Diagnosis of familial adenomatous polyposis

Familial adenomatous polyposis (FAP) is a hereditary disease with autosomal dominant transmission, it is a practically 100% precancerosis. For detection of further patients in the family careful examination of the patient and all subjects at risk, i.e. above all grade 1 relatives, is decisive. The presented paper summarizes the author's own experience with the follow up and examination of a group of 96 patients from 42 families. The group of patients has been assembled gradually since 1967. The basis of the examination is preparation of a pedigree, somatic examination, endoscopic examination of the large intestine and the oral portion of the digestive tract. Examination of the ocular fundus is valuable as it evaluates the presence of congenital hypertrophy of the retinal pigmented epithelium (CHRPE). A positive finding in relatives permits conclusions on the presence of FAP. Most evidence is provided by molecular genetic examination at the DNA level which makes presymptomatic diagnosis of FAP possible.