Increased Prevalence of Celiac Disease in Girls with Turner Syndrome Detected Using Antibodies to Endomysium and Tissue Transglutaminase

Gillett, Peter M.; Gillett, Helen; Israel, David M.; Metzger, Daniel L.; Stewart, Laura; Chanoine, Jean‐Pierre; Freeman, Hugh James

doi:10.1155/2000/172914

Cited by 31 publications

(21 citation statements)

References 15 publications

(10 reference statements)

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“…The prevalence of CD observed in this group of females with TS (3.6%) was lower than the prevalence of 6.4% reported by Bonamico et al (4) but similar to the prevalence found in other studies, varying from 2.2 to 5.0% (8,12,13) . Some of those studies have shown that part of the diagnosed patients were asymptomatic or presented atypical forms of CD.…”

Section: Discussionsupporting

confidence: 85%

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Screening for celiac disease among patients with Turner syndrome in Brasília, DF, midwest region of Brazil

Dias

Castro

Gandolfi

et al. 2010

Arq. Gastroenterol.

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-Context -Several studies have demonstrated a higher prevalence of celiac disease (CD) among females with Turner syndrome when compared to the general population. Nevertheless, there is no record in literature concerning this investigation among Brazilian patients. Objective -To assess the prevalence of CD among a group of Brazilian patients with Turner syndrome. Methods -Fifty-six females with Turner syndrome and on gluten-containing diet were screened for CD utilizing immunoglobulin A antiendomysium (IgA-EMA) and immunoglobulin A anti-tissue transglutaminase (IgA-tTG) antibody assays. Additionally, they were genotyped for CD human leukocyte antigen (CD-HLA) predisposing alleles. Patients showing positivity in serological testing were offered to perform small intestine biopsy for histological confirmation. Results -Mean age at diagnosis of Turner syndrome was 5.5 ± 4.4 years; mean age at screening for CD was 17.0 ± 9.3 years (from 10 months of age to 52 years). Two girls were positive for IgA-EMA and IgA-tTG, presented predisposing HLA-DQ2 alleles and both had the diagnosis of CD confirmed by jejunal biopsy. Conclusion -The 3.6% prevalence of biopsy-proven CD among this group of females with Turner syndrome is 10 times higher than the one among females from the general population of the same geographical area. This result provides additional support to an association between these two disorders and restates that girls and women with Turner syndrome represent a high risk population for developing CD.

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Section: Discussionsupporting

confidence: 85%

“…Other less frequently reported autoimmune disorders include inflammatory bowel disease (9,17) and idiopathic juvenile arthritis (33,34) . Since the last decade, an increasing number of studies have also demonstrated a higher prevalence of celiac disease (CD) among females with TS when compared with the general population (4,10,12,13,21) .…”

Section: Introductionmentioning

confidence: 99%

Screening for celiac disease among patients with Turner syndrome in Brasília, DF, midwest region of Brazil

Dias

Castro

Gandolfi

et al. 2010

Arq. Gastroenterol.

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“…Acetylcholine receptor antibodies were measured using a modified radioimmunoprecipitation assay [6] . Approval to test samples for endomysial antibodies and IgA tissue transglutaminase antibody concentrations was obtained through the Clinical Research Ethics Board at UBC as previously noted [7,8] .…”

Section: Special Serological Studiesmentioning

confidence: 99%

Adult celiac disease with acetylcholine receptor antibody positive myasthenia gravis

Freeman¹,

Gillett²,

Gillett³

et al. 2009

WJG

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“…The diagnosis of celiac disease should be excluded in patients with irritable bowel syndrome (9). Conditions with an increased risk of developing celiac disease include Type I diabetes (3,(10)(11)(12)(13)(14), autoimmune thyroiditis (3,15), Down syndrome (3,(16)(17), Turner syndrome (3,18), Williams syndrome (19), selective IgA deficiency (3,20,21), and being a first or second degree relative of affected individuals (22,23) (Table 2). Families with two or more affected siblings are at the highest risk; up to 26% for siblings and 13% for parents (22).…”

Section: Clinical Manifestations Andmentioning

confidence: 99%

Practical considerations for the identification and follow-up of children with celiac disease

Dirks

2004

Paediatrics &Amp; Child Health

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Celiac disease is an immune-mediated enteropathy affecting 0.5% to 1% of children and is induced by dietary gluten in susceptible individuals carrying the human leukocyte antigen DQ2 or DQ8 heterodimer. If serological screening is positive or if a patient displays suggestive symptoms, an endoscopic biopsy of the distal duodenum is required to confirm the diagnosis. Symptoms of celiac disease are often mild or absent. Overt malabsorption occurs in only 2% to 10% of children. Individuals with a higher risk of developing celiac disease, including first-degree relatives of affected patients and children with type I diabetes, Turner syndrome, Williams syndrome or Down syndrome, should be offered screening for celiac disease along with a discussion of the implications. If serological testing is negative, a high index of suspicion should remain if malabsorption, iron deficiency or osteopenia is present. Also, immunoglobulin A deficiency should be excluded. At-risk individuals should undergo serial serological screening. Lifelong adherence to a gluten-free diet is the only treatment. If left untreated, symptomatic children with celiac disease carry an increased risk of developing osteoporosis and have a greater lifetime risk of cancer. The long-term outcome of undiagnosed or untreated asymptomatic individuals is less clear.Key Words: Celiac disease; Gluten-free diet; Gluten-sensitive enteropathy; IgA deficiency; Tissue transglutaminase; Type I diabetes Des considérations pratiques pour dépister et suivre les enfants atteints d'une maladie coeliaqueLa maladie coeliaque est une entéropathie d'origine immunologique qui touche de 0,5 % à 1,0 % des enfants et qui est induite par le gluten diététique chez des individus susceptibles porteurs de l'antigène HLA DQ2 ou DQ8 hétérodimère. Si le dépistage sérologique est positif ou si un patient présente des symptômes évocateurs, une biopsie endoscopique du duodénum distal s'impose pour confirmer le diagnostic. Les symptômes de maladie coeliaque sont souvent légers ou inexistants. Une malabsorption patente ne s'observe que chez 2 % à 10 % des enfants. Les individus plus vulnérables à la maladie coeliaque, y compris les parents au premier degré des patients atteints et les enfants souffrant

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Increased Prevalence of Celiac Disease in Girls with Turner Syndrome Detected Using Antibodies to Endomysium and Tissue Transglutaminase

Abstract: One girl with TS was identified with CD from 45 screened, giving an overall biopsy-confirmed prevalence of 2.2%. This study confirms previous observations placing girls with TS at higher risk for CD and suggests a similar high prevalence in British Columbia.

Cited by 31 publications

References 15 publications

Screening for celiac disease among patients with Turner syndrome in Brasília, DF, midwest region of Brazil

Screening for celiac disease among patients with Turner syndrome in Brasília, DF, midwest region of Brazil

Adult celiac disease with acetylcholine receptor antibody positive myasthenia gravis

Practical considerations for the identification and follow-up of children with celiac disease

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