scholarly journals Spontaneous jejunoileal perforation as a manifestation of celiac disease—a rare entity: a case report

2020 ◽  
Vol 2020 (7) ◽  
Author(s):  
Alex Paul Guachilema Ribadeneira ◽  
Naysi Cristina Zambrano Martinez ◽  
Silvana Alexandra Valencia Valverde ◽  
Raúl Ernesto Villacis Peñaherrera ◽  
Fabian Medardo Romero Chacón ◽  
...  
Keyword(s):  
Small Intestine ◽  
Celiac Disease ◽  
Clinical Manifestations ◽  
Human Leukocyte ◽  
Rare Condition ◽  
Autoimmune Response ◽  
Classical Type ◽  
High Morbidity ◽  
Gluten Sensitive Enteropathy ◽  
Hla Dq2

Abstract Celiac disease or gluten-sensitive enteropathy is characterized by an autoimmune response in the small intestine triggered by the ingestion of gluten in the diet. It has a prevalence of 0.62% worldwide with considerable variation in incidence among countries. The clinical manifestations of celiac disease differ according to type: the classical type presents with intestinal symptoms, the non-classical type with intestinal or extraintestinal symptoms and the silent type is asymptomatic. Human leukocyte antigens (HLA)-DQ2 (DQA1_05/DQB1_02) are expressed in >90% of patients with celiac disease, and the presence of HLA-DQ2 or HLA-DQ8 (DQA1_ 0301/DQB1_0302) is necessary for its development. One complication of this disease is ulcerative jejunoileitis, a rare condition characterized by chronic idiopathic ulceration affecting the small intestine that can cause intestinal perforation resulting in high morbidity.

scholarly journals Testing for Antireticulin Antibodies in Patients with Celiac Disease Is Obsolete: a Review of Recommendations for Serologic Screening and the Literature

2013 ◽  
Vol 20 (4) ◽  
pp. 447-451 ◽  
Author(s):  
Sarada L. Nandiwada ◽  
Anne E. Tebo
Keyword(s):  
Celiac Disease ◽  
Tissue Transglutaminase ◽  
Clinical Manifestations ◽  
Autoimmune Disorder ◽  
Diagnostic Use ◽  
Gliadin Peptide ◽  
Gluten Sensitive Enteropathy ◽  
Serologic Screening ◽  
Related Proteins ◽  
Hla Dq2

ABSTRACTCeliac disease (CD) is an autoimmune disorder that occurs in genetically susceptible individuals of all ages and is triggered by immune response to gluten and related proteins. The disease is characterized by the presence of HLA-DQ2 and/or -DQ8 haplotypes, diverse clinical manifestations, gluten-sensitive enteropathy, and production of several autoantibodies of which endomysial, tissue transglutaminase, and deamidated gliadin peptide antibodies are considered specific. Although antireticulin antibodies (ARA) have historically been used in the evaluation of CD, these assays lack optimal sensitivities and specificities for routine diagnostic use. This minireview highlights the advances in CD-specific serologic testing and the rationale for eliminating ARA from CD evaluation consistent with recommendations for diagnosis.

scholarly journals TagSNP approach for HLA Risk Allele Genotyping of Saudi Celiac Disease Patients: Effectiveness and Pitfalls

2021 ◽  
Author(s):  
Reham Baaqeel ◽  
Babajan Banaganapalli ◽  
Hadiah Bassam Al Mahdi ◽  
Mohammed A. Salama ◽  
Bakr H. Alhussaini ◽  
...  
Keyword(s):  
Celiac Disease ◽  
Local Population ◽  
Human Leukocyte ◽  
Healthy Controls ◽  
Nucleotide Polymorphisms ◽  
Leukocyte Antigen ◽  
Tag Snps ◽  
Ethnic Populations ◽  
Hla Haplotypes ◽  
Hla Dq2

Background: Celiac disease (CD) is a genetically complex autoimmune disease which is triggered by dietary gluten. Human Leukocyte Antigen (HLA) class II genes are known to act as high-risk markers for CD, where >95% of CD patients carry (HLA)- DQ2 and/or DQ8 alleles. Therefore, this study was conducted to investigate the distribution of HLA haplotypes among Saudi CD patients and healthy controls by using the tag Single Nucleotide Polymorphisms (SNP).Methods: HLA-tag SNPs showing strong linkage value (r2>0.99) were used to predict the HLA DQ2 and DQ8 genotypes in 101 Saudi CD patients and in 103 healthy controls by using Real Time Polymerase Chain Reaction (RT-PCR) technique. Genotype calls were further validated by Sanger sequencing method.Results: A total of 63.7% of CD cases and of 60.2% of controls were predicted to carry HLA-DQ2 and DQ8 heterodimers, either in the homozygous or heterozygous states. The prevalence of DQ8 in our CD patients was predicted to be higher than the patients from other ethnic populations (35.6%). More than 32% of the CD patients were found to be non-carriers of HLA risk haplotypes as predicted by the tag SNPs.Conclusion: This study highlights that the Caucasian specific HLA-tag SNPs would be of limited value to accurately predict CD specific HLA haplotypes in Saudi population, when compared to the Caucasian groups. Prediction of risk haplotypes by tag SNPs in ethnic groups is a good alternate approach as long as the tag SNPs were identified from the local population genetic variant databases.

scholarly journals Immunomodulation in the Treatment of Refractory Catastrophic Antiphospholipid Syndrome

2018 ◽  
Vol 2018 ◽  
pp. 1-3
Author(s):  
Karthik Nath ◽  
Andrew McCann
Keyword(s):  
Antiphospholipid Syndrome ◽  
Clinical Manifestations ◽  
Vascular Occlusion ◽  
Rare Condition ◽  
Recent Change ◽  
High Morbidity ◽  
Primary Antiphospholipid Syndrome ◽  
Catastrophic Antiphospholipid Syndrome ◽  
Vessel Occlusion ◽  
Organ Systems

Catastrophic antiphospholipid syndrome is a rare condition with high morbidity and mortality. We present a refractory case of catastrophic antiphospholipid syndrome with a view to highlight the importance of early identification and aggressive treatment of this condition. A 36-year-old female presented with clinical manifestations of multiorgan vascular occlusion with a known history of primary antiphospholipid syndrome. The presentation was on a background of a recent change of her long-term anticoagulation from warfarin to therapeutic low-molecular-weight heparin. Given that multiorgan involvement with 3 organ systems occurred nearly simultaneously, a diagnosis of probable catastrophic antiphospholipid syndrome was made. Prompt therapeutic anticoagulation, antiplatelet, and glucocorticoid therapy was commenced. Despite this, the patient continued to demonstrate clinical features concerning for ongoing small vessel occlusion necessitating aggressive immunomodulatory therapy in the form of intravenous immunoglobulin, plasma exchange, and rituximab.

scholarly journals Modern concepts of celiac disease

2016 ◽  
Vol 97 (1) ◽  
pp. 101-107 ◽  
Author(s):  
S V Kopishinskaya
Keyword(s):  
Celiac Disease ◽  
Environmental Influence ◽  
Tissue Transglutaminase ◽  
Genetic Diseases ◽  
Clinical Manifestations ◽  
Human Leukocyte ◽  
Disease Diagnosis ◽  
Human Migration ◽  
New Drugs ◽  
Atypical Symptoms

Celiac disease is widespread autoimmune disease, which develops in genetically predisposed individuals in case of gluten intake and manifests as enteropathy and extraintestinal signs or without symptoms. Celiac disease is recognized as one of the most common genetic diseases in the world with about 1% prevalence. The review organizes literature data concerning epidemiology, pathogenesis, clinical presentation, diagnosis and treatment of celiac disease. The historical and geographical features of the celiac disease prevalence associated with the wheat consumption and human migration are described. The disease pathogenesis caused by both genetic factors, in particular the human leukocyte antigens (HLA) type, and the environmental influence, the gluten intake. The classification uniting a number of gluten-related diseases, which differ in the development mechanism and clinical manifestations, is described. Celiac disease can clinically manifest by classic and atypical symptoms or occur in a latent form. It usually manifests in early childhood after the introduction of the cereals into diet with symptoms of chronic diarrhea, delayed growth and development. Celiac disease develops throughout life and increases morbidity and mortality if left untreated. Diagnosis is based on the presence of antibodies to tissue transglutaminase, gliadin and deamidated peptides and biopsy results. An algorithm for the interpretation of the diagnostic findings in the celiac disease diagnosis is presented. Significance of gluten-free diet and new drugs in the celiac disease treatment is highlighted. Different ways to reduce the gluten toxicity for celiac patients are described, such as gliadin hydrolysis modification, gluten intake decrease, immune response activity inhibition.

scholarly journals Prevalence of Celiac Disease and Celiac Autoimmunity in the Toba Native Amerindian Community of Argentina

2015 ◽  
Vol 29 (8) ◽  
pp. 431-434 ◽  
Author(s):  
Horacio Vázquez ◽  
María de la Paz Temprano ◽  
Emilia Sugai ◽  
Stella M Scacchi ◽  
Cecilia Souza ◽  
...  
Keyword(s):  
Celiac Disease ◽  
Tissue Transglutaminase ◽  
Human Leukocyte ◽  
Screen Test ◽  
Leukocyte Antigen ◽  
Day Range ◽  
Gliadin Peptides ◽  
Endomysial Antibodies ◽  
Very High ◽  
Hla Dq2

BACKGROUND: Celiac disease (CD) is mostly recognized among subjects with a Caucasian ethnic ancestry. No studies have explored conditions predisposing Amerindians to CD.OBJECTIVE: To prospectively assess environmental, genetic and serological conditions associated with CD among members of the Toba native population attending a multidisciplinary sanitary mission.METHODS: An expert nutritionist determined daily gluten intake using an established questionnaire. Gene typing for the human leukocyte antigen (HLA) class II alleles was performed on DNA extracted from peripheral blood (HLA DQ2/DQ8 haplotype). Serum antibodies were immunoglobulin (Ig) A tissue transglutaminase (tTG) and the composite deamidated gliadin peptides/tTG Screen test. Positive cases were tested for IgA endomysial antibodies.RESULTS: A total of 144 subjects (55% female) were screened. The estimated mean gluten consumption was 43 g/day (range 3 g/day to 185 g/day). Genetic typing showed that 73 of 144 (50.7%) subjects had alleles associated with CD; 69 (94.5%) of these subjects had alleles for HLA DQ8 and four had DQ2 (5.5%). Four and six subjects had antibody concentrations above the cut-off established by the authors’ laboratory (>3 times the upper limit of normal) for IgA tTG and deamidated gliadin peptides/tTG screen, respectively. Four of these had concomitant positivity for both assays and endomysial antibodies were positive in three subjects who also presented a predisposing haplotype.CONCLUSION: The present study was the first to detect CD in Amerindians. The native Toba ethnic population has very high daily gluten consumption and a predisposing genetic background. We detected subjects with persistent CD autoimmunity and, at least, three of them fulfilled serological criteria for CD diagnosis.

scholarly journals Distinct Characteristics in Japanese Dermatitis Herpetiformis: A Review of All 91 Japanese Patients over the Last 35 Years

2012 ◽  
Vol 2012 ◽  
pp. 1-9 ◽  
Author(s):  
Chika Ohata ◽  
Norito Ishii ◽  
Takahiro Hamada ◽  
Yutaka Shimomura ◽  
Hironori Niizeki ◽  
...  
Keyword(s):  
Dermatitis Herpetiformis ◽  
Age At Onset ◽  
Human Leukocyte ◽  
Japanese Patients ◽  
Skin Lesions ◽  
Female Ratio ◽  
Unusual Distribution ◽  
Gluten Sensitive Enteropathy ◽  
Male Patients ◽  
Hla Dq2

We reviewed all 91 Japanese dermatitis herpetiformis (DH) patients reported over the last 35 years. The male-to-female ratio was 2 : 1. The mean age at onset was 43.8, and 13 years earlier for female patients. More than half of these Japanese DH patients showed granular IgA deposition in the papillary dermis, and another one-third showed fibrillar IgA deposition. The male patients with granular IgA deposition were 10 years older than those with fibrillar deposition. Whereas patients with granular IgA deposition showed typical distribution of the skin lesions, the predilection sites of DH tended to be spared in patients with fibrillar IgA deposition. Only 3 patients had definite gluten-sensitive enteropathy. There was a statistical difference in the frequency of human leukocyte antigen (HLA)-DR9 between the granular group and controls among Japanese. No patients had HLA-DQ2 or -DQ8, which is frequently found in Caucasian DH patients. The absence of HLA-DQ2/DQ8, the inability to identify celiac disease in most cases, the predominance of fibrillar IgA, and the unusual distribution of clinical lesions in Japanese patients suggest that Japanese DH may be a subset of DH patients and have a pathogenesis which is different from that currently proposed in Caucasian DH patients.

scholarly journals CELIAC DISEASE IN CHILDREN FROM MADEIRA ISLAND AND ITS PREVALENCE IN FIRST DEGREE RELATIVES

2014 ◽  
Vol 51 (2) ◽  
pp. 151-154 ◽  
Author(s):  
Joana Raquel Henriques OLIVEIRA ◽  
António Jorge CABRAL ◽  
Elena FERREIRA ◽  
Filipa CAPELINHA ◽  
Hélder SPÍNOLA ◽  
...  
Keyword(s):  
Celiac Disease ◽  
Tissue Transglutaminase ◽  
Human Leukocyte ◽  
Hla Typing ◽  
Intestinal Biopsy ◽  
Madeira Island ◽  
First Degree Relatives ◽  
Small Intestinal Biopsy ◽  
Systemic Disorder ◽  
Hla Dq2

ContextIt is well recognized that celiac disease is an immune-mediated systemic disorder highly prevalent among relatives of celiac patients.ObjectivesThe aim of this study is to determine the prevalence of celiac disease in a group of first degree relatives of celiac children, and to access the frequency of human leukocyte antigen HLA-DQ2 and DQ8 in celiac disease patients and their affected relatives.MethodsA survey was conducted of 39 children with celiac disease with follow-up in the Pediatric outpatient’s clinic of Dr. Nélio Mendonça Hospital, in Madeira Island, Portugal. Were invited 110 first degree relatives to undergo serological screen for celiac disease with IgA antibody to human recombinant tissue transglutaminase (IgA-TGG) quantification. In all seropositive relatives, small intestinal biopsy and HLA typing was recommended.ResultsHLA- typing was performed in 38 celiac patients, 28/74% DQ2 positive, 1/2% DQ8 positive and 9/24% incomplete DQ2. Positive IgA-TGG was found in five out of the 95 relatives, and CD was diagnosed in three of them. Three relatives had the presence of HLA-DQ2, two were DQ2 incomplete (DQB1*02).ConclusionsThe prevalence of celiac disease among first degree celiac patients´ relatives was 3.1%, 4.5 times higher than the general Portuguese population (0,7%) witch reinforces the need of extensive diagnostic screening in this specific group. HLA-DQ2 typing may be a tool in the diagnostic approach.

scholarly journals A Rare Medullary Carcinoma of Jejunum

2021 ◽  
Vol 156 (Supplement_1) ◽  
pp. S69-S69
Author(s):  
S Fathima ◽  
A Bredeweg
Keyword(s):  
Celiac Disease ◽  
Clinical Manifestations ◽  
Collagenous Colitis ◽  
Rare Condition ◽  
Medullary Carcinoma ◽  
Treatment Modalities ◽  
Chronic Anemia ◽  
Nuclear Expression ◽  
Appropriate Treatment

Abstract Introduction/Objective Medullary carcinoma of jejunum is an extremely rare condition. These tumors account for less than 0.04% of all colorectal cancers and less than 3 cases to date has been reported in the small intestine Methods/Case Report We present a case of 78-year-old woman with a celiac disease and collagenous colitis, chronic diarrhea, chronic anemia and 2.1 cm apple core lesion on mid to distal jejunum on CT leading to partial obstruction. Results (if a Case Study enter NA) Histologically tumor showed invasive carcinoma in a solid growth pattern with pushing border. The tumor cells were uniform, enlarged with prominent nucleoli and brisk mitotic activity. There was prominent inflammatory response within and around the tumor. Immunohistochemical stains were positive for CK7, CDX2 CK19, CKAE1-3 and negative for CD45, CK20, Chromogranin Synaptophysin, PAX-8. MLH1 &PMS2 showed loss of nuclear expression and MSH2 & MSH6 with Intact nuclear expression. Microsatellite instability was High (MSI- H) with instability in two or more microsatellite markers. Diagnosis of medullary carcinoma of jejunum was made. Conclusion Although the clinical manifestations can be consistent with signs of intestinal obstruction, often these rare tumors are discovered incidentally. Conditions such as celiac disease, Crohn’s disease, and other chronic inflammatory illnesses have been linked to contributing risk factors. Imaging and appropriate tumor markers have less role in diagnosis; however, biopsy is needed for definitive diagnosis. Even though the development of these tumors in the small bowel is rare, further enhancement of awareness can aid in the appropriate early detection and appropriate treatment modalities.

scholarly journals Diagnosing celiac disease: a review of diagnostic modalities of celiac disease

2018 ◽  
Vol 6 (9) ◽  
pp. 2882
Author(s):  
Arslaan Javaeed
Keyword(s):  
Small Intestine ◽  
Celiac Disease ◽  
Immune System ◽  
Gastrointestinal Tract ◽  
Autoimmune Disorder ◽  
The Body ◽  
Celiac Sprue ◽  
Chronic Disorder ◽  
Gluten Sensitive Enteropathy ◽  
Diagnostic Modalities

Celiac disease is known as gluten-sensitive enteropathy. By enteropathy it simply means it is pathology of the gastrointestinal tract and that is why diarrhea (a common GI symptom) is usually one of the commonest presentations of celiac disease. So, it is safe to define celiac disease as an autoimmune disorder that mainly afflicts the small intestine. By autoimmune authors are referring to a disorder in which the body’s immune system works against the body itself. It is a chronic disorder where the sufferer is not able to tolerate gliadin, which is the alcohol soluble component of gluten. Gluten of course is a protein that is usually found in common foods like barley and wheat. Celiac disease which can also be regarded as celiac sprue has a genetic and immunological aspect to its etiology both of which would need to be considered when screening anyone for celiac disease.

scholarly journals THE PREVALENCE OF HLA DQ2 AND DQ8 IN PATIENTS WITH CELIAC DISEASE, IN FAMILY AND IN GENERAL POPULATION

2015 ◽  
Vol 28 (3) ◽  
pp. 183-185 ◽  
Author(s):  
Lucila Arantes CECILIO ◽  
Mauro W. BONATTO
Keyword(s):  
Celiac Disease ◽  
General Population ◽  
Human Leukocyte ◽  
Clinical Aspect ◽  
Human Leukocyte Antigens ◽  
Gluten Sensitivity ◽  
Laboratory Examination ◽  
First Degree Relatives ◽  
Leukocyte Antigens ◽  
Hla Dq2

Background: Celiac disease is an enteropathy characterized by gluten sensitivity and broad clinical aspect. Has a multifactorial cause and depends on genetic, immunological and environmental factors for its development. The genetic influence is given mostly by the human leukocyte antigens HLA DQ2 and DQ8. Aim: To evaluate the prevalence of human leukocyte antigens DQ2 and DQ8 in three different groups: patients with celiac disease, first-degree relatives and the general population. Method: Retrospective analysis that evaluated serologic and endoscopic data of 74 patients with celiac disease and 109 non-celiac, which were subdivided into two subgroups: non-celiac who had first-degree relatives with celiac and non-celiac who did not. All patients underwent laboratory examination for screening genetic sensitivity given by HLA DQ2 and HLA DQ8 by. Results: The presence of HLA DQ2 and DQ8 was identified in 98,4% of 74 celiac patients, of which 79,7% had only HLA DQ2; 8,1% had only HLA DQ8 and 10,8% had both antigens histocompatibility. In the group of relatives of celiac patients, were included 29 patients; among them, 89,6% had HLA DQ2 and/or DQ8; 76% only the HLA DQ2, 10,3% only HLA DQ8 and 3,4% presented both human leukocyte antigens (HLA). Conclusion: HLA DQ2/DQ8 was present in 98,4% of celiac patients; 89,6% relatives of celiac family and in 55,4% of people from the general population without family celiac.

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