Demonstration of small-bowel mucosal damage has been the basis of celiac disease diagnosis, but the diagnostic approach is undergoing changes. The European Society for Pediatric Gastroenterology, Hepatology, and Nutrition recently stated that in a subgroup of children, high positive transglutaminase 2 antibody (TG2ab) values may be sufficient for the diagnosis. The utility of these new criteria was evaluated by applying the human red blood cell TG2 antibody test (RBC-TG2ab) to a large cohort of children and adults belonging to at-risk groups.RBC-TG2ab and endomysial antibodies (EmA) were measured in 3031 family members or other relatives of patients with celiac disease. The RBC-TG2ab values were classified as weak (20-29 U), moderate (30-99 U), and strong (≥100 U) positive. Seropositive subjects were further tested by human recombinant TG2ab (Hr-TG2ab) and for the presence of celiac disease-associated human leukocyte antigen-DQ alleles. Gastroscopy was recommended for all with positive RBC-TG2ab, EmA, or Hr-TG2ab, or weak positive RBC-TG2ab and symptoms.Strong positive RBC-TG2ab has good correlation with EmA and Hr-TG2ab and positivity of DQ2/8, and the diagnosis was established in 94% of both children and adults. In contrast, moderately positive (≥30 U) RBC-TG2ab showed poor correlation with the other tests, and celiac disease was diagnosed in 69% of children and 86% of adults. Most participants with weak positive RBC-TG2ab were negative for EmA and Hr-TG2ab.In accordance with the new European Society for Pediatric Gastroenterology, Hepatology, and Nutrition criteria, strong positive RBC-TG2ab showed good accuracy and excellent correlation with the other antibodies and celiac-type human leukocyte antigen. In contrast, low or moderately positive RBC-TG2ab values were of unsatisfactory prognostic value for a subsequent diagnosis.
Aim: The benefits of celiac disease (CD) screening are debatable and the compliance to gluten-free diet (GFD) in screen-detected patients is thought to be poor; we investigated the dietary compliance, quality of life (QoL), physical well-being and bone mineral density in screen-detected CD patients after long-term treatment. Methods: 53 consecutive screen-detected CD patients (both children and adults at the diagnosis of CD) were enrolled to follow-up study after median of 14 (range 5-21) years of commencement to GFD; screening was carried out because of family history of CD or associated autoimmune diseases. Dietary compliance was assessed by an interview, a 4-day food record and CD serology. QoL was evaluated by Psychological General Well-Being (PGWB), SF-36 and gastrointestinal symptoms by Gastrointestinal Symptom Rating Scale·questionnaires. The results were compared to those in 44 symptom-detected treated CD patients, non-CD controls and general population. Results: The long-term compliance to GFD did not differ significantly between screen-detected and symptom-detected CD patients, being good in 83% and 77% respectively. QoL was as good in screen-detected treated CD patients as in symptom-detected CD and nonceliac controls when measured by PGWB. Mean value of mental health in SF-36 was significantly better in screen-detected treated CD than in the general population; in other items there was a similar tendency. Screen-detected long-term treated CD patients had slightly less abdominal symptoms and better bone mineral density than symptom-detected treated CD patients (not significant). Summary: Long-term compliance to GFD in screen-detected CD patients was good. Despite evident dietary restrictions, the QoL was comparable to that of symptom-detected patients, and even to non-celiac controls or general population. Conclusions: In terms of QoL and compliance CD screening and early treatment seems to be conceivable in CD risk groups. These data can be applied when decisions about mass-screening of CD in general population are rationalized.
Dermatitis herpetiformis (DH) is an extraintestinal manifestation of coeliac disease. The burden of illness in untreated coeliac disease is known to be considerable, but corresponding evidence for DH is lacking. In this study the burden of DH was evaluated prospectively in 52 patients newly diagnosed with DH using a study questionnaire and a validated Psychological General Well-Being (PGWB) questionnaire. The PGWB scores were compared with those of 110 healthy controls. Quality of life was significantly (p < 0.001) lower among patients with DH at the time of diagnosis, but after 1 year on a gluten-free diet their quality of life was at same level as that of the controls. The presence of gastrointestinal symptoms was shown to significantly increase the burden of untreated DH. We conclude that there is a significant burden related to untreated, but not to treated, DH, and the burden is even greater among DH patients with gastrointestinal symptoms.
It is well known that coeliac disease may be associated with various neurological manifestations. We have had a high index of suspicion of coeliac disease during recent years in our neurological clinic. As a result 10 (7%) out of 144 of our new coeliac patients were detected because of neurological symptoms. The most common neurological manifestations were neuropathy, memory impairment and cerebellar ataxia. In these patient groups screening for coeliac disease with serological antibody tests helps to find patients who may suffer from this disease.
OBJECTIVE: Many autoimmune diseases occur concomitantly with celiac disease. We investigated prospectively the occurrence of celiac disease and small-bowel mucosal inflammation in patients with primary Sjögren's syndrome. METHODS: A total of 34 patients with primary Sjögren's syndrome and 28 controls underwent small bowel biopsy. Villous morphology, jejunal intraepithelial lymphocytes, and mucosal HLA-DR were evaluated and DQA and DQB alleles, serum antiendomysial, and antigliadin antibodies were examined. RESULTS: Five (14.7%) of 34 Sjögren's syndrome patients were found to have celiac disease. The density of jejunal intraepithelial γδ+ T cells was increased in all celiac and in four nonceliac patients. All celiac patients, 69% of nonceliac Sjögren's syndrome patients, and 11% of control subjects showed enhanced HLA-DR expression (p < 0.001). HLA DQ2 was present in 19 (56%) patients with Sjögren's syndrome, including all five with celiac disease. CONCLUSIONS: The findings show a close association between Sjögren's syndrome and celiac disease. Even among nonceliac patients with primary Sjögren's syndrome, an ongoing inflammation is often present in the small bowel mucosa.
Collin P, Reunala T, Rasmussen M, Kyrönpalo S, Pehkonen E, Laippala P, Mäki M. High incidence and prevalence of adult coeliac disease. Augmented diagnostic approach. Scand J Gastroenterol 1997; 32: 1129–1133.Background: The diagnosis of coeliac disease is easily overlooked as patients can present with mild or atypical symptoms, or the condition can even be clinically silent. Our aim was to detect coeliac disease patients with such atypical or no symptoms as well as those with typical features. Methods: The incidence of adult coeliac disease in Tampere was calculated from 1975 to 1994 and the prevalence as of 31 December 1994. Open-access endoscopy was available for general practitioners, and small-bowel biopsy was done routinely. Serologic screening was applied to patients with an increased risk of coeliac disease. Results: The incidence of coeliac disease increased tenfold, and the prevalence was 270 per 100, 000 inhabitants in 1994. Twenty per cent were found by serologic screening and 10% as a result of routine biopsy; 24% had dermatitis herpetiformis. Conclusions: Our diagnostic approach gave a coeliac prevalence similar to that found in population screening studies. One-third had silent coeliac disease.
