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LIFETIME RISK OF SMALL BOWEL CANCER IN FAMILIES WITH LYNCH SYNDROME
Lynch syndrome (hereditary non-polyposis colorectal cancer; HNPCC) is caused by a germ-line mutation in one of the DNA mismatch repair (MMR) genes. Mutations of the MLH1 and MSH2 genes account for 70–90% of cases. Such patients develop colorectal cancer at an early age and have an excess of extra colonic malignancies, including small bowel cancer with a relative risk >100. Knowing whether to screen such families for this rare condition depends on an accurate knowledge of the absolute risk. In this study, 1496 family members with a MMR mutation from 189 families on the Dutch HNPCC registry were examined. The cumulative risk of developing small bowel cancer in MMR mutation carriers is shown in the figure, with a lifetime risk of 4.2%. The specific MMR mutation did not alter the risk nor did gender. The authors conclude that the annual incidence is too small to justify invasive screening techniques such as double balloon enteroscopy but that the newer technique of videocapsule endoscopy might be more acceptable and requires further evaluation.
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LOWER PAIN THRESHOLDS IN IBS IN SPITE OF NORMAL SENSORY DISCRIMINATION
Abdominal pain and discomfort in patients with irritable bowel syndrome (IBS) has often been attributed to visceral hypersensitivity, as shown by a reduced threshold for pain during rectal distension. A study by Dorn et al used sensory discrimination testing to examine whether this reflects true hypersensitivity or a tendency to use lower criteria to report stimuli as painful. The authors confirmed reduced pain thresholds by the conventional ascending methods …
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