Prevalence and Clinical Picture of Celiac Disease in Italian Down Syndrome Patients: A Multicenter Study

Department of Paediatrics, La Sapienza University, Rome, Italy.
Journal of Pediatric Gastroenterology and Nutrition (Impact Factor: 2.63). 07/2001; 33(2):139-143. DOI: 10.1097/00005176-200108000-00008
Source: PubMed


Background: A multicenter research study of Down syndrome patients was carried out to estimate the prevalence of celiac disease in patients with Down syndrome and to show clinical characteristics and laboratory data of Down syndrome patients.
Methods: The authors studied 1,202 Down syndrome patients. Fifty-five celiac disease patients (group 1) were compared with 55 immunoglobulin A antigliadin-positive antiendomysium antibodies-negative patients (group 2) and with 57 immunoglobulin A antigliadin-negative antiendomysium antibodies-negative patients (group 3).
Results: Celiac disease was diagnosed in 55 of 1,202 Down syndrome patients (4.6%). In group 1, weight and height percentiles were shifted to the left, whereas these parameters were normally distributed in groups 2 and 3. In celiac patients, diarrhea, vomiting, failure to thrive, anorexia, constipation, and abdominal distension were higher than in the other two groups. Low levels of hemoglobinemia, serum iron, and calcium were observed more frequently in group 1. The diagnosis of celiac disease was made after a mean period of 3.8 years from the initiation of symptoms. Sixty-nine percent of patients showed a classic presentation, 11% had atypical symptoms, and 20% had silent celiac disease. Autoimmune disorders were more frequent (30.9%) in group 1 than in the other two groups examined (15%;P < 0.05).
Conclusions: This study reconfirms a high prevalence of celiac disease in Down syndrome. However, the diagnostic delay, the detection of atypical symptoms or silent form in one third of the cases, and the increased incidence of autoimmune disorders suggest the need for the screening of celiac disease in all Down syndrome patients.

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    • "As for other autoimmune diseases, CD occurs more often in female than in male subjects with a gender ratio of about 2:1 [1,13,14]. Furthermore, gluten intolerance is more frequent in at-risk groups, such as first-degree relatives of patients as well as individuals with specific genetic syndromes (Down, Turner, Williams) or autoimmune diseases (mainly type 1 diabetes, thyroiditis and multiple sclerosis) [15-17]. "
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    ABSTRACT: Celiac disease (CD) is a multifactorial disorder with an estimated prevalence in Europe and USA of 1:100 and a female:male ratio of approximately 2:1. The disorder has a multifactorial etiology in which the triggering environmental factor, the gluten, and the main genetic factors, Human Leukocyte Antigen (HLA)-DQA1 and HLA-DQB1 loci, are well known. About 90-95% of CD patients carry DQ2.5 heterodimers, encoded by DQA1*05 and DQB1*02 alleles both in cis or in trans configuration, and DQ8 molecules, encoded by DQB1*03:02 generally in combination with DQA1*03 variant. Less frequently, CD occurs in individuals positive for the DQ2.x heterodimers (DQA1=*05 and DQB1*02) and very rarely in patients negative for these DQ predisposing markers. HLA molecular typing for Celiac disease is, therefore, a genetic test with a negative predictive value. Nevertheless, it is an important tool able to discriminate individuals genetically susceptible to CD, especially in at-risk groups such as first-degree relatives (parents, siblings and offspring) of patients and in presence of autoimmune conditions (type 1 diabetes, thyroiditis, multiple sclerosis) or specific genetic disorders (Down, Turner or Williams syndromes).
    Full-text · Article · Oct 2012 · Journal of Biomedical Science
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    • "In patients HLA-DQ2 and DQ8 the transglutaminase (TG enzyme) modifies gluten peptides and the new complexes trigger inflammatory T-cell in the small intestine [17] [18]. CD occurs in symptomatic individuals with gastrointestinal and non-gastrointestinal symptoms (classic and atypical form) and in some asymptomatic individuals who have conditions that are associated with CD: autoimmune diseases (insulin-dependent diabetes mellitus, thyroiditis) and some chromosomal diseases (Down syndrome, Turner syndrome, Williams syndrome) [19]. Chromosomal anomalies predispose to immunological disturbances. "
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    ABSTRACT: It has been known that females with Turner syndrome (TS) have an increased prevalence of autoantibodies and are at increased risk of developing autoimmune diseases. Immunological disturbances have been described in TS: a slight decrease in immunoglobulin serum levels and in circulating T and B cells percentages. This data is not entirely in concordance with some more recent studies. The effects of the immune derangement, found only by some studies, may account for the association of TS with autoimmune disease. In TS there is an increased risk of celiac disease (CD), though the risk is considerably smaller than that for thyroiditis. Some multicenter studies have been performed (Sweden, Canada, Poland, Italy and Germany) and the reported prevalence of CD is 4.2– 6.4% in TS versus 0.35–0.5% in the general population (GP). Apparently the risk is very low before school age. TS subjects with CD do not show particular dysmorphic signs. Only half of the CD subjects had a typical clinical picture and this finding speaks in favour of screening rather than just investigating TS patients with symptoms. In 44% of patients with CD and TS various autoimmune disorders were found vs. the 4.5–14% of CD subjects of the GP. In the subjects whose CD diagnosis was made before 15 years of age the autoimmune pathologies were found in 32% and in 55% in the subjects diagnosed afterward. Conclusions – As a high risk population TS girls and women should be screened for CD – if positive have diagnosis confirmed – according to North American Society for Pediatric Gastroenterology, Hepatology and Nutrition (NASPGHAN) guidelines, which represent the most up-to-date guidelines. Measurement of tissue transglutami-nase IgA antibodies should begin at age 6 and repeated every 2–5 years. In TS subjects, positive to antibody determination, intestinal endoscopic biopsy was recommended, because in a third of CD subjects vascular alterations in the intestinal mucosa were detected. The screening for CD could be proposed as soon as possible after the diagnosis of TS. CD screening should be performed before the beginning of GH-therapy: to avoid a bad response to treatment, to improve growth and optimize bone mineral density. It has been known that females with TS have an increased prevalence of autoantibodies and are at increased risk of developing autoimmune diseases such as: Hashimoto thy-roiditis, pernicious anemia, Addison disease, celiac disease, inflammatory bowel disease, diabetes, autoimmune hepatitis, autoimmune colitis, thrombocytopenia, and juvenile rheumatoid arthritis [1–9].
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