Completed

January 2015 - August 2016

Developing a blood test to diagnose Behçet syndrome earlier

Research Details

  • Type of funding: Project Grant
  • Grant Holder: Dr Graham Wallace
  • Region: East of England
  • Institute: University of Cambridge
  • Priority: Early detection
  • Eye Category: Ocular inflammatory

Overview

Behçet syndrome is an inflammatory condition that can affect many organs in the body including the eye, brain, lung and skin. The most common sign of the condition is having ulcers in the mouth or genitals.

In the UK Behçet affects around 1000 people. As it is so rare many doctors do not recognise the symptoms and a patient can go for many years and visit many doctors before they get a diagnosis and correct therapy. There is also no current test for the condition. People are diagnosed based on the doctor’s judgement.

A recent report identified a possible blood test (‘supercell analysis’) that could tell between between patients, healthy controls and patients with another similar-looking eye disorder. In this project Dr Wallace and team aim to confirm that the test works in a larger group of patients.

They also want to find out whether the test is sensitive to things like how the severe the symptoms are or how people respond to treatment. If the test holds up, it will be fairly quick and straightforward to take into the clinic as the technology needed to do the test is a standard tool within any clinic. There may also be potential to develop this type of analysis to test for other conditions.

  • Scientific summary

    Can supercell analysis predict Behcet's disease?

    Behçet Disease (BD) is an inflammatory multisystem condition with no known aetiology. Diagnosis is based on clinical assessment and there is currently no laboratory test to aid the clinician. A recent report described the accurate prediction of BD from healthy controls and from patients with sarcoidosis utilising flow cytometry of peripheral blood lymphocytes and supercell statistics. Such analysis compares average marker expression on groups of cells (supercells) rather than on a single cell basis. The results showed as few as five markers could distinguish between patients with BD and patients with sarcoidosis.

    The number of patients used in this report were small and in the current project the team aims to validate these results, and analyse larger cohorts of patients with BD, sarcoidosis, and patients with idiopathic intermediate uveitis. Whether different manifestations of BD, or response to treatment, influence the analysis will also be assessed.

    Finally, several genetic polymorphisms have been associated with BD. Patients included in the study will be typed for selected polymorphisms to determine influence on supercell statistics. It is envisaged that when validated this statistical approach will provide a laboratory test for earlier diagnosis of BD, response to treatment and the potential for extending supercell analysis into other fields of ocular research and beyond.