Screening practice for familial adenomatous polyposis : the potential for regional registers

Existing screening practice for familial adenomatous polyposis (FAP) was evaluated in 47 families with FAP notified to the West Midlands Polyposis Register between February 1988 and July 1990. Of these 269 individuals, 107 were known to be affected and 162 were at 50 per cent prior risk of developing FAP; 35 decreased affected individuals from living generations were included in the analysis. Of 105 individuals in the at-risk group aged between 12 and 40 years, only 55 (52 per cent) were under follow-up by bowel examination. Thirty-seven affected individuals had developed colorectal carcinoma before diagnosis; the incidence was three of 51 (6 per cent) in those diagnosed through screening compared with 34 of 53 (64 per cent) in the unscreened group (P < 0.001). A total of 28 individuals (26 per cent of the FAP population) died from advanced colorectal carcinoma; all were from the unscreened population. In 22 (59 per cent) of the cases of colorectal carcinoma and 17 (61 per cent) of the deaths from advanced colorectal cancer there was a positive family history of FAP; these tumours were therefore potentially preventable through screening and prophylactic surgery. Since establishing the register the median age at diagnosis of the affected patients has been reduced from 32 to 23 years (P = 0.0004) and the incidence of colorectal cancer has fallen from 35 to 14 per cent (P < 0.05). It is concluded that by providing more comprehensive case ascertainment a regional register can have a dramatic effect on this largely preventable form of colorectal cancer. Regional registers are recommended as an essential component of screening for this disease.