Congenital hypertrophy of retinal pigment epithelium (CHRPE) as a marker for familial adenomatous polyposis (FAP).

Seventy-eight patients from 26 families were examined to evaluate the potentiality of congenital hypertrophy of retinal pigment epithelium (CHRPE) as a phenotypic marker for familial adenomatous polyposis (FAP). The examined subjects were divided into three different groups: Group I, patients with FAP without extra colonic manifestations (ECM); Group II, patients with FAP and ECM (desmoids/osteomas/upper gastrointestinal adenomas); and Group III, individuals at risk without FAP. Of 24 Group I patients (median age 18 years) 16 had CHRPE compared with 14 out of 24 patients (median age 29 years) in Group II and only three out of 30 patients in Group III. The overall sensitivity of CHRPE for FAP was 70% (+/- 13%) without any difference related to ECM; the predictive value was 92%. The specificity calculated from Group III (median age 26 years) was 90%, but the results should not be considered as definitive because a longer follow-up to determine the appearance of adenomas is required. The data suggest that examination for CHRPE is an inexpensive, non-invasive test for FAP, but the absence of retinal lesions does not eliminate the necessity for adequate follow-up of individuals at risk.

Colonoscopy in ostomy patients. Results at the first postoperative examination.

Patients with a personal history of rectal cancer are considered at high risk for metachronous large-bowel primaries. Since a malignant growth was the main reason for performing a colostomy in patients followed at the centers of the authors' association (AISTOM), a correct follow-up approach for these patients is very important. A multicentric clinical trial was thus carried out to evaluate the efficacy of transstomal endoscopic exploration (TEE) of the residual colon, and data collection began on May 31, 1984. Nine hundred fifty-seven patients were submitted to TEE after curative abdominoperineal resection (Miles) for rectal cancer. The male-female ratio was 1.3; 89.6 percent of the patients were over 50 years of age. A family history of large-bowel cancer was present in 18 percent, and in 23 percent of the patients the cancer was associated with synchronous adenomas. Only 31 percent of the patients had colonoscopy or double-contrast barium enema x-ray beyond the neoplastic area before surgery. TEE was done in 96.8 percent of the patients; in 3.3 percent the examination was not possible, mainly for stenosis of the stoma (in 2.3 percent). In 82 percent of the patients a complete large-bowel exploration was possible: a new large, bowel cancer was found in 22 patients (2.2 percent) and an adenoma in 183 patients (19.1 percent). These results show that, because it is safe, practical, and effective, endoscopy plays an important role in the follow-up of ostomates.

Causes of death and postsurgical survival in familial adenomatous polyposis: results from the Italian Registry. Italian Registry of Familial Polyposis Writing Committee.

Causes of death were evaluated among 350 deceased patients with familial adenomatous polyposis (FAP) recorded in the Italian Polyposis Registry: 78.1% were due to colorectal cancer, 9.5% to extracolonic cancer (more than half of the upper gastrointestinal tract), 3.6% to desmoid tumors, and 8.8% to other causes. The age at diagnosis among 604 patients was studied in relation to presence of symptoms at presentation and presence of colonic cancer at surgery. In asymptomatic patients younger than 30 years the risk of colonic cancer was 3.3% and in symptomatic patients older than 40 it was 80%. A life-table analysis showed that postsurgical survival among patients without cancer at colectomy was 68% after 30 years, whereas that of patients with cancer was 41% after 10 years. The alternative prophylactic treatments of total colectomy with ileorectal anastomosis versus total proctocolectomy (IRA vs. IAA) were compared in terms of postsurgical survival. Both treatments showed a survival of 83% after 10 years. The risk of cancer in the rectal stump after IRA was 14.5% after 15 years and 25.2% after 25 years; the corresponding risks of dying from it were 4.3% and 9.3%, respectively.