Researchers Find Cause of Fibromyalgia via Genetic Testing

Author : Kristen Thometz

Fibromyalgia affects up to 6 percent of the world’s population, yet little is known about the cause of the disorder, which is characterized by widespread pain and fatigue. University of Illinois at Chicago researchers now hope to uncover its origins through a new study analzying the DNA of fibromyalgia patients.

“The ultimate goal of the laboratory studies is to find the etiology – the exact cause, if you will. In others words, to really practice precision medicine and pinpoint the process that’s going on,” said Dr. Frederick Behm, who heads the department of pathology at the University of Illinois at Chicago and is involved with the study. Pinpointing the cause, however, will be difficult because it’s “a complicated disease process,” he said.

Symptoms of fibromyalgia include widespread pain that lasts for at least three months and affects both sides of a person’s body – above and below the waist – plus fatigue and cognitive difficulties commonly referred to as “fibro fog” that clouds a person’s ability to focus, pay attention and concentrate on mental tasks. People with fibromyalgia can also experience irritable bowel syndrome, migraines or tension headaches, and temporomandibular joint disorders (TMJ). Women are more likely than men to develop the disorder, according to the Mayo Clinic.

“In fibromyalgia there has been a many-decade effort to imply that the disease is an affliction of neurotic hypochondriacal, hysterical women and there’s nothing objectively wrong with them,” said Dr. Bruce Gillis, CEO of EpicGenetics, Inc., a biomedical company focused on improving the diagnosis and treatment of fibromyalgia.

Typically, fibromyalgia has been a diagnosis of exclusion, meaning patients were diagnosed with the disease after ruling out other diseases with similar symptoms, such as rheumatoid arthritis or lupus. “When all those tests are negative, then the doctor will take you aside … and say ‘Well, I can’t find out what’s wrong with you. I think you have fibromyalgia,’” Gillis said.

Although the causes are unclear, research suggests the disorder involves the nervous system and likely involves genetics. Gillis believes the immune system plays a role in fibromyalgia. Working with Behm, Gillis concluded that people with fibromyalgia have an abnormality in specific proteins in white blood cells that are critical to the body’s immune system.

“In patients with fibromyalgia, what’s happening is they lack the ability to produce normal quantities of these inflammatory proteins,” Gillis said. For fibromyalgia patients, “it’s like getting into a sword fight without a shield.”

In 2013, EpicGenetics, Inc. debuted its Food and Drug Administration-compliant diagnostic fibromyalgia test based on the results of a clinical study led by Behm at UIC. The FM/a Test is a blood test that diagnoses fibromyalgia by identifying the presence of specific white blood cell abnormalities.

Now researchers are recruiting up to 250,000 people who receive a positive fibromyalgia diagnosis via the FM/a Test to participate in a study aimed at discovering the origins of the disorder. Researchers are looking to see if there are specific fibromyalgia genetic markers and mutations, similar to the BRCA1 and BRCA1 mutations for breast cancer, Gillis said.

Behm will conduct the DNA sequencing of participants’ genes to see if there are commonalities among fibromyalgia patients. Researchers will also compare the DNA of people with fibromyalgia to the DNA of healthy individuals.

“I’m not looking at it as being the cause [of fibromyaglia] – it could be – but it could also be something that predisposes you to it,” Behm said. “We’re going to find something that is either a confounding factor of [fibromyalgia] or maybe a major contribution to this.”

Genomic sequencing will be conducted by the University of California, Los Angeles in addition to UIC. In future studies, researchers plan to analyze participants’ microbiomes, Behm said.

There is no cure for fibromyalgia and symptoms are usually treated with pain medicines, anti-depressants, muscle relaxants and sleep medicines. There are currently three FDA-approved drugs for fibromyalgia – Lyrica, Cymbalta and Savella – to manage pain.

Researchers are also offering patients who receive a positive fibromyalgia diagnosis via the FM/a Test to participate in a study that will test to see if a vaccine can change the biology of fibromyalgia. Gillis believes if given to a fibromyalgia patient, the Bacillus Calmette-Guerin (BCG) vaccine could correct the white blood cell abnormality observed in fibromyalgia and “reverse the biology.”

The vaccine trial will be conducted at Massachusetts General Hospital, which will occur concurrently with Behm’s study, once the study protocols have received the required institutional and regulatory approvals. Most medical insurance and Medicare cover the cost of The FM/a Test. EpicGenetics will work with patients to secure coverage, and is covering the laboratory costs for the genetic surveys and further research on the disease.


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