Misdiagnosed or Mislabeled: Is Fibromyalgia a Disease?

What defines a “disease?” At what point does a collection of symptoms and causes make the transition from “condition” to disease? Is it when a consensus forms around a concrete, observable, and repeatable set of biochemical and/or physiological processes and outcomes? Surely there is little doubt that diabetes or hypertension qualify as a disease under the standard paradigm. But what of the quite large range of complex chronic conditions for which there is no known cause (almost all autoimmune inflammatory diseases, for example)? How do patients, the medical community, and society decide what gets to be called a disease, and how does that process inform the ways in which we treat the patients who have the disease?

Today at the 2009 American College of Rheumatology/Association of Rheumatology Health Professionals, Anthony Russell, MD, and Leslie Crofford, MD, debated whether fibromyalgia is a true disease, and discussed the best way to approach patients who present with the characteristic symptoms.

Russell basically took the position that fibromyalgia does not rise to the level of discrete, measurable, observable disease, instead preferring to view it as a social disorder that is determined by societal, historical, and other factors and contexts. “Is fibromyalgia the cause of suffering or a term used to describe it, equivalent to chronic somataform disorder?’” he asked. He spent much of his allotted time discussing the phenomenon of how the label we attach to a disease or condition, and how our perception of that disease, changes over time. This mutability of language and perception, and the need that patients and clinicians have to give a name to the cause of illness or distress, what Russell referred to as pathoplasticity, has led to a whole host of loose collections of commonly experienced symptoms to be elevated to the status of disease.

Russell returned several times to the concept of memes and the important ways that our social context leads us to identify, characterize, and communicate about the causes of sickness, pain, and anguish. This can build up a kind of critical mass in our collective conscious and lead to the phenomenon Russell called “diagnosis of the month.” He pointed to sick building syndrome and multiple chemical sensitivity syndrome as other examples of this. We will go to great lengths, he said, to try to explain and put a name to medically unexplained symptoms.

Leslie Crofford, MD, began by asking the audience, “If fibromyalgia is ‘disease,’ what is the role of rheumatologists in the diagnosis and management of patients with fibromyalgia?” Crofford said that a disease is any abnormal condition that impairs bodily function and is associated with specific symptoms or signs. She asked, “Do you need to have a cause to have a disease?” and pointed to several chronic diseases with no known cause (including the aforementioned autoimmune inflammatory diseases). Other questions to consider as part of this slippery process of naming a disease: When does a patient have a disease that needs to be acknowledged? Who decides and why?

Crofford said that she thinks the debate over “disease or not” boils down to whether professionals can recognize a common set of symptoms and signs, whether patients with these symptoms have anything in common (genetic factors, triggering factors, psychologic changes), and whether patients benefit from understanding the nature of the symptoms and display a predictable response to rational treatment.

She said that, whatever their flaws, the ACR criteria for fibromyalgia identify a discrete group of patients, and that patients meeting ACR criteria for fibromyalgia exist on a spectrum regarding symptom domains, heavily weighted to psychological distress, coping issues. She also identified three key categories of information to consider:

Etiology: Genetic vulnerability factors for fibromyalgia are likely shared with depression, anxiety, and chronic regional pain syndromes. Trigger for fibromyalgia , both physical and psychological, can be identified. The physiology of central pain and biochemical alterations in the cerebrospinal fluid have been identified.

Treatment: Developing a treatment plan requires that the patient have a conceptual framework of their condition (the first step of which is being able to put a name to the cause of their affliction). Most patients seem to do better with non-pharmacologic treatments in which they can participate (the self-actualizing patient). Patients treated with pharmacologic interventions tend to do better when treatments address central rather than peripheral targets

Approach to patient: Although there is some concern that labeling patients with a disease makes them worse, there is no evidence supporting this.

In closing, she said clinicians should remember that whatever their position is in the disease/not a disease debate, they need to be aware that their patients have symptoms that adversely affect their quality of life and/or function, and they deserve thoughtful consideration. While acknowledging the abilities of primary care physicians and other healthcare professionals to treat patients with fibromyalgia, Crofford said the rheumatologists are uniquely trained and qualified to evaluate these patients, provide the best information, and devise the most effective treatment plan that meets the unique needs of each individual patient.