in fact benign tumors (adenomas). However, these benign polyps have tendency to get malignant and change into colorectal cancer. This is similar to the familial adenomatous polyposis. The nervous system is affected by a more frequent occurrence of brain tumors including the dangerous glioblastoma multiforme and medulloblastoma.
It is important to know family history as the disease tends to have familial occurrence. The large intestine can be examined by colonoscopy; brain and spinal cord are well examinable by computed tomography or magnetic resonance imaging. Definitive diagnosis can be done by special genetic testing, which should find the responsible genetic mutation.
The disease is incurable, we treat only the symptoms. Colon polyps may be removed during the colonoscopy (polypectomy). However, the number of polyps is so high that it is virtually impossible to prevent the colorectal cancer endoscopically and it is advisable to remove the whole large intestine surgically with formation of ileostomy or ileo-anal pouch. Brain tumors may be treated by neurosurgical intervention or irradiated with the Leksell gamma knife.