Presentations of adult celiac disease in a nationwide patient support group

Recent epidemiological studies primarily from Europe document that adult celiac disease often lacks the classic presentation of steatorrhea and weight loss. There are few surveys of adult celiac disease in the United States. We surveyed the large population of a nationwide patient support group to determine their disease presentations. In the initial survey (N = 1032 respondents), the median age at onset was 46 years, and the diagnosis of adult celiac disease was often delayed (median 12 months, with 21% delayed over 10 years). Only 32% of adults were underweight, and only about 50% reported frequent diarrhea and weight loss. A second survey documented that common presenting symptoms were fatigue (82%), abdominal pain (77%), bloating or gas (73%), and anemia (63%). Initial physician diagnoses were often irritable bowel syndrome (37%), psychological disorders (29%), and fibromyalgia (9%). These initial presentations are similar to those in Europe and often resemble irritable bowel syndrome.     

Trends in the presentation of celiac disease

Purpose

Screening studies have revealed that celiac disease is common in the United States; however, there are scant data on the mode of presentation. We analyzed the trends in clinical presentation over the last 52 years in a large cohort of biopsy-proven patients seen in 1 center.

Subjects and methods

Patients (n = 590) were divided into 6 groups based on the year of diagnosis (1952-2004). Groups were compared for trends in age at diagnosis, childhood diagnosis, duration of symptoms, mode of presentation (diarrhea, bone disease, anemia, incidental at esophagogastroduodenoscopy, screening), and presence of malignancy.

Results

Diagnosis was at an older age since 1980 (P = .007), and there was a significant negative linear trend in patients presenting with diarrhea (P<.001) over time and a positive linear trend in asymptomatic patients detected on screening (P<.001). There was a significant negative linear trend in patients with a malignancy (P = .02) and duration of symptoms before diagnosis of celiac disease (P = .001), although only the subgroup without diarrhea had improvement in delay of diagnosis of celiac disease (assessed by a shorter duration of symptoms) (P = .05). Comparison of patients with and without diarrhea showed no significant difference in age (42.9 years vs 43.7 years, P = .59), gender (29.3% M vs 34.6%, P = .59), and presence of childhood disease (8.0% vs 9.8%, P = .43) or malignancies (9.8% vs 8.9%, P = .71).

Conclusion

There is a trend toward fewer patients presenting with symptomatic celiac disease characterized by diarrhea and a significant shift toward more patients presenting as asymptomatic adults detected at screening.     

Prevalence of celiac disease among school children in Punjab, North India

BACKGROUND: Celiac disease, as of today, is said to exist in almost all parts of the world, although it is rare among people of purely African-Caribbean, Japanese and Chinese background. The disease has also been considered uncommon in India until recently. Hospital records have revealed an increasing trend of the disease in predominantly wheat-eating areas of North India. The aim of the present study was to determine the prevalence of celiac disease among school children in Punjab, North India. METHODS: The study was carried out in the Ludhiana district of Punjab, Northern India. A total of 4347 children aged 3-17 years attending different schools were enrolled. A structured questionnaire was used to collect sociodemographic data and symptoms and signs related to celiac disease and various sociodemographic factors. The screening for celiac disease for the suspected celiacs was done by testing for antitissue transglutaminase (anti-tTG) by indirect solid-phase immunometric assay (ELISA). All children with high anti-tTG whose parents consented underwent upper gastrointestinal endoscopy for small bowel biopsy from the second part of the duodenum. Histopathology was expressed according to the Marsh classification of 1992. Follow up was carried out among children who were put on a gluten-restricted diet, at monthly intervals for 3 months and every 3 months thereafter. The diagnosis of celiac disease was established on the basis of the revised European Society of Paediatric Gastroenterologists and Nutritionists (ESPGAN) criteria (confirmed cases). RESULTS: A total of 4347 school children (1967 girls, 2380 boys, age range 3-17 years) were screened for celiac disease. Out of these, 198 suspected children were identified for further evaluation. Twenty-one children tested positive for anti-tTG assay (10.6%, 95% confidence interval: 16.91-34.79). Seventeen of these 21 children agreed to undergo biopsy; of these, 14 had histological changes consistent with celiac disease and all these 14 children had clinical response to gluten restriction. Three children with high anti-tTG had normal mucosa on duodenal biopsy and were not labelled as being in the celiac disease group. In the final analysis the disease prevalence was one in 310 children. CONCLUSIONS: This is the first study on celiac disease prevalence among school children from India. Although this disease frequency of one in 310 is thought to be an under-assessment, it clearly shows that celiac disease is not rare in wheat-eating areas of North India.     

Non-dietary forms of treatment for adult celiac disease

At present, treatment for celiac disease includes a strict gluten-free diet. Compliance, however, is difficult and gluten-free food products are costly, and, sometimes very inconvenient. A number of potential alternative measures have been proposed to either replace or supplement gluten-free diet therapy. In the past, non-dietary forms of treatment were used (e.g., corticosteroids) by some clinicians, often to supplement a gluten-free diet in patients that appeared to be poorly responsive to a gluten-free diet. Some of new and novel non-dietary measures have already advanced to a clinical trial phase. There are still some difficulties even if initial studies suggest a particularly exciting and novel form of non-dietary treatment. In particular, precise monitoring of the response to these agents will become critical. Symptom or laboratory improvement may be important, but it will be critical to ensure that ongoing inflammatory change and mucosal injury are not present. Therapeutic trials will be made more difficult because there is already an effective treatment regimen.     

Value of endoscopic markers in celiac disease

Duodenoscopy in celiac disease has identified several markers of the disease. Our aim was to evaluate, in a prospective study, the usefulness of the different endoscopic features in 100 consecutive cases referred to endoscopy for intestinal biopsy. Histological examination of duodenal samples showed severe villous atrophy (grade III/IV) in 36 patients. Of these patients, 34 had endoscopic markers suggestive of celiac disease. These were reduction in number or loss of Kerkring's folds (in 27), mosaic pattern (14), scalloped folds (12), and visibility of the underlying blood vessels (5). Endoscopic visualization of these markers had a sensitivity of 94%, a specificity of 92%, and a positive predictive value of 84%. Reduction in number, or loss of, Kerkring's folds was the most sensitive (76%) and specific (98%) single endoscopic change indicating celiac disease. Duodenoscopy permitted diagnosis in three of four asymptomatic patients in a group of 24 first-degree relatives of celiac disease patients. We conclude that endoscopy of distal duodenum is a sensitive and specific indicator of celiac disease.     

Unusual presentation: pulmonary hemosiderosis with celiac disease and retinitis pigmentosa in a child

Idiopathic pulmonary hemosiderosis (IPH) is a rare disease characterized by anemia, hemoptysis and recurrent alveolar hemorrhage. The combination of IPH and celiac disease (CD) is extremely rare. We report a 9-year-old boy with Lane-Hamilton syndrome, co-occurrence of pulmonary hemosiderosis with CD. This presentation is unique presentation because he has also retinal pigmentation.     

Refractory celiac disease

Refractory celiac disease (RCD) affects patients who have failed to heal after 6–12 months of a strict gluten-free diet (GFD) and when other causes of symptoms (including malignancy) have been ruled out. It may also occur in patients who previously had responded to a long-term GFD. RCD may be categorized as RCD1 (normal immunophenotype) and RCD2 (aberrant immunophenotype). RCD1 usually responds to a continued GFD, nutritional support, and therapeutic agents such as corticosteroids. In contrast, clinical response in RCD2 is incomplete and prognosis is often poor. RCD (particularly RCD2) is associated with serious complications, such as ulcerative jejunitis and enteropathy-associated T-cell lymphoma (EATL). Strict clinical and laboratory criteria should be used to diagnose RCD and specialized tests for aberrancy and clonality should be interpreted in the context of their sensitivity and specificity. Adequate nutritional support and anti-inflammatory treatment may even allow patients with RCD2 to attain a clinical remission.     

Detection of adult celiac disease using duodenal screening biopsies over a 30-year period

BACKGROUND:

Serological studies suggest that celiac disease may be present in approximately 0.5% to 1% of the North American population. Screening data based on small intestinal biopsy performed during routine endoscopic evaluations are not available.

METHODS:

Patients referred between January 1982 and December 2011 for evaluation of gastrointestinal symptoms and requiring elective investigative upper endoscopic evaluation underwent duodenal biopsies to determine whether changes of adult celiac disease were present.

RESULTS:

A total of 9665 patients, including 4008 (41.5%) males and 5657 (68.5%) females, underwent elective endoscopies and duodenal biopsies. Of these, 234 (2.4%) exhibited changes of celiac disease including 73 males (1.8%) and 161 females (2.8%). During the first 20 years, the number of biopsy-positive patients in five-year intervals progressively decreased and, subsequently, during the next 10 years, the number progressively increased.

CONCLUSIONS:

Celiac disease is far more common in specialist practice than has been suggested in the evaluation of healthy populations using serological screening studies. Endoscopic duodenal biopsy is an important method of identifying underlying celiac disease and should be routinely considered in all patients undergoing an elective endoscopic evaluation. Noninherited factors, possibly environmental, may play a role in the appearance of biopsy-defined celiac disease and alter detection over time.     

Adult celiac disease in the elderly

There is an increased awareness that celiac disease may occur in the elderly although presentations with either diarrhea, weight loss or both may be less common causing delays in diagnosis for prolonged periods. Higher detection rates also seem evident owing to active case screening, largely through serodiagnostic measures. In some elderly patients who are genetically predisposed, it has been hypothesized that celiac disease might be precipitated late in life by an antigen, possibly from an infectious agent. As a result, peptide mimicry or other poorly-defined mechanisms may precipitate an autoimmune gluten-dependent clinical state. Although diarrhea and weight loss occur, only isolated iron deficiency anemia may be present at the time of initial diagnosis. In addition, the risk of other autoimmune disorders, particularly autoimmune thyroiditis, and bone disease, are increased. Osteopenia may also be associated with an increased risk of fractures. Finally, elderly celiacs have an increased risk of malignant intestinal disease, especially lymphoma.     

Hematological manifestations of celiac disease

Abstract

Celiac disease, an autoimmune disease once thought to be uncommon, is now being increasingly identified. Our improved diagnostic modalities have allowed us to diagnose more and more patients with atypical symptoms who improve on gluten-free diet (GFD). We discuss here the latest findings regarding the various hematological manifestations of celiac disease and their management. Anemia remains the most common hematological manifestation of celiac disease due to many mechanisms, and can be the sole presenting symptom. Other manifestations include thrombocytosis and thrombocythemia, leukopenia, thromboembolism, increased bleeding tendency, IgA deficiency, splenic dysfunction, and lymphoma. The diagnosis of celiac disease should always be kept in mind when a patient presents with unexplained and isolated hematological finding. Once diagnosed, patients should adhere to GFD and be educated about the potential complications of this disease. We herein present an algorithm for adequate management and follow-up.     

Capsule endoscopy in celiac disease

Video capsule endoscopy is an attractive and patient- friendly tool that provides high quality images of the small bowel. Obscure gastrointestinal bleeding is the primary and most evaluated indication to capsule endoscopy; however, indications are expanding and a small number of preliminary reports have been presented concerning the role of video capsule endoscopy in the diagnosis of celiac disease. The purpose of this review is to update the current knowledge and to hypothesize on future perspectives of the use of video capsule endoscopy in patients with celiac disease.     

Eosinophilic esophagitis in children with celiac disease

Background and Aims:  Eosinophilic esophagitis and celiac disease are distinct gastrointestinal disorders. The present study in children highlights the possible coexistence of these two conditions. This study also analyzes the epidemiological and clinical profiles of these patients.
Methods:  The medical records of patients diagnosed with celiac disease from 1 April 1999 to 31 March 2007 were reviewed. Patients with coincident histological diagnosis of eosinophilic esophagitis were retrospectively identified. The presenting symptoms, laboratory evaluations, endoscopic and histopathological findings, and treatment and follow-up outcomes of these patients were analyzed.
Results:  Of the 221 patients with celiac disease, seven (3.2%) were also diagnosed with eosinophilic esophagitis. A majority (6/7) presented with periumbilical pain and diarrhea. None had dysphagia. Each patient had abnormal celiac screening tests. Three patients had peripheral blood eosinophilia and elevated eosinophil cationic protein. Endoscopic changes of eosinophilic esophagitis and celiac disease were apparent in the majority of patients (6/7). A gluten-free diet was instituted in every patient. Topical corticosteroid therapy was started in one patient at diagnosis and in another patient after repeat endoscopic and histopathological evaluations.
Conclusions:  Awareness of the potential coexistence of eosinophilic esophagitis and celiac disease should promote optimal diagnosis of these conditions. Routine esophageal biopsies may be warranted when investigating for celiac disease.     

Esophageal manifestations of celiac disease

Celiac disease (CD) may often be associated with various motor disorders affecting the different segments of the digestive tract, including the esophagus. Although it has not been universally reported, some available evidences indicate that pediatric and adult celiac patients could manifest a higher frequency of esophagitis and gastroesophageal reflux disease‐related symptoms compared to nonceliac patients. In addition, several published studies have consistently shown the efficacy of a gluten‐free diet in rapidly controlling esophageal symptoms and in preventing their recurrence. Since the participation of gluten in the esophageal symptoms of CD seems clear, its intimate mechanisms have yet to be elucidated, and several hypothesis have been proposed, including the specific immune alterations characterizing CD, the reduction in nutrient absorption determining the arrival of intact gluten to distal gastrointestinal segments, and various dysregulations in the function of gastrointestinal hormones and peptides. Recent studies have suggested the existence of a possible relationship between CD and eosinophilic esophagitis, which should be more deeply investigated.     

Age-related differences in celiac disease: Specific characteristics of adult presentation

Celiac disease may appear both in early childhood andin elderly subjects. Current knowledge of the disease has revealed some differences associated to the age of presentation. Furthermore, monitoring and prognosis of celiac subjects can vary depending on the pediatric or adult stage. The main objective of this review is to provide guidance for the adult diagnostic and follow-up processes, which must be tailored specifically for adults and be different from pediatric patients.