Dispelling misconceptions in the management of familial adenomatous polyposis

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Excerpt

Familial adenomatous polyposis (FAP) is an autosomal dominantly inherited disease that presents with numerous colonic adenomatous polyps.1 It arises due to a germline mutation in the tumour suppressor gene APC. Classical FAP presents with hundreds and often thousands of adenomas that are impossible to control endoscopically. Without colectomy, colorectal carcinoma (CRC) is inevitable, at a mean age of 39 years.2 Prophylactic screening and surgery in affected individuals aims to minimize this risk. While prophylactic proctocolectomy is considered by some to be routine for patients with FAP, this approach has been challenged by a desire to preserve the rectum in the interests of quality of life and reducing operative risk.
Patients with FAP may also suffer from desmoid disease which can pose serious challenges for the treating clinician. The risk or presence of desmoid disease can influence surgical strategy. It has been suggested by some that the development of desmoid disease in patients with an ileorectal anastomosis may prevent future proctectomy and therefore a proctocolectomy should be offered originally, instead of the ileorectal anastomosis.3
Because FAP is such a rare disease, the experience of individual surgeons may be skewed by unusual presentations and outcomes. The course of patients with the disease may be unpredictable and management decisions may be made on the basis of anecdote, ‘myth’, and fear of possible (but unlikely) adverse consequences, rather than evidence. Choice of surgery and the role of desmoid disease are just two examples. The aim of this review is to settle some of the misconceptions in the diagnosis and management of FAP.
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