Coeliac Disease - Disease Association Testing

30 Jul 2018 0 Comments 0 Trackbacks Jessica Harland

Coeliac disease is a T-cell-mediated chronic autoimmune disease which effects the absorption of nutrients in the small intestine due to surface inflammation. The symptoms are caused by disease-specific antibodies against endomysium or tissue transglutaminase, which inflict damage to the lining of the intestine upon ingestion of gluten. Commonly reported symptoms include stomach pain and cramping, nausea, ongoing fatigue, constipation, diarrhoea, weight loss, mouth ulcers and bloating.

Around 1 in 100 people has coeliac disease although this can be easily misdiagnosed for other GI problems. Early diagnosis is critical, as the intake of gluten can have destructive effects on the small intestine causing malabsorption, malnutrition, lactose intolerance which can cause health complications including osteoporosis, iron deficiency anemia, vitamin B12 deficiency and bowel cancer.

Coeliac susceptibility is associated with the DQA1*05:01- DQB1*02:01 (DQ2) and DQA1*03-DQB1*03:02 (DQ8) haplotype and is dominantly inherited. Additionally, DR3, DR7 and DR11 alleles can be used as genetic markers. Of patients with coeliac disease, 99.6% of those will carry DQ8 or DQ2 [1]. HLA-DQ genotyping can be useful in accompanying a clinical disease diagnosis and to evaluate the risk of disease in relatives of a patient.

To effectively treat coeliac disease a strict gluten-free diet must be followed, helping the intestines heal - which should lead to complete resolution of symptoms and decrease the risk of complications from long term malabsorption.

Click here to find out more about our SSP and SSO kits used for coeliac testing.

1. Karell K, et al. Hum Immunol 2003; Apr;64(4):469-77

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