Coeliac sprue (CS, coeliac disease, gluten-sensitive enteropathy) is a lifelong genetically conditioned autoimmune disease. It develops in genetically susceptible individuals (association with HLA-DQ2 and HLA-DQ8) after varying periods of consumption of gluten-containing cereals. The delivery of gliadin peptides (fraction of gluten) to HLA-DQ2- and HLA-DQ8-positive cells provokes an excessive immune response in the small intestine mucosa, mediated by T cells [1, 2].
At the same time, a high amount of highly specific antibodies (AtATG – antibodies against tissue transglutaminase) is being generated. Ultimately, reaction to gluten results in damage of the intestinal mucosa (mostly duodenal and jejunal) with a varying degree of atrophy and inflammatory mucosal changes (Fig. 21.1).
View of the duodenum in D2–3, with atrophic mucosa without villi, with a typical notched appearance
On average, the prevalence of celiac disease in the Western countries is supposed to be 1:100. It affects more women than men, with the male-to-female ratio of about 1:2. Coeliac disease has a strong hereditary component, with incomplete penetrance. The prevalence of the condition in first-degree relatives is approximately 8–18 %. Concordance in monozygotic twins approaches 70 %. The estimated frequency of coeliac disease in the Czech Republic is 1:200–250, i.e. there are about 40,000–50,000 affected individuals [1, 2].
21.3 Clinical Features
The symptoms and clinical features of coeliac disease largely vary, depending on the patient’s age. The course of the disease is also influenced by genetic dispositions, age, duration of gluten exposure and the extent and degree of morphological affection. Coeliac disease is no longer a rare condition affecting mostly small and preschool children and causing only diarrhoea, weight loss and anaemia. With the increasing age at the time of its onset, gastrointestinal symptoms become less intensive and atypical manifestations play a more important role. In adulthood, the disease is mostly detected between the 30th and 40th year of age, later diagnosis is less frequent. After the 60th year of age, coeliac disease is not considered at all, usually due to more frequent and urgent conditions to treat. Manifestation of coeliac disease may be triggered by a stressful situation (infection, surgery, long-term stress). The commonest symptoms observed in adulthood are minor gastrointestinal problems (flatulence, lack of appetite), fatigue syndrome and/or atypical extra-intestinal symptoms, including primarily development of osteoporosis not correlating with age, anaemia, and neurological and psychological disorders. Glossitis, aphthous stomatitis, muscle weakness, alopecia, infertility, amenorrhea and dermatitis herpetiformis occur less frequently.
Osteopenia and osteoporosis are among the most severe atypical manifestations of coeliac disease in adulthood and in the elderly. A total of 18–24 % of coeliac patients suffer from osteopenia; 34 % of postmenopausal female patients have osteoporosis in the lumbar region and 27 % of them in the region of the femoral neck. Bone metabolism is disturbed primarily by malabsorption of nutrients with a subsequent disorder of passive and active Ca transport, by lower levels of regulatory protein of vitamin D, growth hormone (GSF) and the insulin-like growth factor 1 (IGF-1).
Diagnosis of coeliac disease in adulthood is based on three factors:
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Serological markers – AtTGA (antibodies against tissue transglutaminase) with a sensitivity of 90–98 % and specificity of 95–97 %, EMA (antiendomysial antibodies) and AgA (antigliadin antibodies). Thanks to its high sensitivity, as well as for favourable cost and availability, AtTgA is the most suitable marker .
Biopsy of the small intestine mucosa – endoscopically obtained sample of the mucosa of the aboral duodenum. Macroscopically clearly visible atrophy of the duodenal mucosa with cobblestone and notched appearance of Kerckring folds (Fig. 21.1). Since recently, endoscopy may be facilitated by indigo carmine staining (Fig. 21.2) to accentuate mucosal atrophy or a typical white-light image in combination with water immersion to distinguish better between the normal and atrophic mucosa with absence of villi (Figs. 21.3 and 21.4). Microscopically, mucosal damage is evaluated according to the Marsh classification (stages 0–4), where stage 3 (destructive) is the most typical of coeliac disease [2, 4, 5].
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