When is celiac disease not celiac disease?
Petra Koňaříková1, Vladimír Kojecký2
+ Affiliation
Summary
Despite the high the prevalence of celiac disease in the European population (around 1%), this disease is often not diagnosed and in some cases the diagnosis takes place when the disease is in the advance stages. Diagnosing celiac disease is not always unequivocal and because it requires a lifelong gluten-free diet, it should be done in a sensible way. Diagnosing celiac disease is based on the conclusiveness of different serological markers and on the presence of a typical coeliac histology that responds to a gluten-free diet. In cases of typical disease progress, the diagnosis is usually clear. Doubts may arise when other diseases mimic the symptoms of celiac disease or when a non-standard or missing serological response occurs. Our case study describes a 30-year-old patient whose diagnosis of celiac disease could not be confirmed or refuted, even after several years of considerable effort. At the beginning of monitoring, the patient was diagnosed with celiac disease based on the presence of characteristic histological findings in a membrane biopsy of the duodenum (Marsh 3). Despite the patient maintaining a variable diet, the histological changes regressed but without loss of isolated positivity to endomysial antibodies. We therefore considered diseases other than celiac disease that might be responsible for the patient’s symptoms. Subsequently, lamblioza was confirmed in a secretion from the duodenum. Even after treatment, the patient was kept on gastroenterological dispenzarization and on a normal diet with working diagnosis of potential sprue.
Keywords
Giardia lamblia, coeliac disease, differential diagnosis, duodenitisTo read this article in full, please register for free on this website.
Benefits for subscribers
Benefits for logged users
Literature
2. Kohout P. Celiakie v ambulantní praxi. Medicína pro praxi 2007; 6: 250–252
3. Walker-Smith JA, Guandalini S, Schmitz J et al. Revised criteria for diagnosis of coeliac
disease. Report of Working Group of European Society of Paediatric Gastroenterology and Nutrition. Arch Dis Child 1990; 65(8): 909–911.
4. Kotalová R, Nevoral J, Šmídová J. Tkáňové protilátky v diagnostice celiakální
sprue. Čs Pediatr. 1996; 51(11): 680–687.
5. Clemente MG, Musu MP, Frau F et al. Antitissue transglutaminase antibodies outside celiac disease. J Pediatr Gastroenterol Nutr 2002; 34(1): 31–34.
6. Collin P, Kaukinen K, Vogelsang H et al. Antiendomysial and antihuman recombinant
tissue transglutaminase antibodies in the diagnosis of coeliac disease: a biopsy- proven European multicentre study. Eur J Gastroenterol Hepatol 2005; 17(1): 85–91.
7. Husby S, Koletzko S, Korponay-Szabó IR et al. European Society for Pediatric Gastroenterology, Hepatology, and Nutrition Guidelines for the diagnosis of coeliac disease, J Pediatr Gastroenterol Nutr 2012; 54(1): 136–160. doi: 10.1097/ MPG.0b013e31821a23d0.
8. Salmi TT, Collin P, Korponay-Szabó IR. Endomysial antibody‐negative coeliac disease:
clinical characteristics and intestinal autoantibody deposits. Gut 2006; 55(12):1746–1753. doi: 10.1136/ gut.2005.071514.
9. Volta U, Granito A, Parisi C et al. Deamidated gliadin peptide antibodies as a routine test for celiac disease: a prospective analysis. J Clin Gastroenterol 2010; 44(3): 186–190. doi: 10.1097/ MCG.0b013e3181c378f6.
10. Agardh D. Antibodies against synthetic deamidated gliadin peptides and tissue transglutaminase for the identification of childhood celiac disease. Clin Gastroenterol Hepatol 2007; 5(11): 1276– 1281.
11. Karell K, Louka AS, Moodie SJ et al. HLA types in celiac dinase patients not carrying the QA1*05-DQB1*02 (DQ2) heterodimer:results from the European genetics cluster on celiac disease. Hum Immunol 2003; 64(4): 469–477.
12. Polvi A, Eland C, Koskimies S et al. HLA DQ and DP in Finnish families with celiac disease. Eur J Immunogenet 1996; 23(3): 221–234.
13. Margaritte-Jeannin P, Babron MC, Bourgey M et al. HLA-DQ relative risks for coeliac disease in European populations: a study of the European genetics cluster on coeliac disease. Tissue
14. Heap GA, van Heel DA. Genetics and pathogenesis of coeliac disease. Semin Immunol 2009; 21(6): 346–354. doi: 10.1016/ j.smim.2009.04.001.