High prevalence of silent celiac disease in preschool children screened with IgA/IgG antiendomysium antibodies.

BACKGROUND: Because of the different sensitivity and specificity of serologic tests, the search for silent celiac disease is usually performed with the combined or sequential use of several tests. Among these, the IgA-class endomysium antibody test has the highest specificity and positive predictive value, but it may overlook IgA-deficient patients. METHODS: To test a new one-step screening approach, serum samples from 427 apparently healthy, 3- to 6-year-old Hungarian children were investigated for IgA-class and IgG-class endomysium antibodies using monkey esophagus and human jejunum as substrates. RESULTS: Five new cases with flat mucosa were identified by strong endomysium antibody positivity and subsequent jejunal biopsy, yielding a celiac disease prevalence of 1:85. An additional child may have latent celiac disease (slight histologic changes at present). Two of the screening-detected celiac patients exhibited only IgG-class endomysium antibodies due to associated IgA-deficiency. Despite the young age of the screened population, antigliadin antibodies were positive in only three of the five celiac patients. CONCLUSIONS: Prevalence of celiac disease in the study population was much higher than expected on the basis of antigliadin antibody-based studies. The screening system used detected celiac cases in which there was IgA-deficiency and those in which there was not and also those negative for antigliadin antibodies. The findings suggest the importance of the primary testing of autoantibodies in future celiac disease screening policies.

Families with multiple cases of gluten-sensitive enteropathy.

UNLABELLED: Early detection of oligosymptomatic gluten-sensitive enteropathy (GSE) may contribute to the prevention of late complications, such as malignancy. Family members of known GSE patients are at higher risk of being affected. To evaluate the frequency and clinical significance of multiple occurrence, we routinely offered an antiendomysium antibody (EmA)-based non-invasive screening to affected families. Among 997 family members of 396 GSE patients, we identified 89 subjects with EmA positivity and/or severe jejunal villous atrophy. In 83 cases GSE has been verified, four patients refused the biopsy and two subjects are under further observation for latent celiac disease. Prevalence of GSE was 8.5% (80/943) among the first-degree relatives, with significantly higher values in the siblings (13.8%) and offsprings (12.0%) than in the parents (4.2%) of the probands (p < 0.001). In 55 families (13.9% of the families studied) two, in ten families (2.5%) three, in one family four and in one other family six members were affected. Combinations of the clinical presentations of index and screening-detected cases were highly variable, with a high percentage of silent and atypical forms in the relatives. GSE cases presenting both with and without dermatitis herpetiformis occurred in 15 families. Six GSE cases with atypical or mild dermatitis herpetiformis were detected in consequence of the screening. CONCLUSIONS: EmA-assisted family screening resulted in the detection of a clinically significant number of additional GSE patients.

Prospective significance of antiendomysium antibody positivity in subsequently verified celiac disease.

BACKGROUND: In order to assess their long-term predictability for the diagnosis of celiac disease, antiendomysium antibody results were compared with the outcome of the Interlaken diagnostic process. METHODS: Prospective gluten challenge was performed in 153 children with previously diagnosed flat small-intestine mucosa. In 90 patients (Group A), endomysium antibodies were initially positive, in seven (Group B) they were negative, and 56 patients (Group C) had no initial serological results. In IgA-deficient persons, IgG antibodies were also assayed, both by the immunofluorescent method. RESULTS: Histological relapse rates were 100% (90/90), 14.3% (1/7), and 76.8% (43/56), p < 0.001, in Groups A, B, and C, respectively. Each patient with relapse also exhibited endomysium antibody positivity during the challenge. Patients in whom celiac disease could be finally ruled out remained consistently endomysium-antibody negative. The celiac disease patient in Group B had severe secondary immunoglobulin deficiency at entry, which explained the initial negativity. Diagnosis based on antiendomysium antibody positivity and flat mucosa gave a higher applicability (92.8 vs. 50.3%) and reliability (relapse rate 100 vs. 89.6%) than the 1990 European Society of Paediatric Gastroenterology and Nutrition (ESPGAN) criteria among these patients. CONCLUSIONS: Endomysium antibody positivity at presentation has been found to be as useful as gluten challenge in the diagnosis of celiac disease, even in patients under the age of 2 years. Challenge is still advisable in patients with a flat small intestinal mucosa when antiendomysium antibody results are negative or have not been done, as among these patients significantly lower relapse rates were found.

Intrascrotal and testicular solid masses in childhood.

A retrospective study was performed between 1985 and 1994 on paediatric patients operated for asymptomatic intrascrotal or testicular palpable masses. Tumour was suspected in each case and it was surgically explored. Twenty-six children were affected, their age ranging between 9 days and 14 years. In 11 cases testicular torsion, in 4 epididymitis and in another 2 dystrophic calcification were found. Tumours, including rather rare alterations, were observed in only 9 children. The present results draw attention to the tumour-like occurrence of testicular torsions and other benign alterations of the scrotum.

Cholangiodysplastic pseudocirrhosis: light and electron microscopic examination.

The familial type of cholangiodysplastic pseudocirrhosis is presented. This chronic liver disease is caused by malformation of the intrahepatic bile ducts. The female infant was 5 months old when the diagnosis was established. The liver biopsy was studied by light and electron microscopy. Electron microscopic examination revealed active proliferation of ductual cells and progression of fibrogenesis, findings consistent with the rapid and fatal course of the disease. In the case presented an acute cholangitis occurred, but after healing the progression of the original process led to hepatic insufficiency. It is suggested that cholangiodysplastic pseudocirrhosis is a chronic, progressive liver disease the course of which might be hastened by the complication of cholangitis; the process itself causes liver cirrhosis without inflammation.