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Therapeutic Advances in Gastroenterology


Screening for celiac disease in average-risk and high-risk populations
Saurabh Aggarwal, Benjamin Lebwohl and Peter H. R. Green

Ther Adv Gastroenterol (2012) 5(1) 37–47 DOI: 10.1177/ 1756283X11417038 Ó The Author(s), 2011. Reprints and permissions: journalsPermissions.nav

Abstract: The prevalence of celiacdisease is rising. As a result there is increasing interest in the associated mortality and morbidity of the disease. Screening of asymptomatic individuals in the general population is not currently recommended; instead, a strategy of case finding is the preferred approach, taking into account the myriad modes of presentation of celiac disease. Although a gluten-free diet is the treatment of choice insymptomatic patients with celiac disease, there is no consensus on whether institution of a gluten-free diet will improve the quality of life in asymptomatic screen-detected celiac disease patients. A review of the studies that have been performed on this subject is presented. Certain patient groups such as those with autoimmune diseases may be offered screening in the context of an informeddiscussion regarding the potential benefits, with the caveat that the data on this issue are sparse. Active case finding seems to be the most prudent option in most clinical situations. Keywords: Celiac disease, mass screening, quality of life

Introduction Celiac disease is common, with a prevalence of nearly 1% in Western populations, including the United States [Rubio-Tapia et al. 2009; Bingleyet al. 2004; Fasano et al. 2003; Maki et al. 2003]. The prevalence has risen significantly in the past 50 years with one study from the United States finding a fourfold increase in the prevalence, with another study from Finland reporting a twofold increase [Rubio-Tapia et al. 2009; Lohi et al. 2007]. The increased risks of malignancy and mortality are reduced in the years subsequent to diagnosis,suggesting that adherence to a gluten-free diet may nullify or reduce this increased risk. Most of the risk for malignancy occurs before the diagnosis of celiac disease although the risk of non-Hodgkin’s lymphoma seems to persist despite the gluten-free diet [Green et al. 2003]. There is a reported increased mortality in patients with celiac disease, mainly due to cardiovascular disease andmalignancy [Ludvigsson et al. 2009]. Patients on a glutenfree diet have shown clinical improvement and exposure to gluten may be a factor contributing to the development of a secondary form of refractory celiac disease [Cellier et al. 2000]. However, the gluten-free diet can pose considerable psychological and social burden on the patient, given its difficulty and expense [Whitaker et al.

2009; Leeet al. 2007; Sverker et al. 2005; Hallert et al. 2003]. The institution of the gluten-free diet is clearly indicated in symptomatic patients who present with classical symptoms such as diarrhea, or ‘atypical’ symptoms such as anemia or osteoporosis. The gluten-free diet has been proven to be effective in a majority of patients with celiac disease with regards to controlling both symptoms andnormalization of lab abnormalities [Green and Cellier, 2007]. However, it is less clear that asymptomatic individuals without laboratory abnormalities would benefit from diagnosis and treatment [Ukkola et al. 2011; Tontini et al. 2010; Nachman et al. 2009; van Koppen et al. 2009; Whitaker et al. 2009; Viljamaa et al. 2005; Johnston et al. 2004; Mustalahti et al. 2002]. In this article, we review theliterature and highlight recent studies that have addressed the issue of how screening asymptomatic patients and prescribing a gluten-free diet affects quality of life. Mortality in celiac disease Patients with undiagnosed celiac disease have been shown to have a higher mortality rate than those with negative serologies for celiac disease [Rubio-Tapia et al. 2009; Metzger et al. 2006]. Patients...
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