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Study targets possible genetic risk for fibromyalgia

Fibromyalgia is a chronic pain syndrome that is difficult to diagnose and treat. Fibromyalgia syndrome (FMS) affects millions of people in the United States.

Fibromyalgia is among the most common conditions treated by rheumatologists and physical medicine specialists. FMS is characterized by widespread muscle pain, sleep disturbance, fatigue and morning stiffness. The pain is often described as “migratory,” in that it tends to move around the body. This makes FMS especially difficult to diagnose.

The fact that there are no diagnostic tests physicians can rely on to confirm the diagnosis or follow the course of the condition simply adds to the challenge of diagnosing and treating FMS. In fact, for many years there was considerable disagreement among clinicians over the issue of whether fibromyalgia was even “real.”

Jonathan Reeser, M.D., Ph.D.

Principal Investigator Jonathan Reeser, M.D., Ph.D., has begun a research project designed to evaluate a possible genetic risk factor for fibromyalgia. Using data from the Personalized Medicine Research Project at Marshfield Clinic Research Foundation, the study will explore whether the prevalence of a gene called apolipoprotein E4 (APOE4) is higher in people with fibromyalgia than in people with no history of the disease. The APOE4 gene also is a marker for Alzheimer’s disease and cardiovascular disease.

Dr. Reeser decided to investigate the APOE4 gene because the gene has also been found to be associated with poor outcomes from head trauma. Although no specific genotype has been definitely associated with fibromyalgia so far, previous epidemiologic studies have suggested a distinct genetic component to the syndrome. Furthermore, increasing evidence suggests that fibromyalgia results from a defect in the processing of pain signals by the central nervous system, and APOE4 is thought to play an important role in central nervous system function.

The study is just getting under way. “The long-term goal of this research team is to identify clinically useful genetic and biochemical markers for the fibromyalgia syndrome,” Dr. Reeser said. Presently, FMS is a diagnosis of exclusion – meaning that other conditions that could result in similar symptoms must be ruled out before the diagnosis of fibromyalgia can be made with confidence. Consequently, patients often experience frustrating delays in arriving at an understanding of the cause of their perplexing list of symptoms. Prior studies demonstrate that women tend to be diagnosed with the syndrome more often than men (by a 9:1 ratio), but the reasons for this disparity are not entirely clear.

The treatment of fibromyalgia focuses on symptom management, and typically includes a combination of patient education and counseling, regular exercise and medication.

Dr. Reeser hopes that by “gaining a foothold” in the understanding of the genetics of FMS, this project may be able to pave the way for further research that will yield additional information that in turn may enhance our ability to care for people who suffer from fibromyalgia.

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