Dee Rogers has a busy and stressful job at Vanderbilt University Medical Center. So it would be normal to be tired at the end of the work day. But in 2014 she began to notice that she didn’t feel rejuvenated even after a good night’s sleep or weekend’s rest.
On Saturday, she’d get up, eat breakfast, put in a load of laundry and have to go back to bed for a three- to four-hour nap. Filling up the dishwasher was exhausting. She had no social life because she was too tired to go out with friends. She often had to miss work, and took FMLA (Family and Medical Leave Act) to secure her job.
“For months, I didn’t have a life. Family members, who live seven streets down, would invite me to dinner. I couldn’t even do that.”
Rogers, who has rheumatoid arthritis (RA), associated her fatigue, headaches and some joint and muscle pain with RA. But her physician, Chad Boomershine, M.D., Ph.D., thought otherwise. Finally she was diagnosed with Chronic Fatigue Syndrome (CFS), a complex, debilitating, multisystem and frequently undiagnosed condition that affects between 1 million and 4 million in the United States and millions more worldwide. The disease, which is not associated with any underlying medical condition, has been called Myalgic Encephalomyelitis outside of the United States.
Its hallmark is persistent and profound fatigue where, on a bad day, simple tasks can put you back in bed.
“It’s crippling,” Rogers said. “You just want to go to sleep. All the time.”
Patients with CFS are often dismissed by peers and even by physicians who are unfamiliar with the disease.
“Their family often doesn’t understand; their co-workers don’t understand, and especially their bosses don’t understand,” Boomershine said. “It’s very frustrating for these patients. They can’t do what they want. They’re extremely limited in just doing their daily activities and things they enjoy doing. We’re not talking about your run-of-the-mill ‘I didn’t get enough sleep last night’ fatigue.” Boomershine estimates he treats about 500 CFS patients.
New diagnostic criteria and a new name CFS is so misunderstood and misdiagnosed that the Institute of Medicine (IOM), the health arm of the National Academy of Sciences, commissioned a report. The committee writing the 235-page report, “Beyond Myalgic Encephalomyelitis/Chronic Fatigue Syndrome; Redefining an Illness,” was chaired by Vanderbilt’s Ellen Wright Clayton, M.D., J.D., the Craig-Weaver Professor of Pediatrics and professor of Law at Vanderbilt University. Italo Biaggioni, M.D., professor of Medicine and Pharmacology, was a reviewer.
The committee was asked to define diagnostic criteria for CFS, to propose a new process for reevaluation of these criteria in the future, and to consider whether a new name for the disease is warranted. The committee pored over peer-reviewed literature on CFS and took into account input from hundreds of patients and their advocates and developed evidence-informed diagnostic criteria.
“This is a disease that’s been the subject of contention for decades,” Clayton said. “People think it’s made up; it’s all in the patient’s head; it can’t be distinguished from other things. Patients have felt like they are being dismissed by physicians. These people have a real disease, but it’s often not recognized or taken care of. The amount of research funds devoted to it is trivial compared to the magnitude of the problem.”
The committee’s findings (see sidebar on next page) resulted in changing the name of CFS to systemic exertion intolerance disease (SEID) and identifying at least one criteria that must be present for diagnosis: cognitive impairment or orthostatic intolerance. “These more focused diagnostic criteria will make it easier for clinicians to recognize and accurately diagnose these patients in a timelier manner,” the report read.
Ellen Wright Clayton, M.D., J.D., chaired the IOM committee tasked with defining diagnostic criteria for CFS and coming up with a new name. Photo by Susan Urmy.
“Our contention is this constellation of symptoms is pretty unique, and if they’re present, a diagnosis should be made,” Clayton said. “A point that is really important is that prior definitions have said this is a diagnosis of exclusion, as if there are many other disorders that have this constellation of symptoms or that if you have another disease (depression, diabetes or even fibromyalgia), you can’t have this. As a clinician, the idea that people can only have one thing is pretty dumb. You wouldn’t say that someone with diabetes can’t have a co-morbid condition like renal failure or hypertension or vascular disease or depression. We have to recognize that people can have co-morbidities.”
The committee’s work attracted some controversy because patients and investigators were worried that the patient testimonies wouldn’t be believed and felt the committee’s recommendations could possibly halt the small amount of research that is being done.
The committee held two open meetings where they heard testimony from patients and their advocates. “They were quite powerful,” Clayton said. And they allowed comments on the Internet—about 1,000—and took suggestions from the public about the new name. One patient said having CFS “feels like permanently having the flu, a hangover, and jet lag while being continually electrocuted.”
“We read them all. We heard many powerful stories about the impact of this disease and how it’s not getting adequate attention from physicians or the research community.”
The Trial and Error Approach to Treatment
CFS is more common in females and affects all racial and ethnic groups. It usually strikes people between the ages of 20 and 40, but it also occurs in teens. A CFS-like illness also has been identified in children younger than 12. The actual number of children and teens affected by CFS is unknown.
There are no FDA-approved treatments for CFS, Boomershine said. “It’s a big limitation for us as physicians. There’s a lot of trial and error involved in treating these patients.” He treated one patient for three years before finding a combination of medications that worked.
“Medications that work for one patient might not work for another. Some of the therapies we’d like to use, we can’t, because they’re off label and insurance won’t cover them because there’s no indication for chronic fatigue with the medicines,” he said.
Physicians often use antidepressant medications that increase adrenaline to help with the fatigue, and sometimes stimulant medications (Ritalin, Adderall, etc.) are used, but that creates another issue because the stimulant medications are controlled substances so prescriptions must be on paper, there are no refills and there are other logistical issues when prescribing.
Some patients improve when treated with non-stimulant wakefulness-promoting agents, such as Provigil and Nuvigil. However, these drugs are only indicated to treat sleep apnea, work shift syndrome and narcolepsy, and cost about $600 a month.
Improving the quality of a CFS patient’s sleep is important, Boomershine said.
“These patients have non restorative sleep. They can sleep for 12-15 hours and wake up just as tired as when they went to bed. It’s a much different problem than insomnia where you can’t fall asleep, but once you do, you sleep well.”
Another challenge is separating CFS from other issues that these patients deal with—many CFS patients have fibromyalgia and vice versa. Fibromyalgia is a syndrome that affects the muscles and soft tissue and its symptoms—chronic muscle pain, fatigue and sleep problems, mimic CFS.
Boomershine prescribed bupropion (Wellbutrin) for Dee Rogers, a medication used to treat both depression and attention deficit hyperactivity disorder, and it’s made all the difference.
“Within a week of starting on Wellbutrin, my fatigue was better. It gave me my life back,” she said. “My family was very concerned about me. I have a boyfriend now. I didn’t have the strength or the desire to have a social life of any kind before.”
Clayton said she’s proud of the work the committee did on the report and hopes that it helps the CFS patient population get the help they deserve.
“It’s a huge service to patients with this disorder,” she said. “We made a very powerful case that this is a serious, complex multi-system disorder with huge impact.”
But there’s much more work to be done, Clayton said.
“We’re very eager for clinicians to recognize this disorder, to make the diagnosis and at least refer to a specialist. We developed the name systemic exertion intolerance disease because it describes the symptoms required for a diagnosis,” she said. “Do we think that name will stand in perpetuity? Probably not. The history of medicine over the millennia is to change names as you learn more about disease. Look at cancer.
“Our sincere hope is if research is done and we understand more about the etiology, we can define subtypes. One thing we do know is that kids are different from adults—their triggers and manifestations are different. Orthostatic intolerance is much more common in kids. We don’t have the data now to define subtypes, but we sure hope the knowledge will advance. It’s critical.”
Clayton said that the IOM’s task was clear—to evaluate current criteria and define the disease, “to do what we were asked to do and no more. Do we feel what we have proposed is better than what is currently available? You betcha.”
The panel recommended the criteria be revisited in five years. “It’s my fervent hope that in five years we’re going to know so much more about this disease and that the next panel can refine this.”