Surveillance in relatives of patients with adenomatous polyposis

Abstract

Registry ascertainment of kindreds with adenomatous polyposis (AP) reduces the incidence of colorectal carcinoma by medical monitoring for offspring and siblings of affected patients. Due to its pleiomorphic genotype and a 50% risk for AP in each patient's progeny, early screening is mandatory. Flexible sigmoidoscopy, averaging from puberty to age 48, annually or every two years, is one diagnostic technique that does not result in excess patient discomfort or cost. Timely examination is facilitated when eye anomalies, osteomas, or epidermoid cysts are present in childhood as potential clinical markers for AP. Denial, misperceptions, and fear may impede surveillance in the absence of education by the registry health care team.

Systematic review of the impact of registration and screening on colorectal cancer incidence and mortality in familial adenomatous polyposis and Lynch syndrome

“…Thirty studies compared CRC incidence and/or mortality in screened and symptomatic groups in FAP including 8016 individuals ( Table S1 , supporting information).…”

“…Gebert and colleagues 22 demonstrated that screening reduced CRC incidence from 65.9 to 10.0 per cent, although no methodology was included in the review, limiting quality assessment. Berk and co-workers 24,33 found a tenfold reduction in CRC incidence between symptomatic and screened groups (57.0 versus 5 per cent).…”

“…Odds ratio Screened Symptomatic Favours no screening 10 500 1 8 of 68 Alm 19 Bussey 9 Utsonomiya and Iwama 20 Järvinen et al 21 Gebert et al 22 Bülow 23 Berk et al 24 Macrae et al 25 Vasen et al 26 Rhodes et al 27 Campbell et al 28 Penna et al 30 Järvinen 29 Goh and Wong 31 Morton et al 32 Bertario et al 34 Bülow et al 35 Goldberg et al 36 De Pietri et al 37 Björk et al 38 Heiskanen et al 40 Ho et al 41 Bülow 12 Garzón-Benavides et al 43 Mallinson et al 14 Dalpatadu et al 44 Gibbons et al 45 11 of 117 38 Funnel plot of studies comparing colorectal cancer incidence by mode of presentation of familial adenomatous polyposis (screened versus symptomatic groups). There was no evidence of significant publication bias reduced CRC incidence from 33.6 to 5.1 per cent and prolonged median survival by 4 years.…”

Adenomatous Polyposis Syndromes: Diagnosis and Management

“…15 Groups from North America, Denmark, Sweden, and Japan have all presented similar results highlighting the importance of the development of registry programs. 4,12,13,18 A recent systematic review regarding the implementation of screening and registry programs, including more than 8,000 patients in 33 published studies, all 33 showed a significant mortality benefit and decrease in the risk of CRC development. 19 Screening recommendations for patients with adenomatous polyposis syndromes have been addressed by several groups.…”