Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0268596 (EMA)
 2,520 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

In a period of over 18 years the prominent medical bibliographic marks with regard to definition, diagnosis and examinations of coeliac disease (CD) have been compared and as far as possible reproduced. The results confirm the remarks derivating from wider statistics. From the beginning of 1975 to the first six months of 1993 in Merate Hospital Pediatric Division, 323 patients were submitted to a first jejunal peroral biopsy in 133 cases (41.2%) CD was diagnosed. Since 34 children (25.6%) concluded the ESPGAN diagnostic iter with 3 consecutive biopsies, the reasons why the other patients didn't finish or respect the programs are here examined. Since 1987 a specific anti-gliadin (IgA and IgG) antibodies titrimetry has been available either in the investigation of suspect symptomatology or like control mark during the assessment or after a sure CD diagnosis. Since october 1992 antiendomysium antibodies (EMA or AEA IgA) have been determined only in selected patients. From the examination of 24 subjects now checked with AGA IgA/IgG and EMA and with a first positive biopsy, it is possible to point out that only one jejunal biopsy (or at the most a second one as a control during the gluten challenge) with the guarantee of haematologic patterns doesn't raise doubts about a CD diagnosis. Analogous considerations mainly refer to the atypical CD "late onset" when a constant lack of AGA and EMA during gluten free diet (GFD) or their changes in a non compliance or in gluten challenge, can exclude a following hystological confirmation. By this experience it follows that a specific antigliadin and antiendomysium antibodies investigation is indispensable to the shortening of diagnostic times, to the reduction of an often unwelcome invasive diagnostic method and to the discovery of the "CD iceberg".
 ...
PMID:[Celiac disease and the evolution of its diagnosis. Comparison and experience at a hospital pediatric department (1975-1993). (Second part)]. 815 77

The spectrum of clinical manifestations of coeliac disease, the most common chronic intestinal disorder in children, has widened considerably over the past years and new associations with other diseases, both immunological and non-immunological, have been described. AGA and EMA have proved to be an efficient screening method both in populations with gastrointestinal pathologies and in groups of pauci- or even asymptomatic subjects. The clinical picture of beta-thalassemia has gradually altered over the years owing to improved treatment. However, growth is still affected in a considerable proportion of thalassemic patients. A number of hormonal and other causes, combined in varying ways, contribute to determining this clinical condition. The authors report a case of coeliac disease in an adolescent with thalassemia major characterised by anorexia, arrest of weight gain and low stature. The identification of a new association between coeliac disease and thalassemia major highlights the need to search for this pathology in all thalassemic patients who present scarce growth in stature and weight.
 ...
PMID:[Celiac disease associated with major thalassemia. A case report]. 899 85

It is well known that Down's syndrome patients frequently suffer from immune system diseases leading to the production of autoantibodies and the onset of correlated pathologies. These disorders become increasingly frequent as the patients grow older and the onset of one autoimmune disease often predisposes the development of others. Autoimmune thyroiditis is the most frequent disorder and appears to affect 39% of adult patients. Over the past years a number of reports have been published regarding the coexistence of various autoimmune diseases in DS patients, but little is still known about the relationship between these pathologies and celiac disease. In order to contribute to knowledge regarding the prevalence of this association, the authors report a case of a DS patient who developed diabetes mellitus, hypothyroidism and celiac disease at different times. This case provides further confirmation of the association between Down's syndrome and autoimmune pathologies. The authors feel that follow-up programmes for DS patients should include an evaluation of thyroid function and antithyroid antibodies given that the onset of glandular hypofunction may be very subtle. Furthermore, they should also include tests to assay glycemia, anti-pancreatic insula and anti-insulin antibodies for diabetes and AGA and EMA for celiac disease.
 ...
PMID:[Diabetes, hypothyroidism and celiac disease in Down's syndrome. A case report]. 955 94

Coeliac disease has been reported to occur in 2-5 per cent of insulin-dependent diabetic patients (IDDM). Suitable non-invasive screening tests would allow identification of these patients. The aim of this study was to determine the value of the red cell distribution width (RDW) in detecting unrecognised coeliac disease in insulin-dependent diabetic patients (IDDM). All patients (n = 208) attending the Diabetic out-patient clinics at 2 adjacent centres who had a full blood picture and RDW carried out in the past 18 months were included. IDDM patients with an elevated RDW were identified and their charts were reviewed to determine if they had symptoms or laboratory abnormalities compatible with coeliac disease. They were invited to attend for serological screening. Ninety-five of 208 patients had an elevated RDW of whom 66 had non-insulin dependent diabetes mellitus and 29 had IDDM. Two of the 29 IDDM patients had died in the interim period. Six of the remaining 27 IDDM patients had previously been tested for serological markers associated with coeliac disease, of whom 1 had a positive antigliadin antibody titre (IgA-AGA 199 EU) and normal duodenal biopsy. Eighteen of the remaining 21 patients with IDDM consented to serological testing of whom only 1 had a positive titre of antiendomysial antibody (IgA-EMA) and villous atrophy. Although the RDW is known from previous studies to be a sensitive predictor for coeliac disease, this study has demonstrated its poor specificity in predicting IDDM patients who may have coeliac disease. The RDW is not recommended as a screening test for coeliac disease in patients with IDDM.
 ...
PMID:Application of red cell distribution width to screening for coeliac disease in insulin-dependent diabetes mellitus. 1054 Jul 81

Celiac disease (CD) has been acknowledge as being responsible for numerous secondary pathologies, in particular autoimmune and neoplastic diseases. Whether CD is more prevalent in patients with non-Hodgkin's lymphoma (NHL) than in the normal population is not known. Accordingly, we carried out a study of 86 patients hospitalized in the Section of Oncology, Haematology and Internal Medicine of the Department of Medical, Oncological and Radiological Sciences of the University of Modena and Reggio Emilia and who, between 1988 and 1995 had been diagnosed as affected by NHL. On diagnosis, and before the beginning of antitumour therapy, all the patients were tested for antigliadin (AGA IgA and IgG) and antiendomysium (EMA) antibodies together with total class IgA antibody levels. Our findings showed that none of the 86 patients had an IgA deficit, while one tested positive for AGA IgA (43.9% v.n. < 7.5). The same patient also tested positive for EMA. The extremely high sensitivity and specificity of the AGA IgA and EMA led us to conclude that the patient was affected by CD, although his early death precluded confirmation by biopsy. The presence of one celiac patient among 86 NHL patients examined at the onset of the disease would suggest that CD is not infrequent in NHL. The numbers involved in our study are insufficient for statistical purposes, and we are therefore awaiting the results of a SIGEP multi-centre study into the connection between CD and lymphomas.
 ...
PMID:[Celiac disease and lymphoma]. 1068 58

In recent years, there has been a marked increase in the diagnostic workups for celiac disease among military personnel, thereby significantly increasing overall laboratory testing expenditures and burden. We evaluated the serologic testing procedure in symptomatic young adults, using a "cost-effect" approach. We evaluated the serologic screening policy for celiac disease among serologically tested military personnel. The study population was divided into subgroups according to the clinical presentation prior to screening: isolated (low-risk) and combined complaints (high-risk). Sensitivity, specificity, and predictive values of serologic markers for celiac disease were evaluated. Cost analyses were based on diagnostic expenditures. Cost-effect ratio is expressed as cost per newly diagnosed patients, and cost minimization as cost per screened individuals. Five hundred thirty-eight military personnel were serologically tested for celiac disease. Eight new cases of celiac were diagnosed, all of whom belonged to the high-risk subgroup and tested positive for at least two positive serologic tests (tTG + EMA or tTG + AGA IgG + EMA). EMA Ab measured the highest sensitivity, specificity, and predictive values. Average screening expenditure was U.S. $287 per patient. The lowest cost-effect and cost minimization ratios were achieved by implementing a two-step single-marker screening protocol for high-risk subjects and one-step follow-up for low-risk subjects. Among patient population of young adults, selective diagnostic workup could result in cost-minimization without risking quality of diagnosis. From a cost-effect perspective, implemented screening procedures need to be dependent on subgroup: low-risk, clinical follow-up; and high-risk, serological testing for EMA and, only if positive, possibly a small-bowel biopsy.
 ...
PMID:Serologic testing for celiac disease in young adults--a cost-effect analysis. 1584 21

Histological confirmation of infiltrative lesions via small bowel biopsy is the gold standard for diagnosing celiac disease. Four serum antibody assays may serve as a first-step diagnostic tool to identify biopsy candidates: immunoglobulin A tissue transglutaminase (IgA tTG), IgA endomysial antibody (IgA EMA), IgA antigliadin antibody (IgA AGA), and IgG antigliadin antibody (IgG AGA). IgA tTG and IgA EMA offer the best diagnostic accuracy. Patients with selective IgA deficiency may have falsely negative IgA assays (strength of recommendation [SOR]: B, based on a systematic review, multiple small cross-sectional studies, and expert opinion).
 ...
PMID:Clinical inquiries: What blood tests help diagnose celiac disease? 1713 49

A variety of signs and symptoms have been reported in regards to the typical and atypical presentations of CD. It is now well recognised that its onset may occur at any age and that atypical forms of CD are much more prevalent than its classic form (1).In this case, where the patient presented with high BMI and evidence of grade I of fatty liver disease, CD was suspected due to mildly abnormal bloating, cryptogenic hypertransaminasemia, abnormal LFT and poor response to fatty liver treatment. This presentation type is not uncommon; diagnosis was confirmed by the presence of subtotal villous atrophy in the biopsy specimen, positive specific antibody screening (AGA, tTG and EMA antibodies), negative antibody screening and normalization of liver enzymes on a gluten-free diet (Tab. 2, Ref. 13).
 ...
PMID:Celiac disease hidden by cryptogenic hypertransaminasemia mistaken for fatty liver. 2402 Jul 15

The aim of this review was to identify, evaluate and summarize all relevant studies reporting on the clinical response to gluten challenge by adult or pediatric patients with suspected or diagnosed coeliac disease (CD) on a gluten-free diet. We evaluated the effect of gluten challenge on changes in symptoms, intestinal mucosa histology, and serum antibodies. A systematic electronic search was performed for studies published as of 1966 using PubMed and Scopus databases. In the reviewed studies, doses ranged from 0.2 to 30 g/day of wheat gluten or comprised a gluten-containing diet. The onset of symptoms upon gluten intake varied largely from days to months and did not parallel serum antibody or histological changes. Within 3 months of gluten challenge, 70%-100% of pediatric CD patients became positive for AGA-IgA and EMA-IgA antibodies and 50%-70% for AGA-IgG. A limited number of trials suggest that no more than half of adult patients developed positive AGA-IgA, EMA-IgA, tTG-IgA or DGP-IgA/IgG titers. Approximately 50%-100% of pediatric and adult patients experienced mucosal relapse of gluten provocation within 3 months, which was preceded by increased mucosal intra-epithelial lymphocytes within several days of challenge. A 3-month high-dose gluten challenge should be suitable to diagnose the majority of CD patients. In some cases prolonged challenge may be needed to verify diagnosis. Combination testing for antibodies and mucosal histology may fasten the diagnosis.
...
PMID:The clinical response to gluten challenge: a review of the literature. 2428 13

Coeliac disease (CD) develops in genetically susceptible individuals who, in response to unclear environmental triggers, develop an immune response triggered by gluten ingestion. It is now recognised as a global disease affecting about 0.7% of the world's population. The clinical presentation ranges from malabsorption to asymptomatic individuals diagnosed by screening high-risk groups. Diagnosis requires the demonstration of small intestinal villous atrophy in the presence of circulating coeliac auto-antibodies and/or an unequivocal response to a gluten-free diet (GFD). Recent guidelines suggest that, in a subset of children, duodenal biopsies can be avoided in the presence of strict symptomatic and serological criteria. While the majority of patients respond to a GFD, up to 20% of patients with CD have persistent or recurrent symptoms. There are several aetiologies for residual or new symptoms in a patient with CD on a GFD, with inadvertent exposure to gluten being the most common. Following a GFD can be challenging for patients with CD and understanding the barriers/challenges faced by patients in maintaining a GFD is crucial for compliance. Abbreviations: AGA: anti-gliadin antibodies; Anti-DGP-ab: anti-deamidated gliadin peptide antibodies; Anti-tTG-ab: anti-tissue transglutaminase antibodies; ATD: auto-immune thyroid disorders; BMD: bone mineral density; CD: coeliac disease; DH: dermatitis herpetiformis; EMA: anti-endomysial antibodies; FDR: first-degree relatives; GFD: gluten-free diet; HbA1c: haemoglobin A1c; HLA: human leucocyte antigen; IBS: irritable bowel syndrome; LMIC: low- and middle-income countries; NPV: negative predictive value; NRCD: non-responsive coeliac disease; POCT: point-of-care tests; SDR: second-degree relatives; SIBO: small intestinal bacterial overgrowth; T1DM: type 1 diabetes mellitus; ULN: upper limit of normal.
 ...
PMID:Coeliac disease. 3009 30


1