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  • 1
    Electronic Resource
    Electronic Resource
    Quality of life after prophylactic colectomy and ileorectal anastomosis in patients with familial adenomatous polyposis (1996)
    Springer
    Diseases of the colon & rectum 39 (1996), S. 1404-1408 
    Details
    ISSN: 1530-0358
    Keywords: Prophylactic surgery, outcome ; Familial adenomatous polyposis ; Hereditary nonpolyposis colorectal cancer
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract BACKGROUND: Prophylactic colectomy or proctocolectomy is standard treatment for colorectal manifestation of familial adenomatous polyposis (TAP), a dominantly inherited disorder for which the risk of developing colorectal cancer in an untreated patient is close to 100 percent. Hereditary nonpolyposis colorectal cancer (HNPCC) is also dominantly inherited but has a lower risk of colorectal cancer than FAP and does not have a clinically obvious phenotype. The role of prophylactic colectomy in patients with HNPCC is controversial. PURPOSE: This study was performed to examine the outcome of colectomy and ileorectal anastomosis (TRA) so its use as a prophylactic procedure can be better evaluated. METHODS: Records of all patients undergoing IRA for FAP between 1985 and 1993 were reviewed. Demographic data and data about the operation were collected. Surgical outcome data included length of hospital stay, complications, bowel function, quality of life, and patient satisfaction. RESULTS: There were 51 patients with a median age of 28 years; 24 were male. All but eight patients were asymptomatic, and all had less than 1,000 polyps in the resected specimen. Mean surgery time was 3.5 hours, mean blood loss was 406 ml, and median length of hospital stay was seven days. There were no deaths, and eight patients (16 percent) had complications. Mean number of stools per day after median follow-up of 4.2 years was 3.6. Only 11 patients had nighttime stooling. Four patients reported seepage, 9 had some incontinence, and 16 had urgency. Quality of life, rated on a scale of 0 to 10, was 7 or above in 44 of 48 assessed patients. Quality of health was rated 7 or higher in all 48 patients, energy level was 7 or higher in 39 patients, and overall happiness with surgery was 7 or higher in 47 patients. CONCLUSION: Colectomy and IRA is a relatively safe operation that results in minimum disturbance of bowel function. Patient satisfaction is usually high. Prophylactic colectomy can be offered to HNPCC gene carriers with a greater understanding of the likely outcome of surgery.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02054529
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  • 2
    Electronic Resource
    Electronic Resource
    Family history of colorectal cancer (2000)
    Springer
    Diseases of the colon & rectum 43 (2000), S. 1540-1544 
    Details
    ISSN: 1530-0358
    Keywords: Colorectal cancer ; Family history
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract PURPOSE: A family history of colorectal cancer is an important risk factor for the disease. A positive family history means that endoscopic screening should be recommended and a strongly positive family history raises the possibility of a dominantly inherited syndrome. This study was performed to find how often and how accurately a family history of colorectal cancer was recorded in the charts of patients on a colorectal surgical ward. A second aim was to see whether family history-taking could be improved. METHODS: The charts of 100 inpatients on a colorectal surgical floor were reviewed for the presence of a family history of colorectal cancer. Any chart documentation was compared with a family history obtained by a detailed interview. The chart review was repeated four years later. RESULTS: In the initial review, we found that a family history was recorded in 45 of 100 charts. It was accurate for colorectal cancer in 36 charts. Four years later, the rate of family history recording increased to 61 of 96, whereas the accuracy rate (45/61) did not change. Responses to a simple screening question asking about a family history of colorectal cancer were accurate in 77 percent of patients. CONCLUSIONS: Not all colorectal surgical patients have their family histories recorded, and even when it is recorded, it is not always correct. Despite improvement during a four-year period, there is still room for further improvement in the recording of a family history of colorectal cancer. Physicians should make an effort to ask this question and document the response in the hospital chart.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02236735
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  • 3
    Electronic Resource
    Electronic Resource
    Prior pregnancy ameliorates the course of intra-abdominal desmoid tumors in patients with familial adenomatous polyposis (2000)
    Springer
    Diseases of the colon & rectum 43 (2000), S. 445-450 
    Details
    ISSN: 1530-0358
    Keywords: Familial adenomatous polyposis ; Desmoid tumors ; Estrogen
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract PURPOSE: Intra-abdominal desmoid tumors occur in 12 percent of patients with familial adenomatous polyposis. A minority grow quickly and are lethal, most are relatively inert, and some cause problems by obstructing adjacent organs. Desmoid tumors may be estrogen-dependent, and estrogen-blocking drugs are part of the usual treatment of these tumors. This study was performed to examine the effect of pregnancy on the course of patients with familial adenomatous polyposis and intra-abdominal desmoids. METHODS: All females with familial adenomatous polyposis and an intra-abdominal desmoid treated or followed up at this institution were eligible. Stable, asymptomatic desmoids were followed up yearly with examination and CT scan. Growing or symptomatic desmoids were followed up at least every six months. Maximum tumor size was grouped as follows: 〈10 cm, 10 to 20 cm, and 〉20 cm. A change in tumor size was defined as a change of ±50 percent or more of maximum diameter. Stable tumors showed no change in diameter during the study period; variable growth was defined as a significant change in either direction that was followed by a return to previous dimensions or a stabilization of growth. Rapid growth was a doubling of diameter within three months. Pregnant females were compared with nonpregnant females. Subgroups of females were matched for age at diagnosis of desmoid. RESULTS: Twenty-two females had never been pregnant, whereas 25 had been pregnant at least once. Eleven pairs were matched for age. There were no differences between groups in the incidence of extracolonic manifestations of familial adenomatous polyposis, family history of desmoids, number or type of surgeries done for familial adenomatous polyposis, length of follow-up, or time from surgery to desmoid diagnosis. Desmoids in pregnant females had a significantly more benign course: 18 were stable (vs. 6 nonpregnant females), 2 had variable growth (vs. 10), 1 had rapid growth (vs. 5), and 4 disappeared (vs. 1). There were also trends to smaller, less symptomatic tumors requiring treatment less often in pregnant females. CONCLUSIONS: Pregnancy seems to ameliorate the course of abdominal desmoid tumors significantly in females with familial adenomatous polyposis. This finding raises questions about the most appropriate hormonal treatment for these tumors. Perhaps progesterone or prolactin therapy should be tried, alone or in combination with estrogen. If further studies confirm these findings, females with a family history of desmoid tumors should not be advised against pregnancy.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02237185
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  • 4
    Electronic Resource
    Electronic Resource
    Spontaneous mutation in familial adenomatous polyposis (1990)
    Springer
    Diseases of the colon & rectum 33 (1990), S. 52-55 
    Details
    ISSN: 1530-0358
    Keywords: Familial adenomatous polyposis ; Spontaneous mutation
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A retrospective review of the familial adenomatous polyposis registry at the Cleveland Clinic Foundation revealed an incidence of spontaneous mutation in familial adenomatous polyposis (FAP) of 22 percent of family kindreds. These patients were reviewed retrospectively and compared with the total FAP population followed at The Cleveland Clinic Foundation with respect to the onset of disease, the incidence of carcinoma in the resected colon, and incidence of extracolonic manifestations. Review of the characteristics and presentations of these patients suggested that these individuals may harbor a more severe form of FAP. This may be due, in part, to the delay in diagnosis and, therefore, a higher rate of development of colorectal carcinoma and possibly duodenal adenomas. There is also a demonstrable higher rate of extracolonic manifestations of FAP present in this subset of patients. When selecting the initial type of prophylactic colonic resection the surgeon should bear in mind the increased incidence of extracolonic manifestations of the disease in this group of patients and their potential for complications.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02053203
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  • 5
    Electronic Resource
    Electronic Resource
    Predictive value of congenital hypertrophy of the retinal pigment epithelium as a clinical marker for familial adenomatous polyposis (1990)
    Springer
    Diseases of the colon & rectum 33 (1990), S. 1003-1008 
    Details
    ISSN: 1530-0358
    Keywords: Familial adenomatous polyposis ; Congenital hypertrophy ; Retinal pigment epithelium ; Extracolonic manifestations
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract One hundred forty-eight members of 53 kindreds with familial adenomatous polyposis (FAP) were examined for congenital hypertrophy of the retinal pigment epithelium (CHRPE) and extracolonic manifestations (ECM) to assess the value of CHRPE as a predictive marker for FAP. Based on eye examination results, the families were divided into 2 groups. In a first group of 34 families, all 61 members diagnosed as having polyps and 13 of the 33 patients at risk had 4 or more lesions distributed in both eyes. By contrast, in a second group of 18 families, all 32 polyposis patients and all 18 members at risk had less than 4 lesions. Extracolonic manifestations were present in 26 of 34 families in the first group and in 11 of 18 families in the second group. Data on one family with ambiguous ancestry were reviewed separately. The existence of 4 or more CHRPE lesions distributed in both eyes seems to be a congenital marker for FAP, present in 65.4 percent of families. When present in a family: 1) it is found in all diagnosed patients in that family, 2) can therefore be considered predictive for the development of polyps in other family members who carry the trait, and 3) if confirmed by longer follow-up, may possibly preclude members without the trait from further evaluation and surveillance.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02139213
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  • 6
    Electronic Resource
    Electronic Resource
    Noncytotoxic drug therapy for intra-abdominal desmoid tumor in patients with familial adenomatous polyposis (1992)
    Springer
    Diseases of the colon & rectum 35 (1992), S. 29-33 
    Details
    ISSN: 1530-0358
    Keywords: Intra-abdominal desmoid tumor ; Familial adenomatous polyposis ; Nonsteroidal anti-inflammatory drugs ; Antiestrogen drugs ; Prostaglandin synthesis
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Forty of 416 patients with familial adenomatous polyposis were noted to have intra-abdominal desmoid tumors, and a subgroup of 16 were treated with noncytotoxic drug therapy. Drugs used were sulindac (14 patients), sulindac plus tamoxifen (3 patients), indomethacin (4 patients), tamoxifen (4 patients), progesterone (DEPO-PROVERA®; Upjohn Co., Kalamazoo, MI) (2 patients), and testolactone (1 patient). Therapy with these drugs for continuous periods of six months or more resulted in three complete and seven partial remissions. When treated patients were compared with untreated patients (n=12), there were significant benefits for the treated group, both in reduction of desmoid size and in improvement of symptoms, despite the inherent selection bias against this. Sulindac was the only drug used in enough patients to permit independent evaluation of its effect, with one complete and seven partial reductions of tumor size. Some patients had a delayed response to sulindac, with tumor shrinkage occurring after an initial period of tumor enlargement. When using sulindac for the treatment of desmoid tumors, this phenomenon should be considered.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02053335
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  • 7
    Electronic Resource
    Electronic Resource
    Mortality in patients with familial adenomatous polyposis (1990)
    Springer
    Diseases of the colon & rectum 33 (1990), S. 639-642 
    Details
    ISSN: 1530-0358
    Keywords: Familial adenomatous polyposis ; Colorectal carcinoma ; Desmoid tumors ; Periampullary carcinoma
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The authors identified 132 patients who died with a documented diagnosis of familial adenomatous polyposis (FAP). A review of the medical records, autopsy reports, and in-depth discussion with local physicians and well-informed family members was performed. It was impossible, even after the review, to ascertain the exact cause of death in 22 patients. In the remaining patients, the cause of death was as follows: metastatic colorectal carcinoma, 64 patients (58.2 percent), (colon, 49 [44.5 percent], rectal, 15 [13.6 percent]); desmoid tumors, 12 (10.9 percent); periampullary carcinoma, 9 (8.2 percent); brain tumors, 8 (7.3 percent); perioperative mortalities, 5 (4.5 percent); adrenal carcinoma, 1 (0.9 percent); and abdominal carcinomatosis, 1 (0.9 percent). Ten patients died of causes not related to FAP. The major causes of death in 36 patients who underwent prophylactic colectomy were desmoid tumor and periampullary malignancy. This finding underscores the importance of lifelong surveillance and periodic endoscopic evaluation in patients with FAP.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02150736
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  • 8
    Electronic Resource
    Electronic Resource
    Incidence of neoplastic polyps in the ileal pouch of patients with familial adenomatous polyposis after restorative proctocolectomy (1998)
    Springer
    Diseases of the colon & rectum 41 (1998), S. 552-556 
    Details
    ISSN: 1530-0358
    Keywords: Familial adenomatous polyposis ; Restorative proctocolectomy ; Adenoma
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract PURPOSE: Although adenomatous polyps and even adenocarcinomas have been found in the terminal ileum of patients with familial adenomatous polyposis, the prevalence of neoplastic changes in the pouches of patients who have undergone restorative proctocolectomy is unknown. The objective of this study was to determine the frequency of pelvic pouch neoplasia in famial adenomatous polyposis patients after restorative proctocolectomy. METHODS: Patients in a polyposis registry who had undergone restorative proctocolectomy were recruited. Demographic, surgical, pathologic, and endoscopic data were obtained from patient records. Video pouchoscopy was done after two enemas and representative biopsies were taken. RESULTS: Of 102 eligible patients, 26 (17 males and 9 females) participated. Median age at ileal pouch-anal anastomosis was 31 (range, 12–58) years. Median follow-up period was 66 (11–156) months. Adenomas were found in the pouch of 11 (42 percent) patients, in the terminal ileum above the pouch in 1 patient, and in the anal canal of 4 patients. Among patients with pouch polyps, three patients had one lesion, three patients had two lesions, and five patients had more than ten lesions. The incidence of polyps increased steadily with time from restorative proctocolectomy. There was no relation between the incidence of pouch polyposis and the severity of colonic or duodenal disease. CONCLUSIONS: Proctocolectomy and ileal pouch-anal anastomosis is associated with a significant risk of pouch neoplasia in familial adenomatous polyposis patients. The severity of pouch adenomas was not related either to the severity of colonic or duodenal disease. The pelvic pouches of all patients with familial adenomatous polyposis who have undergone restorative proctocolectomy should be examined periodically.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02235258
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  • 9
    Electronic Resource
    Electronic Resource
    Evaluation of polymorphic genetic markers for linkage to the familial adenomatous polyposis locus on chromosome 5 (1990)
    Springer
    Diseases of the colon & rectum 33 (1990), S. 740-744 
    Details
    ISSN: 1530-0358
    Keywords: Familial adenomatous polyposis ; Restriction fragment length polymorphism ; Chromosome 5q
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A gene associated with the inherited syndrome, familial adenomatous polyposis (FAP), has been localized to the long arm of chromosome 5 near the 5q21-22 region, and markers that identify genetic polymorphisms near this locus are now available. The authors evaluated several of these markers for linkage to the FAP trait in 11 families entered in the Cleveland Clinic Polyposis Registry. The original probe that established linkage to the FAP locus (C11p11) has limited utility for family studies because of low heterozygosity and distance from the FAP gene. Other probes, however, should be useful for assessing FAP inheritance by restriction fragment length polymorphism analysis, for presymptomatic diagnosis of the disease.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02052318
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  • 10
    Electronic Resource
    Electronic Resource
    Gastroduodenal polyps in patients with familial adenomatous polyposis (1992)
    Springer
    Diseases of the colon & rectum 35 (1992), S. 1170-1173 
    Details
    ISSN: 1530-0358
    Keywords: Familial polyposis ; Duodenum ; Adenomas ; Fundic gland polyp ; Esophagogastroduodenoscopy
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A review of the endoscopy reports and pathology results from esophagogastroduodenoscopy (EGD) of all patients with familial adenomatous polyposis (FAP) undergoing such an examination was performed. Two hundred fortyseven patients were identified, with an overall prevalence of duodenal adenomas of 66 percent and of fundic gland polyps of 61 percent. Analysis of our more recent experience (1986 to 1990) shows the prevalence to be 88 percent and 84 percent, respectively. A normal-appearing papilla was adenomatous in 50 percent of cases. No case of periampullary carcinoma developed in patients under surveillance. Routine EGD is indicated for patients with FAP. Duodenal adenomas and fundic gland polyps will occur in the majority of patients.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02251971
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