CELIAC DISEASE

HLA-DQA1, HLA-DQB1

Description

Scientific Background

Celiac disease, also known as endemic sprue in adults, is an autoimmune disease caused by cereal protein that manifests itself in the small intestine. This results in lymphocytic infiltration and damage to the intestinal mucosa. The activation of B-lymphocytes leads to the formation of various celiac disease specific antibodies, which can be determined if celiac disease is suspected.

 

Celiac disease is one of the diseases most strongly associated with human leukocyte antigen (HLA). Nearly all celiac patients carry the HLA class II markers HLA-DQ2 and/or HLA-DQ8 and only these HLA molecules are able to present gliadin peptides (breakdown products of gluten) and trigger an immunological reaction. About 95% of patients are positive for HLA-DQ2 (DQB1*02, DQA1*05). Most of the remaining patients are carriers of HLA-DQ8 (DQB1*03:02, DQA1*03). The negative predictive value of the HLA determination is thus close to 100%. The positive predictive value, on the other hand, is very low, since about 40% of the European population possess these HLA characteristics. The European Society for Paediatric Gastroenterology, Hepatology and Nutrition (ESPGHAN) guidelines recommend the determination of HLA-DQ2 and -DQ8 in patients with an uncertain diagnosis due to unclear biopsy or antibody findings. HLA determination can be used to confirm disease in children with a strong clinical suspicion of celiac disease and high antibody titers if a small intestine biopsy is not performed. In asymptomatic persons with an increased risk of celiac disease, an HLA determination should be performed. If no HLA-DQ2 / DQ8 characteristics are detected, regular serological monitoring is not necessary.

 

References

Husby et al. 2012, JPGN 54:136 / Di Sabatino et al. 2009, Lancet 373:1480 / HLA in Health and Disease second ed. R. Lechler, A. Warrens Academic Press, London, 2000 / Sollid et al. 1989, J Exp Med 169:345 / Y.Ghodke et al. 2005, Eur J of Epid 20:475-488 / HLA and Disease Associations, J. L. Tiwari, P. I. Terasaki Springer-Verlag, New York, 1985

GENES

HLA-DQA1, HLA-DQB1

ASSOCIATED TESTS

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