Article

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: 2.87). 07/2001; 33(2):139-143. DOI: 10.1097/00005176-200108000-00008
Source: PubMed

ABSTRACT 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.

0 Followers
 · 
95 Views
  • Source
    [Show abstract] [Hide abstract]
    ABSTRACT: The prevalence of dyspepsia is up to 40% in popula-tion-based study. Functional dyspepsia is an exclusion diagnosis and it is classified as a chronic abdominal pain-related functional disorder, characterized by the presence of persistent or recurrent pain or discomfort centered in the upper abdomen, neither relief by def-ecation, nor association with the onset of a change in stool frequency or form. Celiac disease (CD) is a common autoimmune enteropathy, with a prevalence around 1% in the general population. Its diagnosis includes a serological screening and an upper gastroin-testinal endoscopy with multiple biopsies. Gluten-free diet is the only effective treatment. CD diagnosis is often delayed in asymptomatic patients or in individu-als with less clinical gastrointestinal symptoms. Several studies performed coeliac disease screening in patients with symptoms suggestive of dyspepsia, showing a biopsy-proved prevalence that ranged from 0.5% to 2%. The typical endoscopic markers of villous atrophy are not sufficiently sensitive, so some endoscopic tech-niques, such as "water immersion" and confocal en-domicroscopy were proposed to improve the diagnostic sensitivity and target biopsies. A recent meta-analysis estimated that the prevalence of CD was higher in patients with dyspepsia, but not in a statistically sig-nificant way. However this assumption should be con-firmed further larger studies. Core tip: Dyspepsia is classified as a chronic abdomi-nal pain-related functional disorder that affects almost 40% of the population. It can be also a manifestation of celiac disease, an immuno-mediated enteropathy, caused by the ingestion of gluten in genetically predis-posed patients. The prevalence of celiac disease among dyspeptic patients has been investigated, with results ranging from 0.5% to 2%. Celiac disease diagnosis requires histological evaluation of villous atrophy on duodenal biopsies specimens. Screening for celiac dis-ease in dyspeptic patients and routinely performing of biopsies during upper gastrointestinal endoscopy, may be useful as part of the diagnostic flow-chart of these patients.-tone S. Dyspepsia and celiac disease: Prevalence, diagnostic tools and therapy. World J Methodol 2014; 4(3): 189-196 Available from:
  • Source
    [Show abstract] [Hide abstract]
    ABSTRACT: BACKGROUND: Celiac disease is a common disorder (up to 0.7%); however, it is uncommonly diagnosed in the United States. OBJECTIVE: We sought to determine physician awareness of celiac disease. DESIGN: Surveys completed by 2,440 (47%) of 5,191 patients in a support group were analyzed for frequency of diagnosis by physician specialties. Questionnaires were then sent to primary care physicians (PCPs) (n=132) in a southern California county to assess knowledge of celiac disease. RESULTS: In patient surveys, only 11% were diagnosed by PCPs (internists and family physicians) versus 65% by gastroenterologists. Physician surveys (70% response) showed that only 35% of PCPs had ever diagnosed celiac disease. Almost all physicians (95%) knew of wheat intolerance, but few (32%) knew that onset of symptoms in adulthood is common. Physicians were well aware (90%) of diarrhea as a symptom, but fewer knew of common symptoms of irritable bowel syndrome (71%), chronic abdominal pain (67%), fatigue (54%), depression and irritability (24%) or of associations with diabetes (13%), anemia (45%) or osteoporosis (45%), or of diagnosis by endomysial antibody tests (44%). CONCLUSIONS: Lack of physician awareness of adult onset of symptoms, associated disorders, and use of serology testing may contribute to the underdiagnosis of celiac disease.
    Journal of General Internal Medicine 07/2005; 20(7):644-646. DOI:10.1007/s11606-005-0111-7 · 3.42 Impact Factor
  • Source
    [Show abstract] [Hide abstract]
    ABSTRACT: During the past 20 years the diagnosis of coeliac disease has improved significantly. However, at the same time the true prevalence of the condition has doubled, involving more than 2% of the population in some countries. Due to mild or atypical symptoms, the diagnosis remains a challenge for the health care system. Highly sensitive and specific serum endomysial and transglutaminase-2 antibody tests are helpful in identifying patients for diagnostic endoscopy and small-bowel biopsy. The diagnosis of the disease is still based on the demonstration of gluten-induced small-bowel mucosal villous atrophy with crypt hyperplasia. However, coeliac disease may manifest itself before the development of the overt small-intestinal lesion. Positive endomysial and transglutaminase antibodies in patients with normal small-bowel mucosal villous architecture may indicate early stage coeliac disease. Currently, the only effective treatment for the condition is a life-long strict gluten-free diet. Long-term regular follow-up of patients is recommended in order to maintain good adherence to the diet.
    Clinical Chemistry and Laboratory Medicine 09/2010; 48(9). DOI:10.1515/CCLM.2010.241 · 2.96 Impact Factor

Full-text

Download
248 Downloads
Available from
Jun 2, 2014