DQ2, DQ7 and DQ8 Distribution and Clinical Manifestations in Celiac Cases and Their First-Degree Relatives

Araya, Magdalena; Oyarzún, Amaya; Lucero, Yalda; Espinosa, Nelly; Pérez-Bravo, Francisco

doi:10.3390/nu7064955

Cited by 24 publications

(20 citation statements)

References 36 publications

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“…Agreeing with previous local studies [10], a high percentage of patients (89%) exhibited intense histological damage in the small intestinal mucosa at diagnosis. Previous studies in Chile show that the frequency and distribution of Human Leucocyte Antigen (HLA) -DQ2 and -DQ8 differ from those reported in Europe [26], HLA-DQB1*0301 -HLA-DQA1*302 being more frequent, but we have no data suggesting that the clinical presentation of the disease may be influenced by these genetic differences.…”

Section: Clinical Characteristicscontrasting

confidence: 75%

Changes in Age at Diagnosis and Nutritional Course of Celiac Disease in the Last Two Decades

et al. 2020

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The frequency of celiac disease (CD) has increased along time, with relevant changes reported in geographical variations, clinical presentation and nutritional repercussions. In recent years, some celiac patients are presenting overweight/obesity, but it is unclear how frequent this is and to what extent undernutrition remains a concern. This is relevant because CD tends to be overlooked in overweight patients. With this in mind, we assessed age at diagnosis, clinical characteristics and nutritional status of 155 celiac patients diagnosed between 1994–2017 in four pediatric hospitals in Santiago, Chile. Since 2003, the number of patients diagnosed has increased (p < 0.0033), coinciding with antitransglutaminase and antiendomysial antibodies becoming available to public health systems. In 2000, 4.5% of patients were asymptomatic at diagnosis, suggesting that active search is not routinely applied. Gastrointestinal symptoms plus failure to thrive were significantly more frequent under 2 years (p = 0.0001). Nutritional status has improved at diagnosis and during follow up, but undernutrition remains more frequent in children <2 and <5 years (p < 0.002 and p < 0.0036, respectively). Overweight at diagnosis was reported in 2002 and obesity in 2010. After initiating treatment, since 2010, patients changing from undernourishment to overweight has sometimes been observed after only 6 months on a gluten-free diet.

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Section: Clinical Characteristicscontrasting

confidence: 75%

Changes in Age at Diagnosis and Nutritional Course of Celiac Disease in the Last Two Decades

et al. 2020

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“…Due to the increase in the diagnosis frequency, in several countries, national programs have been incorporated in order to improve their management, for which national information is essential. In our country, the evaluations currently available show that the existing data are scarce and almost entirely obtained in the Metropolitan Region 8,11 . The Concepción District belongs to the Biobío Region and is made up of 12 communes (Concepción, Coronel, Chiguayante, Florida, Hualqui, Lota, Penco, San Pedro de la Paz, Santa Juana, Talcahuano, Tomé).…”

Section: Introductionmentioning

confidence: 95%

“…Typical examples of this situation are type 1 diabetes mellitus (T1DM), Hashimoto's thyroiditis, Down Syndrome (DS), Turner syndrome, among others 6 . First-degree relatives of patients already diagnosed with CD are also included in the active search since frequencies up to 20% higher than in the general population have been described in them 7,8 .…”

Section: Introductionmentioning

confidence: 99%

Caracterización de la enfermedad celiaca en niños atendidos en hospitales públicos chilenos

Méndez

Carrasco

Mora

et al. 2018

Rev. chil. pediatr.

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Caracterización de la enfermedad celiaca en niños atendidos en hospitales públicos chilenosAbstract Introduction: The worldwide prevalence of celiac disease (CD) is ~1% of the population. In Chile, the National Health Survey 2009-2010 showed a serological prevalence in individuals older than 15 years of 0.76% (IgA-tTG2), which corresponded in Concepción to 0.6%. Objective: Determine clinical characteristics, search, diagnosis, treatment and follow-up of CD in the two public hospitals in Concepción that have a Gastroenterology Department. Patients and Method: Descriptive study. Data were collected from electronic medical records (CIE10 code) and medical records of patients younger than 18 years of age, assessed for CD during 2010 -2016 from two public hospitals in the city of Concepción, Chile. Cases whose diagnostic protocol met the ESPGHAN 2012 criteria (confirmation with intestinal biopsy), 207 out of 216 identified patients met the inclusion criteria. The nutritional status was classified according to age group (in children under five years old by WHO 2006 and in children between five and 18 years old by WHO 2007). The Z-score (Z) was calculated using the WHO Anthro software (in children under five years old) and WHO Anthro Plus software (in those between five and 18 years old). Antiendomysial antibodies were assessed by immunofluorescence test in cuts of the esophagus of mono, IgA and IgG anti-transglutaminase antibodies via ELISA, as well as serum IgA. Results: CD was confirmed by duodenal biopsies in 33.8% of the patients. IgA-tTG was identified in 70% and IgG-tTG in 52.9%, although only two patients had IgA deficiency. The main reasons for consultation were gastrointestinal (80%) and/or referral by an endocrinologist (45.7%). The main clinical presentation was gastrointestinal, with diarrhea (71.4%). 17.1% of the patients had Down syndrome (DS), 11.4% short stature, and 5.7% had type 1 diabetes mellitus. At diagnosis, the obesity:malnutrition ratio (Z-score BMI) was 2:1 and 6.8% of the patients were obese. One year after diagnosis, in 26 patients without DS, the frequency of eutrophic patients decreased from 65.4% to 42.3%, increasing overweight from 23.1% to 34.6% and obesity from 0 to 7.7%. Conclusions: In Concepción, endocrinologists conduct a significant and successful active search of CD, being responsible for 47.3% of the diagnoses. The high proportion of overweight/obese patients is consistent with the phenomenon currently described in Chile and other countries.

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“…Estudios han señalado que la gran mayoría de los pacientes con EC expresan HLA-DQ2 o HLA-DQ8 13 , sin embargo, publicaciones de Sudamérica, incluyendo nuestro país, plantean que estas asociaciones serían menos prevalentes 14 . El 30% de la población general expresa HLA-DQ2 10 , de manera que este no es el único factor genético que explica la predisposición a desarrollar EC.…”

Section: Patogénesisunclassified

Enfermedad celíaca.Revisión

Quera

2016

Rev. méd. Chile

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The prevalence of Celiac disease in the general population is approximately 1% and remains undiagnosed in a significant proportion of individuals. Its clinical presentation includes the classical malabsorption syndrome, unspecific and extra-intestinal manifestations, and silent celiac disease. The serologic diagnosis has an elevated sensitivity and specificity and, at least in adult population, it must be confirmed by biopsy in every case. Diagnosis in subjects already on gluten free diet includes HLA typing and gluten challenge with posterior serologic and histologic evaluation. The core of the treatment is the gluten free diet, which must be supervised by an expert nutritionist. Monitoring must be performed with serology beginning at 3-6 months, and with histology two years after the diagnosis, unless the clinical response is poor. Poor disease control is associated with complications such as lymphoma and small bowel adenocarcinoma. In the future, it is likely that new pharmacologic therapies will be available for the management of celiac disease.

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DQ2, DQ7 and DQ8 Distribution and Clinical Manifestations in Celiac Cases and Their First-Degree Relatives

Cited by 24 publications

References 36 publications

Changes in Age at Diagnosis and Nutritional Course of Celiac Disease in the Last Two Decades

Changes in Age at Diagnosis and Nutritional Course of Celiac Disease in the Last Two Decades

Caracterización de la enfermedad celiaca en niños atendidos en hospitales públicos chilenos

Enfermedad celíaca.Revisión

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