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PubMed2003

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.

Adult↗

PubMed2003

Clinical and neurological abnormalities in adult celiac disease.

We assessed the occurrence of neurological signs and symptoms in adult patients with celiac disease and evaluated the correlation between neurological features and diet. A total of 176 patients and 52 age-matched controls underwent a semistructural interview and a neurologic examination. The effect of gluten-free diet was evaluated by comparing the prevalence of signs and symptoms among patients adhering to a gluten-free diet and patients on an unrestricted diet. The occurrence of headache, dysthymia and signs of peripheral neuropathy was significantly higher in patients with celiac disease than in control subjects. Adherence to a strict gluten-free diet was associated with a significant reduction of headache, dysthymia, cramps and weakness, but did not modify the occurrence of paresthesia or hyporeflexia. Neurological signs and symptoms are associated with celiac disease and can be ameliorated by a gluten-free diet.

Adolescent↗

PubMed2005

Clinical and anthropometric profile of children with celiac disease in Punjab (North India).

This prospective study was carried out to evaluate the clinical and anthropometric profile of 71 children confirmed to have celiac disease on the basis of clinical features, duodenal biopsy and unequivocal improvement on gluten-free diet. Serological tests were performed in 35 cases. The patients were divided into three age groups <5 years, 5-10 years, and >10 years as per the age of presentation to the hospital. Mean age was 8.7 years with a slight female preponderance. Diarrhea was the commonest presentation in group I and failure to thrive in group III. All patients in group III, had weight for age (w/a) <3rd percentile and majority (83 per cent) had short stature, with delayed puberty in all. All children had significant improvement in symptoms and growth on gluten restriction. None of the patients had been suspected to have celiac disease before, which signifies that in spite of increasing incidence of celiac disease, this disease is grossly under-diagnosed in North India where wheat is the staple diet. It is essential to make an early diagnosis of celiac disease in children to prevent growth delay.

Adolescent↗

PubMed1989

Neutrophil and eosinophil involvement of the small bowel in patients with celiac disease and Crohn's disease: studies on the secretion rate and immunohistochemical localization of granulocyte granule constituents.

PURPOSE: The concentrations of myeloperoxidase (MPO), a neutrophil granule constituent, and eosinophil cationic protein (ECP), a specific eosinophil granule protein, were measured in jejunal perfusion fluid in an attempt to elucidate the neutrophil and eosinophil involvement of the small bowel in health and disease. PATIENTS AND METHODS: The control group consisted of 14 males and two females. Ten patients (seven males and three females) with Crohn's disease and seven patients (two males and five females) with celiac disease were also studied; in addition, one patient with relapsing giardiasis, one patient with giardiasis and complete absence of plasma cells in small intestinal lamina propria, and one patient with selective IgA deficiency and no IgA plasma cells in duodeno-jejunal lamina propria were evaluated. Segmental perfusion of the jejunum was performed according to a previously described method. MPO and ECP were measured by radioimmunoassays. RESULTS: In healthy control subjects, the concentrations of both granule proteins were in a narrow range and much higher than would have been anticipated from passive leakage from circulating blood. In patients with celiac disease, the perfusion fluid concentrations of MPO and ECP were on average 3.5 and eight times, respectively, higher than the values seen in the controls. The jejunal segment perfused in patients with Crohn's disease was endoscopically and histologically normal. The perfusion fluid concentrations of MPO and ECP were increased 3.5 and two times, respectively, compared with that in the control subjects. Both patient groups and the control group had similar perfusion fluid concentrations of albumin. Data on MPO and ECP expressed as jejunal secretion rates gave the same differences between patients and controls as just described for the jejunal fluid concentrations. Immunohistochemical studies of jejunal biopsy specimens from another group of patients with celiac disease demonstrated a prominent extracellular deposit of ECP in the lamina propria of the atrophic intestinal mucosa, whereas the release of neutrophil constituents (cathepsin G, MPO) was scarce. In Crohn's disease, an extracellular degranulation of ECP and, to a lesser extent, of cathepsin G was observed in relation to ulcerations only. CONCLUSION: Data obtained indicate that the local release of neutrophil and eosinophil granule components is enhanced in the jejunal tissue from patients with celiac sprue and Crohn's disease. The prominent extracellular deposit of eosinophil granule constituents with cytotoxic properties at the site of inflammatory intestinal lesions in celiac sprue might reflect a pathophysiologic mechanism.(ABSTRACT TRUNCATED AT 400 WORDS)

Adolescent↗

PubMed2004

Subclinical celiac disease with cerebellar ataxia.

We report an unusual case of celiac disease with cerebellar ataxia. Gastrointestinal signs and malabsorption were not found in this patient. We suggested that celiac disease should be taken into consideration in differential diagnosis of patients with cerebellar ataxia with unknown etiology.

Adult↗

PubMedDate not supplied

The frequency of occurrence and clinical picture of celiac disease in the parents of children with the disease.

BACKGROUND: In view of the considerable changes that have taken place in the last 20 years in the clinical picture of celiac disease, epidemiological research is now underway to search for atypical forms, which are appearing with growing frequency; if not treated, they cause a deterioration in the quality of life of these patients. The goal of our research was to identify the frequency of occurrence of celiac disease among the parents of children with the disease and to analyze the clinical picture in these cases. MATERIAL AND METHODS: The research involved 254 persons (127 women, 127 men) ranging in age from 25 to 58 years. The subjects were pairs of parents of randomly selected children with celiac disease diagnosed in accordance with the ESPGHAN criteria in force at the time of diagnosis. The level of total IgA and antiendomysial antibodies in class IgA or IgG were measured in all subjects using the indirect immunofluorescence method. In all those patients with a positive test for the presence of IgAEmA who expressed their consent, a biopsy of the small intenstine was performed, with a histopathological evaluation of the bioptate according to the Shmerling Scale. RESULTS: The IgA level was normal in all subjects. The presence of IgAEmA was indicated in the serum of 5 subjects (2%): 3 men aged 39, 40 and 43, 2 women aged 41 and 43. The level of IgAEmA varied within the limits of +20 to +640 IF. In 4 of these subjects an endoscopic biopsy of the small intestine was performed, providing a basis for the diagnosis of level III/IV or level IV atrophy of the intestinal villi. The clinical symptoms found in the subjects prior to diagnosis were diverse: periodic loose stools (2 persons), short stature (3 men), abdominal pains (3 persons with concomitant inflammatory lesions in the stomach membrane or duodenum), sudden loss of body mass (1 case), hyperexcitability (1 case). One female subject did not report any significant complaints. CONCLUSIONS: Screening tests should be performed In the families of patients with celiac disease in the direction of enteropathy, even in a case when clinical symptoms are absent, weak, or atypical.

Adult↗

PubMed2006

Cognitive impairment and celiac disease.

OBJECTIVE: To characterize the clinical, radiological, and electrophysiological laboratory profiles and histological features of patients who developed cognitive impairment temporally associated with celiac disease. DESIGN: Case series. SETTING: Referral center. PATIENTS: Patients with the onset of progressive cognitive decline within 2 years of symptomatic onset or with a severe exacerbation of biopsy-proved adult celiac disease were identified from the Mayo Clinic medical records from January 1, 1970, to December 31, 2005. Patients were excluded if an alternate cause of their cognitive impairment was identified. RESULTS: Thirteen patients (5 women) were identified. The median age at cognitive impairment onset was 64 years (range, 45-79 years), which coincided with symptom onset or exacerbation of diarrhea, steatorrhea, and abdominal cramping in 5 patients. Amnesia, acalculia, confusion, and personality changes were the most common presenting features. The average initial Short Test of Mental Status score was 28 of a total of 38 (range, 18-34), which was in the moderately impaired range. The results of neuropsychological testing suggested a trend of a frontosubcortical pattern of impairment. Ten patients had ataxia, and 4 of them also had peripheral neuropathy. Magnetic resonance imaging of the head showed nonspecific T2 hyperintensities, and electroencephalography showed nonspecific diffuse slowing. Deficiencies in folate, vitamin B(12), vitamin E, or a combination were identified in 4 patients, yet supplementation did not improve their neurological symptoms. Three patients improved or stabilized cognitively with gluten withdrawal. A detailed histological analysis revealed nonspecific gliosis. CONCLUSIONS: A possible association exists between progressive cognitive impairment and celiac disease, given the temporal relationship and the relatively high frequency of ataxia and peripheral neuropathy, more commonly associated with celiac disease. Given the impact for potential treatment of similar cases, recognition of this possible association and additional studies are warranted.

Aged↗

PubMed1999

Lactase enzyme, detected immunohistochemically, is lost in active celiac disease, but unaffected by oats challenge.

OBJECTIVES: The loss of lactase activity that occurs in active celiac disease resolves on adherence to a gluten-free diet that excludes the cereals wheat, barley, rye, and oats. Recently, an immunohistochemical technique has been described to evaluate lactase expression in primary hypolactasia. We have adapted this method to study lactase activity in adult celiac patients and to assess its value as a diagnostic tool. In addition, given the results of two recent studies suggesting the safety of reintroducing oats cereal into the celiac diet, we have also evaluated the response of lactase expression to oats exposure. METHODS: Duodenal biopsies from 26 patients were stained for lactase expression using an indirect immunoperoxidase method. Eleven disease control patients had normal architecture and nine had features of active celiac disease. Ten patients, who had celiac disease in clinical and histological remission, underwent oats challenge for 12 wk. RESULTS: Confluent expression of lactase was observed in the 11 control patients with normal histology, whereas staining was absent in the nine patients with active celiac disease. All 10 patients with treated celiac disease had normal lactase expression after exposure to oats. CONCLUSIONS: The immunohistochemical technique used in this study provides an easy, reliable method of assessing lactase enzyme and confirms the value of this index as a marker of celiac disease activity. The results of two recent studies demonstrating the lack of oats toxicity in adult celiac patients have been further corroborated by our findings, which show the preservation of lactase enzyme after oats challenge.

Adult↗

PubMed1992

Serum primary bile acids in the course of celiac disease in children.

Serum concentrations of primary bile acids (BAs) were determined in the course of celiac disease and in healthy age-matched controls. Determinations of BAs were made by radioimmunoassays after an overnight fasting and for 4 h postprandially after intake of a standardized test meal. In untreated celiac disease presenting with subtotal villous atrophy, peak concentrations of primary BAs were significantly delayed and serum levels were significantly higher than in controls. Small but significant abnormalities persisted after a period of gluten-free diet despite a normalization of mucosal morphology. Slightly pathological standard liver function tests in five patients were related to increased fasting levels but not to the postprandial pattern of BAs, indicating that the observed abnormalities postprandially were not related to liver disease. Further studies simultaneously focusing on deconjugation mechanisms, absorption, and pool sizes of BAs are required to explain the postprandial BA pattern under the course of celiac disease.

Adolescent↗

PubMed1999

Comparative analysis of serologic screening tests for the initial diagnosis of celiac disease.

OBJECTIVE: To prospectively evaluate and compare the sensitivity, specificity, and positive and negative predictive values of serum antigliadin (AGA) and antiendomysium antibodies (EMA) in predicting the initial diagnosis of celiac disease. DESIGN: Sera were tested prospectively for IgA and IgG AGA by enzymed-linked immunosorbent assay and IgA EMA by immunofluorescence techniques on monkey esophagus and human umbilical cord sections in 95 pediatric patients referred for duodenal biopsies. PATIENTS: Ninety-five pediatric patients were referred for duodenal biopsies, with a clinical suspicion of celiac disease; 24 of those patients had celiac disease by criteria of the European Society for Pediatric Gastroenterology and Nutrition. SETTING: A pediatric gastroenterology clinic of a tertiary care pediatric university hospital. RESULTS: EMA testing on human umbilical cords was the most specific but was also the least sensitive. All the patients with biopsy-proven celiac disease were identified by either one or both serologic tests (100% combined sensitivity). The combination of AGA and EMA on monkey esophagus resulted in a negative predictive value of 100% accuracy. CONCLUSIONS: A combination of AGA and EMA tests resulted in 100% sensitivity and 100% negative predictive value, useful in selecting patients for duodenal biopsy.

Adolescent↗

PubMed2006

Lack of intestinal mucosal toxicity of Triticum monococcum in celiac disease patients.

OBJECTIVE: The treatment of celiac disease is based on lifelong withdrawal of foods containing gluten. Unfortunately, compliance with a gluten-free diet has proved poor in many patients (mainly due to its low palatability), emphasizing the need for cereal varieties that are not toxic for celiac patients. In evolutionary terms, Triticum monococcum is the oldest and most primitive cultivated wheat. The aim of this study was to evaluate the toxicity of T. monococcum on small intestinal mucosa, using an in vitro organ culture system. MATERIAL AND METHODS: Distal duodenum biopsies of 12 treated celiac patients and 17 control subjects were cultured for 24 h with T. aestivum (bread) gliadin (1 mg/ml) or with T. monococcum gliadin (1 mg/ml). Biopsies cultured with medium alone served as controls. Each biopsy was used for conventional histological examination and for immunohistochemical detection of CD3 + intraepithelial lymphocytes (IELs) and HLA-DR. Secreted cytokine protein interferon-gamma (IFN-gamma) was measured in the culture supernatant using an enzyme-linked immunoadsorbent assay. RESULTS: Significant morphological changes, HLA-DR overexpression in the crypt epithelium and an increased number of CD3 + IELs, found after bread gliadin exposure, were not observed in celiac biopsies cultured with T. monococcum gliadin. In contrast, with bread gliadin, there was no significant IFN-gamma response after culture with monococcum gliadin. Similarly, biopsies from normal controls did not respond to bread or monococcum gliadin stimulation. CONCLUSIONS: These data show a lack of toxicity of T. monococcum gliadin in an in vitro organ culture system, suggesting new dietary opportunities for celiac patients.

Adult↗

PubMed2004

Emerging concepts in celiac disease.

PURPOSE OF REVIEW: There has been an explosion in knowledge about celiac disease (CD) in the last decade based on the availability of serologic screening tests and the elucidation of some of the important disease susceptibility genes. What has been discovered is that CD is among the most common inherited diseases with a worldwide prevalence of almost 1% of the population. Also, there has been a tremendous expansion of the possible clinical presentations in patients with CD, many of them predominantly or even exclusively extraintestinal. Over the last year, both the North American Society of Pediatric Gastroenterology and Nutrition, and the NIH, through the mechanism of a consensus development conference held in May 2004, have published guidelines outlining the current state of knowledge and the areas where more research is needed. RECENT FINDINGS: This review will stress the most recent findings in CD in the areas of genetics, pathogenesis, epidemiology, screening and diagnosis, and natural history. It will stress the importance of HLA DQ2 and DQ8 as disease susceptibility genes, and the interaction of the environmental triggers (gliadins and glutenins) with these gene products to trigger the immunologic response in the gut that is responsible for the pattern of injury. Recent reports that stress the importance of screening high-risk groups (i.e. siblings of index cases and first degree relatives, patients with Type I diabetes, patients with Downs syndrome, patients with IgA deficiency) will be highlighted. The identification of the most sensitive and specific screening tests will be summarized with an explanation of special situations that affect the interpretation of these tests. Finally, the long-term morbidities associated with CD will be characterized supporting the case for early diagnosis and treatment. SUMMARY: The implications of these recent findings are of tremendous importance for both pediatricians and internists. Screening of high-risk groups, and of patients with the common symptoms of irritable bowel syndrome, iron deficiency anemia, unexplained arthritis, and even chronic elevations of aminotransferases is becoming the accepted standard of practice. Much research remains to be done to further refine our understanding of CD, and to devise more effective strategies for treatment, compliance, and prevention of long-term complications.

Adenocarcinoma↗

PubMed1987

[Antibodies against smooth muscle in the detection and follow-up of the celiac disease patient].

The presence of smooth muscle antibodies (SMA) as determined by indirect immunofluorescence was investigated in the serum of 40 patients, 36 out of which were children. Group I included patients having celiac disease (diagnosed by three biopsies). 7/7 (Group Ia) showed no SMA on gluten-free diet while antibodies were present after challenge. 4/6 (Group Ib) were positive also after challenge (these had not had previous determination). Group II was composed by patients presumed to have celiac disease for they had only one biopsy showing grade IV villous atrophy. 5 patients were of recent diagnosis (group IIa) and showed SMA. 4/5 (Group IIb) who admitted not to had been able to follow the gluten-free diet were also positive for SMA. 6/6 (Group IIc) patients on strict gluten-free diet and showing good clinical response had no detectable SMA. Group III included relatives of patients having celiac disease. 5/6 with SMA showed pathologic small bowel biopsies; only 1/4 with no SMA had mucosal alterations. It is concluded that the presence of serum SMA can be considered a useful marker in the follow-up of cases of celiac disease already diagnosed and to investigate presumed cases of such disease.

Autoantibodies↗

PubMed1999

Adult celiac disease: US signs.

PURPOSE: To examine whether distinct ultrasonographic (US) signs exist in patients with adult celiac disease. MATERIALS AND METHODS: In a partly retrospective study, abdominal sonograms were obtained in 11 patients with adult celiac disease. Fifty matched control subjects also were examined. After the patients had fasted overnight, they were examined with 2-4-MHz abdominal and high-frequency 5-10-MHz linear-array US transducers. RESULTS: The authors found several US pathologic signs in patients with untreated disease, including abnormal fluid-filled small intestine in all 11 patients, flaccid and moderately dilated small-bowel loops (2.5-3.5 cm) in eight, slight diffuse thickening of the small-bowel wall (3-5 mm) in seven, increased peristalsis of the small intestine in eight, enlarged mesenteric lymph nodes (anteroposterior diameter 5-10 mm) in nine, dilated caliber of the superior mesenteric artery or portal vein in seven, free fluid in the abdominal cavity in five, and increased echogenicity of the liver in six. None of these signs was present in the control group. CONCLUSION: There are several US signs associated with adult celiac disease. None of the signs identified is specific, but a combination of signs is characteristic and indicates suspicion of this disease in a high percentage of cases. US could help to avoid diagnostic delay, especially in patients who have atypical clinical presentations.

Adult↗

PubMed2001

In vivo gluten challenge in celiac disease.

In vivo gluten challenge has been used since the early 1950s to study the role of cereal fractions in celiac disease. While early studies relied on crude indicators of celiac toxicity, the advent of jejunal biopsy and sophisticated immunohistochemical techniques has allowed accurate studies to be performed. Studies to determine the nature of the cereal component that is toxic to patients with celiac disease have concentrated on wheat because of its nutritional importance. A number of in vitro studies indicated the presence of one or more celiac-activating epitopes with the N-terminus of the A-gliadin molecule. In vivo challenge with three synthetic peptides subsequently indicated the toxicity of a peptide corresponding to amino acids 31 to 49 of A-gliadin. In vivo gluten challenge is the gold standard for the assessment of celiac toxicity; however, jejunal biopsy is a relatively invasive procedure, thus, other methods have been investigated. Direct infusion of the rectum with gluten has been shown to result in an increase in mucosal intraepithelial lymphocytes, occurring only in celiac patients. This method has been used to study the celiac toxicity of gliadin subfractions. The in vitro technique of small intestinal biopsy organ culture is also a useful tool and appears to give the same results as in vivo challenge. The importance of tiny amounts of gliadin in the diet, such as that which occurs in wheat starch, has been studied by in vivo challenge; this technique has clarified the position of oats in the gluten-free diet. Several studies suggest that this cereal may be included in the diet of most adult celiac patients. Studies of the transport of gliadin across the enterocyte following ingestion or challenge suggest that gliadin may be metabolized by a different pathway in celiac disease. This could result in an abnormal presentation to the immune system, triggering a pathogenic rather than a tolerogenic response.

Adult↗

PubMed2005

Liver transplantation in a child with celiac disease.

Recently, an atypical form of celiac disease (CD) has been identified, in which gastrointestinal symptoms are less pronounced. Other organs can be more or less severely affected, and the disease might be unrecognized and undiagnosed. In some cases, hypertransaminasemia has been indicated as the first symptom of CD in infancy. A direct relationship between liver damage and glutensensitivity has been proven by the disappearance of biochemical signs and histological lesions of the liver after the initiation of the gluten-free diet. The present case report is of a 14-year-old girl affected by CD and severe hepatic failure who underwent a liver transplant. To our knowledge, this case is the first report of liver involvement related to CD which is so severe as to require a liver transplant in a child. Because most patients with CD remain undiagnosed, and, as observed in the present report, untreated CD with subclinical hepatic involvement can lead to more serious liver disease, a more aggressive diagnostic work-up for CD in the general population is warranted.

Adolescent↗

PubMed1992

Cerebral occipital calcifications in celiac disease.

Bilateral occipital calcifications, occurring in celiac disease, are factors coming under a particular cerebral syndrome, which also includes epilepsy, migraine-like headache, visual troubles and mental deterioration. They seem to arise from hypofolatemia following gluten-induced enteropathy.

Calcinosis↗

PubMedDate not supplied

Adult celiac disease and primary sclerosing cholangitis: two case reports.

The association of primary sclerosing cholangitis and celiac disease is uncommon. Herein, we report on 2 different cases which developed this association. Case 1 was a 59 year-old female who firstly complained of symptoms of cholestasis. The diagnosis of primary cholangitis was made on liver biopsy, and the endoscopic retrograde cholangiopancreatography (ERCP) showed narrowing and irregularity of the extra- and intrahepatic bile ducts. The results were positive for antiendomysial antibodies and the jejunal biopsy confirmed the coexistence of celiac disease, which was asymptomatic until that moment. The gluten-free diet ameliorated the index of cholestasis. Case 2 was an old man suffering from undiagnosed celiac disease for at least 5 years prior to admission at our Department. The diagnosis was based on the histological examination of a jejunal biopsy. The patient did not follow the gluten-free diet and was again admitted to our Department 6 years later with symptoms of cholestasis. The liver biopsy and ERCP confirmed the diagnosis of primary sclerosing cholangitis.

Adult↗