The value of screening and central registration of families with familial adenomatous polyposis. A study of 82 families in The Netherlands.
In 1984 a national registry of families with familial adenomatous polyposis was set up in The Netherlands to promote screening in those families. Eight-two families had been registered by the end of 1988. Analysis of the pedigrees showed that 204 family members at risk had not yet been screened. The diagnosis of familial adenomatous polyposis was histologically confirmed in 230 patients. These patients were subdivided into two groups. Group A comprised patients with familial adenomatous polyposis referred because they were symptomatic, and Group B relatives of these patients who were found by screening to have familial adenomatous polyposis. The authors compared these groups with respect to the occurrence of colorectal carcinoma. Fifty-four patients were found to have a colorectal carcinoma at the time of diagnosis of familial adenomatous polyposis, i.e., 49 of the 104 patients in Group A (47 percent) and five of the 126 patients in Group B (4 percent). The average age at diagnosis of the 104 patients in Group A was 35 years (range, 13 to 66 years) and that of the 126 patients in Group B was 24 years (range, 8 to 59 years). By the age of 40 years, 90 percent of the patients in group B had been diagnosed. Late onset of familial adenomatous polyposis was found in four families. Endoscopy and/or radiography of the upper digestive tract were (was) performed in 44 of the 230 patients. Nineteen patients (43 percent) were found to have polyps in the stomach or duodenum, or both. In our series, only one patient died from cancer of the upper digestive tract (ampullary carcinoma). These results show conclusively that screening leads to the early detection of familial adenomatous polyposis. The value of a national registry is proved by the finding of many at-risk family members who had not previously been screened. Screening should start between the ages of 10 and 12 and should continue up to the age of 50. In the rare cases of families with an apparently late onset of familial adenomatous polyposis, screening should be continued up to age 60. More studies are needed to determine the natural history of polyps in the upper digestive tract.
Vasen
H F
HF
Foundation for the Detection of Hereditary Tumours, Utrecht, The Netherlands.
Griffioen
G
G
Offerhaus
G J
GJ
Den Hartog Jager
F C
FC
Van Leeuwen-Cornelisse
I S
IS
Meera Khan
P
P
Lamers
C B
CB
Van Slooten
E A
EA
D011125:Adenomatous Polyposis Coli / Q000175:diagnosis / Q000453:epidemiology*; D000293:Adolescent; D000328:Adult; D000367:Age Factors; D000368:Aged; D005260:Female; D006801:Humans; D008297:Male; D008403:Mass Screening; D008875:Middle Aged; D009426:Netherlands / Q000453:epidemiology; D012042:Registries