Improving the diagnosis of coeliac disease

Project aims

This project will investigate the best testing strategy for identifying adults and children with coeliac disease, that is both cost-effective and acceptable to patients.

We want to establish who should be tested for coeliac disease, what tests should be offered, and whether a biopsy is necessary for all patients.

Our project has five parts, to:

1. Review existing studies on tests for coeliac disease, to work out the most accurate combination of tests
2. Review existing studies to see what symptoms, or other factors, such as family history, having anaemia or type 1 diabetes, mean someone is at higher risk. This will help identify who should be offered testing
3. Analyse routinely collected data to look at how symptoms, signs, and other factors work together to predict who is likely to have coeliac disease
4. Work with patients to identify how confident they want to be in their diagnosis before starting a gluten free diet. This will help us work out what testing strategies are best
5. Use economic models, bringing together evidence from the other four parts of the study, to find out which tests for which people are most cost-efficient

What we did

In the first part of the project, we searched for studies on coeliac disease testing. The team reviewed and analysed the results from 191 studies, identifying 26 signs, symptoms and risk factors to focus on.

What we found and what this means

We found strong evidence that people with family history of coeliac disease, dermatitis herpetiformis (a skin condition caused by a reaction to gluten ingestion), anaemia, type 1 diabetes, migraines, HLA DQ2/8 risk genotype, osteoporosis, or chronic liver disease are more than twice as likely to have coeliac disease than the general population. Additionally, close relatives of people with coeliac disease are three times as likely to have it themselves. These signs and symptoms could therefore help identify patients who would benefit from testing.

Migraine and chronic liver disease are not yet included as a risk factor in all guidelines. We suggest it may be appropriate for these to be added to guidelines.

Other signs including gastrointestinal symptoms (such as diarrhoea, constipation and abdominal pain), psoriasis, epilepsy, inflammatory bowel disease, systemic lupus erythematosus, fractures, type 2 diabetes and multiple sclerosis were not shown to be reliable indicators of the disease.

What next?

We expect the results of this study to change the way patients with coeliac disease are identified in the UK.

The new testing strategy developed through this work has the potential to increase the number of people being diagnosed, speed up the process of diagnosis and improve patient outcomes.