Coeliac disease

First Department of Medicine, Centro per lo Studio e la Cura della Malattia Celiaca, Fondazione IRCCS Policlinico San Matteo, University of Pavia, Pavia, Italy.
The Lancet (Impact Factor: 45.22). 05/2009; 373(9673):1480-93. DOI: 10.1016/S0140-6736(09)60254-3
Source: PubMed


Coeliac disease is a chronic inflammatory disorder of the small bowel induced in genetically susceptible people by the irritant gluten and possibly other environmental cofactors. The disorder is characterised by a diverse clinical heterogeneity that ranges from asymptomatic to severely symptomatic, and it manifests with frank malabsorption, an increased morbidity attributable to the frequent association with autoimmune disorders and increased mortality resulting from the emergence of T-cell clonal proliferations that predispose the patient to enteropathy-type T-cell lymphoma. Our understanding of the molecular basis for this disorder has improved and enabled the identification of targets for new therapies, although a strict gluten-free diet remains the mainstay of safe and effective treatment. In this Seminar we critically reassess the clinical and diagnostic aspects of this disease and new perspectives in its pathogenesis and treatment.

15 Reads
  • Source
    • "or rigorous followup until unequivocal mucosal flattening is recorded [1]. Patients with ascertained coeliac disease show positive serological patterns with damage to the intestinal mucosal architecture. "
    [Show abstract] [Hide abstract]
    ABSTRACT: Patients involved on coeliac disease (CD) have atypical symptoms and often remain undiagnosed. Specific oral manifestations are effective risk indicators of CD and for this reason an early diagnosis with a consequent better prognosis can be performed by the dentist. There are not researches analysing the frequency of these oral manifestations in potential coeliac patients. The aim of this study is to investigate the oral hard and soft tissue lesions in potential and ascertained coeliac children in comparison with healthy controls. 50 ascertained children, 21 potential coeliac patients, and 54 controls were recruited and the oral examination was performed. The overall oral lesions were more frequently present in CD patients than in controls. The prevalence of oral soft tissue lesions was 62% in ascertained coeliac, 76.2% in potential coeliac patients, and 12.96% in controls (P < 0.05). Clinical dental delayed eruption was observed in 38% of the ascertained coeliac and 42.5% of the potential coeliac versus 11.11% of the controls (P < 0.05). The prevalence of specific enamel defects (SED) was 48% in ascertained coeliac and 19% in potential coeliac versus 0% in controls (P < 0.05; OR = 3.923). The SED seem to be genetically related to the histological damage and villous atrophy.
    Gastroenterology Research and Practice 08/2014; 2014:934159. DOI:10.1155/2014/934159 · 1.75 Impact Factor
  • Source
    • "Blood samples from all children were analyzed for anti-human tissue transglutaminase (tTG) and, if borderline values were obtained, also for endomysial antibodies. Children with values above a predefined cut-off were referred to the closest pediatric clinic for a small-intestinal biopsy [20,21]. Criteria for diagnosis were Marsh 3a-c enteropathy or a combination of Marsh 1 and Marsh 2 enteropathy, HLA-DQ2/DQ8 haplotype, and symptoms and/or signs compatible with celiac disease [21]. "
    [Show abstract] [Hide abstract]
    ABSTRACT: Background Untreated celiac disease is traditionally believed to be associated with malabsorption and underweight. However, studies describing body mass index (BMI) in individuals at the time of diagnosis have shown contradictory results. We investigated the differences in weight, height, and BMI in 12- year-old children with screening-detected celiac disease compared to their healthy peers. Methods In a population-based screening study of 12,632 12-year-old children, blood samples were analyzed for markers of celiac disease. Children with elevated markers were referred for a small bowel biopsy. Weight and height were measured in 239 out of 242 children with screening-detected celiac disease (57.3% girls) and in 12,227 children without celiac disease (48.5% girls). BMI was categorized according to the International Obesity Task Force. Age- and sex-specific cut-off points for underweight, normal weight, and overweight were used. Results Children with celiac disease weighed less and were shorter than their peers (median weight 45.2 kg, interquartile range (IQR) 40.2–52.2 kg vs. 47.0 kg, IQR 41.1–54.4 kg, respectively, p = 0.01; median height 156.5 cm, IQR 151.0–162.0 cm vs. 157.5 cm, IQR 152.0–163.0 cm, respectively, p = 0.04). In comparing those with celiac disease to their healthy peers, 4.2% vs. 5.2% were underweight, 82.0% vs. 72.8% were normal weight, and 13.8% vs. 21.9% were overweight, respectively. There was no association between being underweight and the risk of having undiagnosed celiac disease (Odds ratio (OR) 1.3, 95% CI 0.7–2.4), but the risk was significantly lower among overweight children (OR 0.56, 95% CI 0.4–0.8). Median BMI was slightly lower among the children with screening-detected celiac disease compared to their healthy peers (18.6 kg/m2, IQR 17.1–19.8 kg/m2 vs. 18.8 kg/m2, IQR 17.2–21.1 kg/m2, respectively, p = 0.05), but most of the celiac disease cases had a normal BMI. Conclusions At a population level, children with celiac disease weigh less, are shorter, and have a lower BMI compared to their peers without celiac disease, and this emphasizes the importance of early recognition and treatment of the condition. However, at an individual level, growth parameters are not reliable in establishing the diagnosis.
    BMC Pediatrics 06/2014; 14(1):165. DOI:10.1186/1471-2431-14-165 · 1.93 Impact Factor
  • Source
    • "Celiac disease (CD) is a chronic autoimmune disorder in genetically predisposed individuals in which damage to the small intestine is caused by eating foods containing gluten (found in wheat, rye, and barley) [1]. Serologic markers indicative of CD are highly predictive [2,3] and diagnosis is based on a biopsy of the small intestine revealing enteropathy [4,5]. The treatment is a lifelong gluten-free diet (GFD) and in most patients who adhere to the diet the enteropathy and symptoms resolve [4,6]. "
    [Show abstract] [Hide abstract]
    ABSTRACT: BackgroundMass screening could identify those with unrecognized celiac disease (CD), but the experience of being detected through screening and living with screening-detected CD should be explored before considering this as acceptable intervention. For this study we invited screening-detected adolescents to describe their experience living with screening-detected CD five years after diagnosis with the aim to explore how their perceptions, practices, and beliefs evolved.MethodsAdolescents who were diagnosed through a population-based CD screening were invited to write narratives after being diagnosed. Of 153 adolescents who were eventually diagnosed through the screening, 91 wrote narratives one year after diagnosis and 72 five years after diagnosis. A qualitative content analysis resulted in a theme and categories that describe the experience living with screening-detected CD five years after diagnosis.ResultsThe overall theme – Internalizing the threat of risk – illustrates that being detected through screening and the internalized threat of future health complications have impacted how these adolescents felt about the diagnosis, coped with the gluten-free diet (GFD), and thought about CD screening. This theme is supported by four categories: maintaining an imposed disease identity describes how they continued to define their diagnosis in relation to the screening. They also expressed moving from forced food changes to adapted diet routines by describing habits, routines, coping strategies, and the financial burden of the GFD. They had enduring beliefs of being spared negative consequences, however, even after five years, some doubted they had CD and worried that being detected and eating a GFD might not be beneficial, i.e. continuing to fear it is “all in vain”.ConclusionsThere was maintenance and evolution in the perceptions, practices, and beliefs of the adolescents after five years. Some have adjusted to the disease and adapted new habits and coping strategies to deal with the GFD, while others still doubt they have CD or that being detected was beneficial. The transition to adapting to the disease and GFD is ongoing, illustrating the importance of providing ongoing support for those with screening-detected CD as they adjust to this chronic disease and the GFD.
    Health and Quality of Life Outcomes 06/2014; 12(1):91. DOI:10.1186/1477-7525-12-91 · 2.12 Impact Factor
Show more