The serological diagnosis of coeliac disease - a step forward

Abstract

The development of highly performing serological tests to identify patients with coeliac disease (CD), allowed large scale screening studies to be carried out and the results transformed our understanding of the prevalence of the condition in the general population. The next logical step was to ask whether CD could be reliably diagnosed by these tests without the need for small intestinal biopsies. This was shown to be the case. Studies from Derby, UK, indicated that about half of adult patients can be diagnosed in this way and similar figures have been provided for children. When considering this approach, it is essential that laboratories only use highly performing test kits that they have validated to measure tissue transglutaminase antibodies because all kits do not function to the same high standard. There remains a place for biopsy when criteria for serological diagnosis are not met, if the diagnosis of CD is strongly suspected but serological tests are negative or in patients not showing the expected responses to gluten free diet or otherwise causing concern, when not only small bowel biopsy will be indicated but also other investigations. Those with refractory CD should not be compromised by this diagnostic strategy. As serological tests become more refined and information accumulates, it is likely that this mode of diagnosis will gather momentum for the benefit of patients and carers. This brief review looks at the evidence for making the diagnosis of CD in some cases by serological tests alone.

Keywords: Celiac disease; Diagnosis; Serology; Tissue transglutaminase.

Figure 1

The celiac iceberg. For each patient with celiac disease diagnosed on clinical grounds there are many others that remain undiagnosed, shown by the submerged of the iceberg, because of an atypical presentation, lack of symptoms or the potential stage of the disease.