Familial adenomatosis of the colon: current state of the problem

Abstract

The urgency of the problem of familial adenomatosis of the colon (FAC) is caused both by the severity of the disease with the inevitable development of cancer without timely treatment, and the involvement of the patient's blood relatives in this problem. Due to the rare incidence of this disease, many issues require discussion. Aim. To determine the possibility of timely treatment of FAC patients maintaining a satisfactory quality of life. Materials and methods. The data on 5 FAC patients and 12 their blood relatives were studied. Clinical, endoscopic and genetic characteristics of the disease and treatment were analyzed. Results. demonstrated that family history, genetic and endoscopic examinations allow diagnosis of FAC. Colectomy with rectal resection and the creation of a small intestine reservoir with reservoir-rectal anastomosis provide a sufficient quality of life for patients. Examination of the patient's blood relatives reveals new patients requiring additional examination and treatment. Conclusion. The problem of FAC is multidisciplinary and involves therapists, gastroenterologists, pediatricians, geneticists, endoscopists, radiologists, surgeons and oncologists. Only a timely diagnosis can help the patient to undergo radical treatment before the development of colon cancer.

Keywords

• familial adenomatosis of the colon
• examination
• treatment