Celiac Sprue

Farrell, Richard J.; Kelly, Ciarán P.

doi:10.1056/nejmra010852

Cited by 731 publications

(610 citation statements)

References 61 publications

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“…Retrospective analysis of clinical data shows that most adult celiacs had no sign of the disease during their childhood, thereby confirming that CD can develop in adulthood. [25][26][27][28] About 20% of diagnoses occur in people over 60 years of age. 29 CD prevalence is higher in females than in males worldwide, with a mean F/M ratio of 2 : 1.…”

Section: Introductionmentioning

confidence: 99%

“…Thanks to the increased frequency of early CD diagnosis, this form is less and less often observed; however, some patients can still present with wasting cachexia characterized by muscle atrophy and cramps, severe hypoalbuminemia and electrolyte and metabolic disturbances, leading to hypocalcemic tetany and spontaneous bone fractures from marked osteoporosis. 27,28,33 In the subclinical form, gastrointestinal manifestations can be mild or absent and are often completely overshadowed by extra-intestinal symptoms, especially in those patients with a mild mucosal lesion confined to the proximal small intestine. Patients in this group have an isolated iron-deficient anemia, 34 unexplained folic acid deficiency and a hemorrhagic syndrome caused by vitamin K deficiency.…”

Section: Introductionmentioning

confidence: 99%

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Celiac disease: diagnostic criteria in progress

2011

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Until a few years ago, celiac disease (CD) was thought to be a rare food intolerance that was confined to childhood and characterized by severe malabsorption and flat intestinal mucosa. Currently, CD is regarded as an autoimmune disorder that is common in the general population (affecting 1 in 100 individuals), with possible onset at any age and with many possible presentations. The identification of CD is challenging because it can begin not only with diarrhea and weight loss but also with atypical gastrointestinal (constipation and recurrent abdominal pain) and extra-intestinal symptoms (anemia, raised transaminases, osteoporosis, recurrent miscarriages, aphthous stomatitis and associated autoimmune disorders), or it could be completely symptomless. Over the last 20 years, the diagnostic accuracy of serology for CD has progressively increased with the development of highly reliable tests, such as the detection of IgA tissue transglutaminase and antiendomysial and IgG antideamidated gliadin peptide antibodies. The routine use of antibody markers has allowed researchers to discover a very high number of 'borderline' cases, characterized by positive serology and mild intestinal lesions or normal small intestine architecture, which can be classified as potential CD. Therefore, it is evident that the 'old celiac disease' with flat mucosa is only a part of the spectrum of CD. It is possible that serology could identify CD in its early stages, before the appearance of severe intestinal damage. In cases with a positive serology but with mild or absent intestinal lesions, the detection of HLA-DQ2 and HLA-DQ8 can help reinforce or exclude the diagnosis of gluten sensitivity.

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Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Celiac disease: diagnostic criteria in progress

2011

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“…3,4 The main clinical symptoms include chronic diarrhoea and growth retardation, but abdominal pain, anaemia, osteopenia and chronic fatigue may also occur. 5 However, most patients show only some of these symptoms, while others are monosymptomatic or have no symptoms at all. Coeliac disease is caused by dietary intake of gluten peptides from wheat and related proteins from barley and rye.…”

Section: Introductionmentioning

confidence: 99%

Defining the contribution of the HLA region to cis DQ2-positive coeliac disease patients

et al. 2004

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The major genetic susceptibility to coeliac disease is contributed by the human leukocyte antigen (HLA) region. The primary association is with the HLA-DQ2 molecule, encoded by the DQA1*05 and DQB1*02 alleles, which is expressed by over 90% of patients. The aim of our study was to perform an extensive scan of the entire HLA region to determine whether there is evidence for the presence of additional HLA susceptibility genes for coeliac disease in the Dutch population, acting independently of DQ2. In all, 16 microsatellite markers and the DQA1 and DQB1 genes were genotyped in simplex cis DQ2-positive coeliac disease families and cis DQ2-positive control families. Allele frequencies of markers on phase-known DQ2-positive haplotypes transmitted to patients were compared to a combined group of DQ2-positive nontransmitted and control haplotypes, thereby controlling for the DQ2 contribution. No significant differences at any of the marker loci were detected, suggesting that DQ2 is the major HLA risk factor for coeliac disease. Individuals homozygous for DQ2 or heterozygous for DQA1*05-DQB1*02/DQA1*0201-DQB1*02 were found to be at five-fold increased risk for development of coeliac disease (Po10 À8 ). This risk seems to be conferred by the presence of a second DQB1*02 allele next to one DQA1*05-DQB1*02 haplotype, independently of the second DQA1 allele.

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“…After this diagnosis, he attempted to follow a GFD; however, following nutritional consultation for persistent symptoms, it was discovered that his diet was not completely gluten free. In patients with CD, approximately 70% of patients have symptomatic improvement within 2 weeks after starting a GFD [10]. However, gluten is present in many processed foods because wheat flour is used as a thickener in many items.…”

Section: Discussionmentioning

confidence: 99%

An unexpected deterrent in diagnosing refractory celiac disease and enteropathy-associated T-cell lymphoma: a gluten-free diet

Hussain

Hussain²,

Chatterjee

et al. 2018

Journal of Community Hospital Internal Medicine Perspectives

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Enteropathy-associated T-cell lymphoma (EATL) is a rare disease found in the small bowel and is seen most commonly in patients with refractory celiac disease (RCD). We present a case of an elderly male with celiac disease (CD) diagnosed in childhood with months of abdominal pain and diarrhea despite attempting to avoid gluten in his diet. After persistent symptoms for months, the patient was admitted for an acute abdomen and was found to have small bowel perforation due to a jejunal mass that was diagnosed as an EATL. In 2–5% of adult onset CD, serious complications such as RCD or malignancy develop. The clinical course for EATL is aggressive and generally has a poor prognosis. This case highlights the importance of early clinical suspicion for a small bowel malignancy in patients with a long-standing history of CD and acute worsening of symptoms. Early workup and diagnosis is vital in improving morbidity and mortality in patients with EATL.

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Celiac Sprue

Cited by 731 publications

References 61 publications

Celiac disease: diagnostic criteria in progress

Celiac disease: diagnostic criteria in progress

Defining the contribution of the HLA region to cis DQ2-positive coeliac disease patients

An unexpected deterrent in diagnosing refractory celiac disease and enteropathy-associated T-cell lymphoma: a gluten-free diet

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