Observation
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World J Gastroenterol. Apr 21, 2010; 16(15): 1828-1831
Published online Apr 21, 2010. doi: 10.3748/WJG.v16.i15.1828
Risk factors in familial forms of celiac disease
Hugh James Freeman
Hugh James Freeman, Department of Medicine, University of British Columbia Hospital, Vancouver, BC V6T1W5, Canada
Author contributions: Freeman HJ contributed all to this paper.
Correspondence to: Dr. Hugh James Freeman, MD, CM, FRCPC, FACP, Department of Medicine, University of British Columbia Hospital, 2211 Wesbrook Mall, Vancouver, BC V6T1W5, Canada. hugfree@shaw.ca
Telephone: +1-604-8227216 Fax: +1-604-8227236
Received: December 17, 2009
Revised: February 12, 2010
Accepted: February 19, 2010
Published online: April 21, 2010
Abstract

Celiac disease has been reported in up to 2% of some European populations. A similar risk has been identified in the America and Australia where immigration of Europeans has occurred. Moreover, an increasing number of celiac disease patients are being identified in many Asian countries, including China and India. Finally, celiac disease has also been detected in Asian immigrants and their descendants to other countries, such as Canada. Within these so-called “general” celiac populations, however, there are specific high risk groups that have an even higher prevalence of celiac disease. Indeed, the single most important risk factor for celiac disease is having a first-degree relative with already-defined celiac disease, particularly a sibling. A rate up to 20% or more has been noted. Risk is even greater if a specific family has 2 siblings affected, particularly if a male carries the human leukocyte antigen-DQ2. Both structural changes in the small bowel architecture occur along with functional changes in permeability, even in asymptomatic first-degree relatives. Even if celiac disease is not evident, the risk of other autoimmune disorders seems significantly increased in first-degree relatives as well as intestinal lymphoma. Identification of celiac disease is important since recent long-term studies have shown that the mortality of celiac disease is increased, if it is unrecognized and untreated.

Keywords: Celiac disease, Screening, Risk factors, Familial disease, Human leukocyte antigen-DQ2, Genome-wide association studies, Genome-wide linkage studies