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PubMed1999

A reassessment of splenic hypofunction in celiac disease.

OBJECTIVES: Because there is controversy regarding the prevalence, familial occurrence, and possible factors inducing splenic hypofunction in celiac disease, we have reassessed them in a large series of untreated patients and their first-degree relatives. METHODS: Pitted red cell counting was used to measure splenic function and the effect that age at diagnosis has on it, while severity of intestinal lesions and nutritional status were estimated by multiple linear regression analysis. Moreover, serum tuftsin activity was assayed by measuring its ability to stimulate phagocytosis of opsonized Staphylococcus aureus. RESULTS: We found that 32.8% of untreated celiacs and none of their relatives had pitted red cell values in the range of splenic hypofunction (>4%). Only age at diagnosis, but not the other two covariates, was significantly associated with the degree of splenic hypofunction. Tuftsin activity was depressed in celiac disease and this reduction was significantly greater in hyposplenic patients. CONCLUSIONS: In celiac disease the prevalence of splenic hypofunction is lower than formerly believed. The duration of preexposure to gluten is a crucial factor for the prevalence and severity of this complication that does not affect celiac relatives. In celiac disease splenic hypofunction is accompanied by a reduced phagocyte activity linked to the decreased release of tuftsin.

Adult↗
PubMed1996

Diagnostic intervals for recognizing celiac disease.

The aim of this retrospective study was to determine the time intervals between the onset of symptoms and diagnosis of celiac disease on the basis of a questionnaire that was published in the journal of the German Celiac Society (Verbandszeitschrift der Deutschen Zöliakie-Gesellschaft). 408 adult patients in whom the diagnosis of celiac disease was made after the age of 15 responded to the questionnaire. The time interval between the onset of symptoms and diagnosis (total diagnostic interval) was 5.4 (median) and 10.1 +/- 12.3 (mean +/- SD) years, interval-1 (time interval between the onset of symptoms and the first visit to a doctor) was 0.4 (median) and 2.2 +/- 6.6 (mean +/- SD) years, and interval-2 (time interval between the first visit to a doctor and the diagnosis) was 3.9 (median) and 8.0 +/- 10.4 (mean +/- SD) years. The time intervals shortened only a little over the years. At all times, interval-2 was significantly longer than interval-1. There were no differences between female (n = 328) and male (n = 80) patients and between the age groups. Furthermore, none of the gastrointestinal and non-gastrointestinal symptoms had had a distinct influence on all diagnostic intervals and also the fact that other family members having the disease did not shorten any of the intervals. In summary, the diagnostic intervals for recognizing celiac disease are still unacceptably long. More public awareness work has to be done so that patients can recognize their symptoms and doctors especially can suspect celiac disease sooner and perform the necessary diagnostic procedures when patients present with suggestive symptoms.

Adolescent↗
PubMed2001

Endomysium antibodies in the diagnosis of celiac disease in short-statured children with no gastrointestinal symptoms.

BACKGROUND: Endomysium antibodies (EmAb) are strongly associated with untreated celiac disease and are suggested to be diagnostic. The aim of the present study was to assess the value of anti-EmAb for celiac disease screening in children with short stature. METHODS: In 84 children with height less than the third percentile for age, preliminary work-ups were made to find a cause for their short stature and then their serum was assayed for anti-EmAb by indirect immunofluorescence tests using monkey esophagus. RESULTS: Seven children were strongly positive for EmAb and all had positive histologic findings for celiac disease. CONCLUSIONS: Our results show that there is an association with occult celiac disease and idiopathic short stature and that the serum anti-EmAb test is useful in identifying such cases.

Adolescent↗
PubMed1999

Mesenteric lymph node cavitation: a rare hallmark of celiac disease.

The cavitation of mesenteric lymph nodes represents a rare complication of celiac disease (only 30 reported cases) whose pathogenesis remains to be clarified. We here report the case of a 67-year-old woman referred to us because of a malabsorption syndrome lasting for 2 years; massive lymph node enlargement and cavitation were detected by means of ultrasonography and a computed tomography scan. Celiac disease was definitely diagnosed by means of duodenal histology, and a laparotomy was performed to exclude an underlying T-cell lymphoma. The adoption of a gluten-free diet led to a rapid and dramatic improvement in the clinical and histologic picture and normalization of the size of the lymph nodes. Celiac disease should be considered in the differential diagnosis of all patients with mesenteric lymph node cavitation.

Aged↗
PubMed2004

Hemochromatosis gene mutations and iron metabolism in celiac disease.

BACKGROUND AND OBJECTIVES: Iron deficiency anemia is a common manifestation of celiac disease, which may be due to genetic and environmental factors. HFE mutations, frequent in Caucasian populations, can cause increased intestinal iron absorption and thus could protect against the development of iron deficiency. The aim of this study was to evaluate the prevalence of HFE mutations and their effect on iron metabolism in Italian celiac patients at diagnosis and after a gluten-free diet. DESIGN AND METHODS: C282Y and H63D mutations were assessed by polymerase chain reaction (PCR) and restriction enzyme digestion in 203 patients with celiac disease and in 206 controls. HLA alleles were determined by sequence-specific primers and PCR. Duodenal histology was graded using Marsh's classification, and iron parameters measured by standard techniques. RESULTS: The frequency of the C282Y mutation was similar in celiac patients and controls (0.034 vs. 0.031); comparable frequencies were detected also for the H63D allele (0.170 vs. 0.136 in celiac patients and controls, respectively). Neither of the two HFE mutations affected iron indices in celiac patients at diagnosis, whereas a significant inverse correlation was detected between hemoglobin or ferritin and severity of histological damage (Marsh 3C or 3B vs. 3A, p<0.05 for both parameters). After a gluten-free diet, a slight increase in hemoglobin levels was observed in C282Y carriers as compared to controls, but only in female patients (p=0.044). INTERPRETATION AND CONCLUSIONS: In Italian patients with untreated celiac disease, HFE mutations do not constitute a protective factor against the development of iron deficiency, which seems to be mainly determined by the severity of the intestinal lesions.

Adult↗
PubMed2001

Screening for celiac disease in children with recurrent abdominal pain.

BACKGROUND: The clinical presentation of celiac disease--a life-long gluten intolerance--may be characterized by chronic abdominal pain. The objective of this study was to determine if children with recurrent abdominal pain had a higher prevalence of antiendomysial antibodies (a serologic marker of celiac disease) compared with healthy children. METHODS: Children with recurrent abdominal pain and healthy control participants were recruited from the offices of community pediatricians. Serum samples were drawn and antiendomysial antibodies were measured in both groups. Demographic data included age, gender, height, and weight. RESULTS: A total of 200 children were recruited, of whom 173 (87%) had serum samples drawn. Of these, 92 were children with recurrent abdominal pain and 81 were control participants. Only 2 of the 173 samples (1.2%) were positive for antiendomysial antibody. The frequency of antiendomysial antibody positivity in children with recurrent abdominal pain was 1 in 92 (1%; 95% confidence interval, 0-6%) compared with 1 in 81 (1%; 95% confidence interval, 0-7%) in control participants. CONCLUSIONS: This community-based case-control study found no association between recurrent abdominal pain and the prevalence of antiendomysial antibody. Therefore, these data do not support screening for celiac disease in the child with classic recurrent abdominal pain in the primary care setting.

Abdominal Pain↗
PubMedDate not supplied

[Validity of antigliadin antibodies in the diagnosis of celiac disease].

Antibodies to gliadin, detected by immunofluorescence (IFL-AGA) and ELISA (ELISA-AGA), have been found in 68 of 71 (96%) sera from children with active celiac disease. AGA of IgA class were confined to celiac disease on normal diet and after gluten challenge, as all the antibodies, found in children on gluten free diet (40%) and in control gastroenterological diseases (20%), were of IgG class. Sera from 175 first-degree relatives of our celiacs were also screened for AGA. IFL-AGA were positive in 13 (7%) and ELISA-AGA in 27 cases (15%). Antibodies were of IgA class in 13 relatives (7%). A celiac's asymptomatic sister, selected for jejunal biopsy only on the basis of IgA AGA positivity, showed subtotal villous atrophy. Although AGA cannot replace jejunal biopsy in the diagnosis of celiac disease, they can be regarded as useful tools in the screening of gluten sensitive enteropathy. Moreover, as a positive IgA AGA test is closely related to the active phases of celiac disease, their research can be useful both to evaluate the effect of gluten free diet and to establish when a new biopsy is appropriate after gluten challenge.

Adolescent↗
PubMed2000

Normal growth velocity before diagnosis of celiac disease.

BACKGROUND: Clinical experience leads us to believe there may be patients with celiac disease who have not yet been treated, with a normal physical growth. METHODS: To evaluate height velocity of patients with confirmed celiac disease before their diagnosis and treatment, anthropometric measurements taken by the general pediatricians in charge of the primary care of the patients before they were sent to the authors' hospital were studied. Forty-two growth periods (available velocities) were measured at varying intervals (ranging from 6 to 27 months) in 23 patients aged 0.1 to 10.66 years were analyzed. RESULTS: All patients studied during the first semester of life (n = 5) showed normal growth velocity, and 6 of 10 patients showed normal growth velocity during the second semester of life. Ten of 12 patients between the ages of 1.0 and 1.99 years of age showed normal height velocity, and 7 of 9 patients aged 2.0 to 10.66 years showed normal height velocity. Normal height velocities were found not only during the first year of life, but also in children aged 1 to 8 years. CONCLUSIONS: Results should alert pediatricians and those in gastroenterology and growth clinics. In the latter case, norms for studying children who have short stature but are growing at a normal rate should not be a condition for excluding a child from screening for celiac disease.

Body Height↗
PubMed2001

[Celiac disease can be associated with severe neurological symptoms. Analysis of gliadin antibodies should be considered in suspected cases].

Celiac disease can be associated with a wide spectrum of neurological and psychiatric symptoms (cerebellar ataxia, neuromuscular manifestations, epilepsy, dementia), even in the absence of malabsorption or gastrointestinal symptoms. The case of a 72-year-old man with a rapidly progressive, lethal encephalopathy secondary to celiac disease is reported, together with a review of documented neurological symptoms in celiac disease. The aetiology of these neurological symptoms is unknown, although immunological mechanisms are suspected.

Aged↗
PubMed2001

Disappointing sensitivity of endoscopic markers for villous atrophy in a high-risk population: implications for celiac disease diagnosis during routine endoscopy.

OBJECTIVE: Endoscopic markers of duodenal villous atrophy (VA) can facilitate diagnosis of celiac disease during routine upper GI endoscopy. We studied their sensitivity for VA in a large series of patients undergoing GI endoscopy specifically for duodenal biopsy. Poor sensitivity in this setting would have significant and adverse implications for their performance during routine endoscopy. METHODS: All patients with VA on duodenal biopsy performed for positive serum endomysial antibody (EmA) and/or clinical features suggestive of celiac disease were included. The second part of duodenum was inspected carefully for endoscopic markers using videogastroscopes. RESULTS: Of 129 patients studied, 99 (77%) had at least one endoscopic markers. The most commonly seen marker were a mosaic pattern mucosa (68 patients, 53%) and scalloping of duodenal folds (74 patients, 57%). The prevalence of markers was significantly lower for partial VA (15 of 26 patients, 58%) than for subtotal or total VA (84 of 103 patients, 82%) (p < 0.02). CONCLUSIONS: Endoscopic markers have disappointing sensitivity even in a population at high risk of celiac disease, particularly for partial VA. Their performance may be even poorer in an unselected dyspeptic population. Although they may help improve diagnosis rates among patients with nonspecific dyspeptic symptoms, many patients, particularly those with milder enteropathy, will be missed. As celiac disease is an important cause of dyspepsia, consideration should be given to serological screening to further improve diagnosis rates, as few centers will have the resources to routinely biopsy all patients.

Adolescent↗
PubMed1996

Celiac disease: small-bowel enteroclysis findings in adult patients treated with a gluten-free diet.

PURPOSE: To correlate the radiologic, histopathologic, and clinical findings in patients with celiac disease after treatment with a glutenfree diet. MATERIALS AND METHODS: Pretreatment and follow-up enteroclysis radiographs from 15 adult patients with known celiac disease were reviewed. Diagnosis of celiac disease was made at adult age. Changes in small-bowel morphology were determined by comparing enteroclysis findings before and after treatment with a gluten-free diet and were correlated with histopathologic and clinical findings. RESULTS: Eight of 15 patients (group I) showed increased small-bowel abnormalities. All patients had increased symptoms, and all but one, whose condition had deteriorated, showed stable disease at biopsy. Group II patients (five of 15) showed improvement at follow-up enteroclysis. Biopsy findings showed improvement in small-bowel morphology in four patients and no change in one. Clinically, four patients showed improvement, and one had stable disease. Group III patients (two of 15) showed no change from initial to follow-up enteroclysis. Both showed partial atrophy, which was consistent with biopsy findings. In all patients, clinical symptoms correlated better with enteroclysis results (r = .48; P < .005) than they did with follow-up biopsy results (r = .18). True celiac disease-related malignancies and coexisting tumors occurred in 10 of 15 patients. CONCLUSION: Enteroclysis appears to be more reliable than does biopsy in evaluation of response to a gluten-free diet in adults with celiac disease.

Adult↗
PubMed2006

Celiac disease associated with nodular regenerative hyperplasia, pulmonary abnormalities, and IgA anticardiolipin antibodies.

The association of nodular regenerative hyperplasia with celiac disease is not as well established as it is with hepatopulmonary syndrome and portopulmonary hypertension. IgA anticardiolipin antibodies were reported recently in celiac patients with nodular regenerative hyperplasia. The subject of this study was the description of pulmonary abnormalities and IgA anticardiolipin antibodies in celiac patients with noncirrhotic portal hypertension. Five patients with portal hypertension were investigated to diagnose its etiology. Celiac disease was diagnosed by means of autoantibody reactivity and duodenal biopsies. Liver histology revealed nodular regenerative hyperplasia in four patients and suggested its presence in 1 case. Two cyanotic patients had severe hypoxemia with a confirmed diagnosis of hepatopulmonary syndrome. Another case exhibited features of hepatopulmonary syndrome with increased levels of arterial pulmonary pressure. The remaining 2 cases had slight abnormalities of arterial oxygenation. Three patients had reactivity to IgA anticardiolipin antibodies. The concomitance of celiac disease and nodular regenerative hyperplasia, two infrequent conditions, raises suspicion of there being a nonfortuitous coincidence. Pulmonary abnormalities, and especially hepatopulmonary syndrome, are described for the first time in association with celiac disease and nodular regenerative hyperplasia.

Adolescent↗
PubMed2001

Prediction of silent celiac disease at diagnosis of childhood type 1 diabetes by tissue transglutaminase autoantibodies and HLA.

AIMS: The aims were to estimate the diagnostic sensitivity and specificity of autoantibodies to tissue transglutaminase (IgA- and IgG-tTG), gliadin (AGA) and endomysium (EMA) in relation to human leukocyte antigen (HLA)-DQB1 alleles to identify silent celiac disease at diagnosis of type 1 diabetes. METHODS: IgA- and IgG-tTG were measured in radioligand binding assays in 165 type 1 diabetic patients. Data on HLA-DQB1 were available for 148 patients and on both AGA and EMA for 164 patients. For patients considered positive for AGA or EMA, or both, an intestinal biopsy was suggested. HLA-DQB1 typing was carried out by polymerase chain reaction and hybridization with allele specific probes. RESULTS: Three patients, left out from further study of antibodies, but not from HLA-DQB1 analysis, had treated celiac disease at diagnosis. Out of the other 162 type 1 diabetic patients tested, nine had IgA-tTG, six IgG-tTG, eight EMA, and 11 AGA. Biopsy was suggested for nine patients, of whom six showed villous atrophy, one did not and two refused to participate. Thus, silent celiac disease was probable in 8/162 and biopsy-verified in 6/162, where five patients were AGA-positive and six either EMA-, IgA-tTG- or IgG-tTG-positive. Of the 11 patients with celiac disease (three with treated and eight with silent celiac disease), 10 were HLA-DQB1-typed, of whom 65% (13/20) had the DQB1*02 allele, compared with 36% (100/276; p = 0.011) of those without celiac disease. IgA-tTG levels were higher in patients having either *02 or *0302 (0.6; -1.3-112.4 RU) compared with those not having these alleles (0.4; -0.7-3.4 RU; p = 0.023). CONCLUSION: IgA-tTG are HLA-DQB1*02-associated autoantibodies with high sensitivity and specificity for silent celiac disease at diagnosis of type 1 diabetes.

Journal Article↗
PubMed1981

Celiac disease or dermatitis herpetiformis in three patients with porphyria.

Celiac disease was diagnosed in one patient with variegate porphyria, and dermatitis herpetiformis in two patients, one with acute intermittent porphyria and the other with erythropoietic protoporphyria. The probability that celiac disease or dermatitis herpetiformis should occur in three patients with porphyria in Finland is less than 0.2%. Neither a consistent HLA pattern nor any other explanation can be offered for the association between these diseases.

Adult↗
PubMed1999

Autoimmune cholangitis in a patient with celiac disease: a case report and review of the literature.

Autoimmune cholangitis is a rare chronic cholestatic liver disease. We describe the case of a 65-year-old woman with celiac disease who presented to us with fever, jaundice and weight loss. Serum biochemical study showed marked increase in alkaline phosphatase and gammaGT levels. Antinuclear antibodies were positive, while antimitochondrial and anti-smooth-muscle antibodies were negative. Liver biopsy was compatible with primary autoimmune cholangitis. The patient was successfully treated with azathioprine and methylprednisolone. We describe here the uncommon association of autoimmune cholangitis with celiac disease and review the prevalence of liver diseases in patients with celiac disease.

Aged↗
PubMed1985

Fibrosarcoma in a girl with celiac disease and IgA deficiency.

A case of abdominal wall fibrosarcoma in a 17-year-old girl with celiac disease and IgA deficiency is described. Celiac disease was putatively diagnosed with intestinal biopsy at the age of 15 years when she came for hospital investigations because of IgA deficiency and recurrent respiratory infections. The tumor occurred at the age of 17 years during the gluten challenge performed for final diagnosis of celiac disease. Surgical excision, irradiation, and chemotherapy were initially successful. After 7 months, however, the tumor recurred. Reoperation and a new course of irradiation therapy coinciding with the reinstitution of a gluten-free diet proved to be effective in tumor eradication. Nine years after the cessation of cancer treatment she is well and has two healthy children.

Abdominal Muscles↗
PubMed1990

[Risk of malignancies in celiac disease--a retrospective study].

A review of 52 patients with celiac disease showed the development of malignant tumors in eight cases (15%). The following malignomas were diagnosed: one malignant lymphoma, one multiple myeloma, one rhabdomyosarcoma, one carcinoma of the uterus, one carcinoma of the sigmoid colon and three adenocarcinomas of the small bowel. Patients with tumors showed significantly lower hemoglobin, lower serum albumin, and higher sedimentation rates than patients without tumors. The possibility of underlying malignoma must always be considered in all patients with newly diagnosed coeliac disease and in patients where symptoms of a known celiac disease change without alteration of the prescribed diet.

Aged↗
PubMed2002

[Celiac disease and Bud-Chiari syndrome: an uncommon association].

Celiac disease can present great clinical heterogeneity. Its association with a series of intestinal and non-intestinal diseases, whether immunologically mediated or otherwise, presents a higher than normal frequency. We present a patient with celiac disease and Budd-Chiari syndrome of unknown cause. This association has previously been described only in isolated cases in northern Africa. The appearance of this case in Spain reveals that the coexistence of both processes in a single patient is unlikely to be due to environmental or geographical factors.

Adolescent↗