Researchers from King’s College London are trying to develop an effective strategy to diagnose fibromyalgia by comparing the DNA of twins in which one has the disease and the other one does not.

Fibromyalgia is a pain syndrome that leads to widespread bone and muscle pain, fatigue and sleep disturbances. Its causes are not clear yet, making is very hard to diagnose, manage and treat. For many years doctors were not convinced on the existence of the disease, thinking it could be something conceived by the patient. Currently, there are no blood tests, x-rays or scans that can actually confirm this pain syndrome; however, some blood tests are used to rule out other conditions.

Using an Arthritis Research UK fund of £171,000, investigators from King’s College London, are developing a reliable blood test that can support a proper diagnosis. The team will assess samples from 400 twin volunteers (using the Twins UK Bioresource that enrolled 13,000 twins in which one has chronic widespread pain) in the hopes they can identify DNA biomarkers related to the condition. The goal is to compare healthy and affected twin’s DNA to understand fundamental genetic differences.

“Currently there is no blood test for fibromyalgia which makes diagnosis difficult and treatment is limited, and in many cases unsatisfactory,” said lead researcher Frances Williams,from the Department of Twin Research & Genetic Epidemiology.

“Our research will help patients in two ways. First it will contribute to our understanding of how fibromyalgia – and other chronic pain syndromes such as irritable bowel syndrome – develop – and point to pain pathways, which we may not have suspected. Secondly, we hope it will lead to identification of a biomarker which we could work into a blood test. As well as enabling the condition to be diagnosed more effectively, it could help to ‘stratify’ patients into groups depending on disease severity, which will help in clinical trials of potential new treatments. It might even help us predict how the condition will progress,” he added.

This study aims to identify markers localized outside the DNA that cause some genes to be switched on and off. The mechanisms associated with DNA ‘switching’ is a key factor as it prevents wrong processes from occurring at the wrong moment within the body.

The Arthritis Research UK’s representative, Natalie Carter, noted: “Fibromyalgia is notoriously difficult to diagnose and treat, partly because we know so little about why it occurs and how it progresses. Being able to diagnose it would be a major step forward, and understanding more about the influence of genetics will allow us to develop treatments specifically for people with fibromyalgia in the future.”