Familial adenomatous polyposis

Familial adenomatous polyposis (FAP) is characterized by the development of many tens to thousands of adenomas in the rectum and colon during the second decade of life. FAP has an incidence at birth of about 1/8,300, it manifests equally in both sexes, and accounts for less than 1% of colorectal cancer (CRC) cases. In the European Union, prevalence has been estimated at 1/11,300-37,600. Most patients are asymptomatic for years until the adenomas are large and numerous, and cause rectal bleeding or even anemia, or cancer develops. Generally, cancers start to develop a decade after the appearance of the polyps. Nonspecific symptoms may include constipation or diarrhea, abdominal pain, palpable abdominal masses and weight loss. FAP may present with some extraintestinal manifestations such as osteomas, dental abnormalities (unerupted teeth, congenital absence of one or more teeth, supernumerary teeth, dentigerous cysts and odontomas), congenital hypertrophy of the retinal pigment epithelium (CHRPE), desmoid tumors, and extracolonic cancers (thyroid, liver, bile ducts and central nervous system). A less aggressive variant of FAP, attenuated FAP (AFAP), is characterized by fewer colorectal adenomatous polyps (usually 10 to 100), later age of adenoma appearance and a lower cancer risk. Some lesions (skull and mandible osteomas, dental abnormalities, and fibromas on the scalp, shoulders, arms and back) are indicative of the Gardner variant of FAP. Classic FAP is inherited in an autosomal dominant manner and results from a germline mutation in the adenomatous polyposis (APC) gene. Most patients (~70%) have a family history of colorectal polyps and cancer. In a subset of individuals, a MUTYH mutation causes a recessively inherited polyposis condition, MUTYH-associated polyposis (MAP), which is characterized by a slightly increased risk of developing CRC and polyps/adenomas in both the upper and lower gastrointestinal tract. Diagnosis is based on a suggestive family history, clinical findings, and large bowel endoscopy or full colonoscopy. Whenever possible, the clinical diagnosis should be confirmed by genetic testing. When the APC mutation in the family has been identified, genetic testing of all first-degree relatives should be performed. Presymptomatic and prenatal (amniocentesis and chorionic villous sampling), and even preimplantation genetic testing is possible. Referral to a geneticist or genetic counselor is mandatory. Differential diagnoses include other disorders causing multiple polyps (such as Peutz-Jeghers syndrome, familial juvenile polyps or hyperplastic polyposis, hereditary mixed polyposis syndromes, and Lynch syndrome). Cancer prevention and maintaining a good quality of life are the main goals of management and regular and systematic follow-up and supportive care should be offered to all patients. By the late teens or early twenties, colorectal cancer prophylactic surgery is advocated. The recommended alternatives are total proctocolectomy and ileoanal pouch or ileorectal anastomosis for AFAP. Duodenal cancer and desmoids are the two main causes of mortality after total colectomy, they need to be identified early and treated. Upper endoscopy is necessary for surveillance to reduce the risk of ampullary and duodenal cancer. Patients with progressive tumors and unresectable disease may respond or stabilize with a combination of cytotoxic chemotherapy and surgery (when possible to perform). Adjunctive therapy with celecoxib has been approved by the US Food and Drug Administration and the European Medicines Agency in patients with FAP. Individuals with FAP carry a 100% risk of CRC; however, this risk is reduced significantly when patients enter a screening-treatment program

Follow-up in colorectal cancer patients: a cost-benefit analysis

BACKGROUND: No conclusive evidence exists concerning the effectiveness of follow-up programs after curative surgery for colorectal cancer, and presently cost-benefit analyses have not indicated that follow-up strategies increase survival or quality of life. METHODS: Five hundred five patients who survived curative surgery for stage I-III colorectal adenocarcinoma were closely followed for at least 4 years. RESULTS: One hundred forty-one (28%) patients had recurrence. Of these, 32 underwent one or more surgical procedures for cure, whereas 109 could only benefit from palliation. Eighteen were cured. The mean survival of all recurrent cases was 44.4 months. Of those operated on with curative intent, the mean survival was 69.3 months compared with 37.1 months in those operated on with palliative intent. Of those 18 patients who were cured by reoperative surgery, the average survival was 81.4 months. The overall follow-up cost was $1,914,900 (U.S.) for the 505 patients;$13,580 (U.S.) for each recurrence, $59,841 (U.S.) for each case treated for cure, and$136,779 (U.S.) for those effectively cured. CONCLUSIONS: Careful postoperative monitoring is expensive yet effective when one considers that one-quarter of the detected recurrences were suitable for potentially curative second surgery; however, only 3.6% of the original group were effectively cured. Follow-up programs should be tailored according to the stage and site of the primary to reduce costs

Coliti gravi ad insorgenza acuta. Metodologia diagnostica e trattamento

The aim of this paper is to define diagnostic criteria and treatment guidelines for acute colitis at first attack. This clinical syndrome begins with not-specific signs and symptoms (diarrhea, abdominal pain, fever, dehydration, weight loss and so on). In such cases a diagnosis of colitis was not previously made; the severity of the disease is widely variable and prognosis is not foreseeable before a correct etiologic diagnosis. Relaps of previously diagnosed inflammatory bowel diseases are ruled out. Early etiologic diagnosis is essential to program appropriate medical treatment and to avert the possible evolution to severe acute colitis. The Authors assess the value of several means for diagnosis and decision making (clinical features, stool examination, microbiologic and serologic findings, endoscopy, radiology, histologic findings and clinical course). Closed clinical monitoring in Intensive Care Unit of critically ill patients is recommended. A series of 43 patients operated on for persistently severe or complicated acute colitis since 1975 to 1988 is afterwards presented. Twenty-eight patients suffered from acute colitis at first attack, whereas 15 patients had relapses of chronic colitis. Significant differences between the two groups arose for the following parameters: age, operative mortality, rate of subsequent restoration of the intestinal continuity after urgent colectomy. Analysis of these data suggest a better clinical course for patients with severe acute colitis at first attack in comparison to patients affected from acute severe relapse of chronic colitis, provided the etiologic diagnosis is early and exact