DEFINITION AND CLINICAL DESCRIPTION
Familial adenomatous polyposis is a hereditary disease. It is characterised by the appearance of hundreds of adenomas (polyps that can evolve into cancerous tumours) in the rectum and colon.
SYMPTOMS AND PREVALENCE
Most patients are asymptomatic. Rectal bleeding may appear when the adenomas become large and numerous. Other, non-specific symptoms may also be found: constipation, diarrhoea, abdominal pain, weight loss. Peripheral disorders are possible, such as dental anomalies or cancers not located in or around the colon.
The disease manifests itself in both sexes, with an average prevalence of five cases per 100,000 persons.
CARE AND TREATMENT
The goal of care is to prevent the appearance of colorectal cancer and to enable good quality of life for the patient. Surgery may be performed to prevent cancer risk. Regular colonoscopies are necessary to monitor any development of cancer.
Diagnosis is based on family history, a clinical exam and endoscopic explorations. Colonoscopy can be used to reveal a large number of polyps. Diagnosis is confirmed by genetic analysis.
Familial polyposis is transmitted in an autosomal dominant manner. Genetic testing is absolutely necessary.