The prestigious Institute of Medicine recently issued a comprehensive report on the vexing condition long known as both "chronic disease syndrome" and "myalgic encephalomyelitis." The report, commissioned because of the frustrations engendered by the enigmatic condition for patients and providers alike, runs to 305 pages.
For our purposes here, just a few lines will do. First, the committee recommended that the condition be renamed to: systemic exertion intolerance disease. The functional reference, that people with the condition are generally intolerant of physical exertion, is important. More important, though, is that last word: disease.
The use of "disease" was clearly no accident, as it recurs in the opening paragraph of the summarized recommendations. That paragraph reads as follows:
The primary message of this report is that ME/CFS is a serious, chronic, complex, multisystem disease that frequently and dramatically limits the activities of affected patients. In its most severe form, this disease can consume the lives of those whom it afflicts. It is 'real.' It is not appropriate to dismiss these patients by saying, 'I am chronically fatigued, too.'
Not long after its release, the report was fodder for a poignant New York Times column in which the author, a professional science writer, reveals that she has suffered the condition for the past 16 years. Along with the revelation of some personal elements, the author cites the cynical reactions of physicians to the IOM report, published on Medscape, real estate in cyberspace where our clan gathers to get and share information (when I last checked, there 296 comments on this topic). The column conveys a clear impression of personal hurt, the echo of prior experience, and the apparently familiar addition of insult to injury. Ms. Rehmeyer concludes that a diagnostic test is needed urgently.
The IOM report also emphasizes the need for diagnostic advances, developing specific clinical criteria for the diagnosis in the interim. My principal conclusion differs: it's that we need a profession-wide reminder that the patient is the one with the disease, even when the disease has the misfortune of being a syndrome.
That line, "the patient is the one with the disease," is from The House of God, a famous, satirical novel about medical training. Published almost 40 years ago, it still resonates.
How could there possibly be need for a reminder that the patient is the one with the disease? Well, it can be hard to feel sorry for anyone but yourself when you are working 100 or more hours a week, and your beeper goes off at 3 a.m. just as you are untying your shoes and hoping for a nap. I am by no means proud to say so, but I recall fighting to remember the patient was the sick one under just those circumstances during my residency. I generally lost that battle while pulling myself back from the cusp of sleep in the on-call room, but had usually won it by the time I got to the ER and looked my new patient in the eyes.
For related reasons, I eventually went into integrative medicine, which I have practiced for the past 15 years. This is not the place for a defense of integrative medicine, or a detailed explanation of its potential merits and liabilities. I will simply say that I went that way because it places comparable emphasis on relief of symptoms we don't necessarily understand, as on treatment of "diseases" we do. Those missions need not be mutually exclusive, but all too often seem to be.
Essentially by definition, a "syndrome" is all about symptoms we don't understand. In contrast to a disease, a syndrome is a condition that has a recognizable cluster of characteristic symptoms (what the patient feels) and/or signs (what the doctor finds on examination or testing) -- but no known cause, no confirmatory test, and often, no certain approach to treatment. As an example, acute infection with Borrelia burgdorferi is Lyme disease; the symptoms that sometimes linger for years after treatment of Lyme disease constitute a syndrome.
The challenge of living with a syndrome confronts millions of Americans. Roughly 1 percent to 2 percent of the U.S. population, or some 4 million people, have fibromyalgia. Chronic fatigue syndrome affects approximately another million. As many as 50,000,000 of us have irritable bowel syndrome. Nearly 40,000,000 women have premenstrual syndrome. Interstitial cystitis plagues some 700,000 women, and nearly 28 million adults in the U.S. have a migraine headache syndrome.
If you are a member of the enormous population that suffers from one or more syndromes, you can get good medical care. But you may have to work extra hard to do so, and you, too, are apt to suffer the addition of insult to your injury along the way.
Because a disease has a cause that is known to one degree or another, it is often verifiable through diagnostic testing, such as blood tests or X-rays. Syndromes often must be diagnosed on the basis of symptoms and signs alone, in the absence of any characteristic laboratory test findings. They are often called "diagnoses of exclusion," meaning a syndrome is diagnosed when testing rules out everything else. To some extent then, the diagnosis of a "syndrome" leaves room for doubt.
Syndromes tend to be more variable than diseases, probably because the same pattern of symptoms and signs may derive from multiple causes. It is likely that in many cases what is currently diagnosed as one syndrome will someday, when we know more, actually turn into several related diseases. This has happened before. A variety of different types of arthritis that can now be diagnosed quite precisely as rheumatoid arthritis, or osteoarthritis, or Lupus arthritis, were once a syndrome of joint pain all lumped together under the title of "rheumatism."
But perhaps the most important difference of all between disease and syndrome is the legitimacy attached to them. The lack of confirmatory test results for a syndrome means that there is nothing to "clinch" the diagnosis. Because the causes of syndromes are unknown, treatment is often uncertain, too, and results often less than gratifying.
Doctors don't much care for conditions we don't understand well, can't treat effectively, and can't even confirm with a blood test. The frustration that results often translates into one of medicine's more common, and most regrettable missteps: blaming the victim. Patients with syndromes are often overtly, or at least covertly, blamed for their symptoms and engender an "it's all in his/her head" attitude in their doctor.
That the often truly impressive prowess of modern medicine is ill adapted to the misfortunes of the merely syndromic is not the truly grave problem here. The problem is the cynicism reflected in those comments on Medscape. The problem is failure to recall that the patient is the one with the disease, even when the disease is a syndrome.
The IOM clearly recognizes this, and has lent its imprimatur to the legitimacy of systemic exertion intolerance disease. The report will likely accelerate the quest for objective diagnostic tests, and effective therapies. Those with the condition will certainly benefit from such advances.
But there are many other syndromes out there, and millions of others suffering the conjunction of insult to injury. They, too, would benefit from diagnostic tests and better treatments. But there is another benefit they are missing and need. It requires no IOM report, nor Nobel Prize. It requires only compassion, and humility. It requires only the acknowledgement that it's not the patient's fault their symptoms have not yet found an abnormal scan or blood test to call their own, the recollection that the patient is the one with the disease, even when the disease is "just" a syndrome.
It is the benefit of the doubt.
Director, Yale University Prevention Research Center; Griffin Hospital
President, American College of Lifestyle Medicine
Founder, The GLiMMER Initiative
Editor-in-Chief, Childhood Obesity
Author: Disease Proof