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20 - Inflammatory bowel diseases

Published online by Cambridge University Press:  17 August 2009

By
Jean-Pierre Hugot
Edited by
Alan Wright  and
Nicholas Hastie
Alan Wright
Affiliation:
MRC Human Genetics Unit, Edinburgh
Nicholas Hastie
Affiliation:
MRC Human Genetics Unit, Edinburgh
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Summary

Introduction

Inflammatory bowel diseases (IBD) consist of two major disorders: Crohn's disease (CD, OMIM 266600) and ulcerative colitis (UC, OMIM 191390). They are both characterized by a chronic or relapsing inflammation of the digestive tract (for review see Shanahan, 2002; Podolsky, 2002). In UC, the inflammation is limited to the colon with continuous mucosal inflammation already affecting the rectum. On the other hand, CD may affect all the digestive tract from the mouth to the anus with discontinuous lesions. The inflammation is often transmural with potential complications including fistulas, abscesses and strictures. At late stages, granulomas with giant and epithelioid cells are encountered in biopsies or specimens in about half of CD cases.

UC and CD are usually diagnosed in patients presenting with isolated or associated symptoms such as: diarrhea, rectal bleeding, abdominal pain, inflammatory syndromes and malabsorption. Both disorders can be complicated by under-nutrition (and failure to grow in children), osteopenia, extra-intestinal inflammation and cancer. IBD treatment is often complex and requires a combination of anti-inflammatory drugs including 5-aminosalicylates and steroids, immunosuppressant agents and biological therapies. Surgery is often mandatory and iatrogenic complications are frequent.

IBD are lifelong disorders occurring in the young adult with a peak of incidence in the third decade (for review see Mayberry and Rhodes, 1984). CD is more frequent in females (M/F sex ratio = 0.8) while UC is more frequent in males (M/F sex ratio: 1.2).

Type
Chapter
Information
Genes and Common Diseases
Genetics in Modern Medicine
 , pp. 302 - 315
Publisher: Cambridge University Press
Print publication year: 2007

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