Miriam E. Tucker
A Complex and Poorly Understood Illness
Gary Solomon, MD, was performing a routine facelift in 2012 when his career-ending event occurred. "For about 10-15 seconds, I kind of spaced out and got lost. No one noticed. I came back to normal, finished the surgery, and quit that day. I realized that I was dangerous and couldn't work anymore."
Solomon, who was then chief of surgery and director of the Wound Healing Center at Long Beach Memorial Medical Center in California, had been ill on and off for about a decade. It all started in 2002, when he developed brachial plexus neuritis that presented with sudden acute shoulder pain and weakness in the upper extremities.
The viral infection resolved in a few months, but he then began experiencing other distressing symptoms: a severe upper respiratory infection that persisted for months, paresthesias, dizziness, gastrointestinal symptoms, and brain fog. He took some time off, but when he returned, he could often only work half-days or needed long breaks to lie down. "It seemed like all my body functions were failing me," says Solomon.
Research on his symptoms pointed him to a complex and poorly understood illness called "chronic fatigue syndrome," now known as "myalgic encephalomyelitis/chronic fatigue syndrome" (ME/CFS). But his neurologist didn't buy it. "He told me, 'We don't believe in this disease.' I thought that was weird, because I'm a pretty straight shooter, and he was somehow implying that I was crazy."
Other Patient Stories
Mark Vink, MD, was a practicing family physician in Amsterdam for 20 years—and before that, a Dutch national field hockey champion—before contracting pneumonia from a patient and then developing ME/CFS. He has been bedridden since 2005, as is 1 in 4 patients with ME/CFS.
"I don't have the muscular strength to sit, stand, or walk, and I suffer from hypersensitivity to light and sound. I spend my days in a dark and quiet room. I also suffer from muscle pain, cognitive dysfunction, et cetera," he says.
Dr X, an internist, had been practicing medicine for 5 years before she became ill. Her case was fairly typical. She'd been in excellent health before experiencing a series of nonspecific, infection-like events over several months. She'd often feel as if she were coming down with the flu, with such symptoms as sore throat, exhaustion, headache, and muscle and joint aches. She worked between episodes until she was no longer able to do so.
Dr Y's illness began before she entered medical school in 1994. Helped by a remission in 1997 that brought her energy levels to "about 80% of normal," she completed several specialty rotations, a residency in anesthesiology, and a fellowship in pain medicine. She accepted a position in another state and relocated with her husband. But, "When I finally started my new job, I knew at the end of day 1 that I could not do it. I had crashed. My remission was over."
Diagnosis Based on Symptoms
In 2015, the Institute of Medicine (IOM) published a landmark report intended to encourage physicians to diagnose ME/CFS and address patient symptoms to the best extent possible. The IOM defined ME/CFS as 6 months of unexplained fatigue with substantial functional impairment, postexertional malaise, unrefreshing sleep, and cognitive dysfunction or orthostatic intolerance. The symptoms must be moderate to severe and present at least 50% of the time. The report also proposed a new name for the condition, "systemic exertion intolerance disease," which has not been widely adopted.
The IOM clinician guide has not been broadly disseminated in the medical community, but that could soon change. This summer, the Centers for Disease Control and Prevention is expected to revise its information on ME/CFS for healthcare providers to incorporate the IOM diagnostic criteria. In addition, upcoming clinical guidelines are currently in development after an expert clinician summit held earlier this year.
For now, diagnosis is based on patient-reported symptoms because specific diagnostic biomarkers have yet to be identified, but research has been yielding clues.
Research Suggests Biomarkers
In 2015, Vink measured and found that his own blood lactate levels were significantly elevated after an exercise challenge that would be considered trivial for healthy people: walking 5-6 yards from his bed to the bathroom, using the toilet, washing his hands, and walking back to bed. Other studies of patients with ME/CFS have also demonstrated elevated lactate levels.
Vink's conclusion: "In severe ME, both the oxidative phosphorylation and the lactic acid excretion are impaired, and the combination of these two is responsible for the main characteristic of ME: the abnormally delayed muscle recovery after doing trivial things."
Notable recent findings in patients with ME/CFS include alterations in circulating cytokines and other immune markers, metabolic pathway abnormalities consistent with a hypometabolic syndrome, disturbances in fatty acid and lipid metabolism, and evidence of autoimmunity.
The fiscal year 2017 NIH funding of approximately $15 million for ME/CFS research was about double that of previous years, but ME/CFS advocates are now petitioning for much more.
Other research is supported by private funds. The End ME/CFS Project of the Open Medicine Foundation (OMF) is led by Stanford University geneticist Ronald W. Davis, PhD, whose adult son is incapacitated with ME/CFS. The OMF scientific advisory board includes three Nobel laureates.
On May 23, 2018, the OMF announced that it has funded $1.8 million for the establishment of a new ME/CFS Collaborative Research Center at the Harvard Medical School-affiliated hospitals.
Until these efforts bring answers, however, patients will continue to struggle to find physicians who are able to diagnose ME/CFS and help patients manage the illness.
Management and Self-care: Where Are They Now?
Today, Solomon runs a nonprofit website called Phoenix Rising, which supports people with ME/CFS. Once an avid skier, he now indulges only once in a while, with the full knowledge that he'll "crash" afterward for days or weeks—the hallmark postexertional malaise associated with ME/CFS. "I call it the price of admission," he says.
Dr X estimates that she is currently functioning at about 30% of where she was before her illness, with postexertional malaise her most disabling symptom. "If I try to exert myself beyond my limits cognitively or physically...I can become sicker immediately or a few hours later and remain sick for several hours or days," she says, noting that by "sicker," she means an exacerbation of all the same flulike symptoms she has had since she first became ill.
As do many patients, Dr X practices "pacing" by monitoring her activity and taking care not to exceed her own threshold for exertion. By doing so, "I still feel sick but am able to get some things done, such as shopping for groceries or reading an article. Most days, I stay home and have to be careful about outings, because they tend to take more energy."
Dr Y has been working part-time as a locum tenens since her remission ended 9 years ago. "The days I work are often long. I only allow myself to work 4 days in a row, and after the fourth, I crash hard. It takes me a week or two to recover."
She has told some of her colleagues about her illness, but "I don't think they really grasp how ill I am or how hard it is for me to work. I try very hard not to show it when I'm working."
What Physicians Should Know About ME/CFS
ME/CFS Is a Debilitating Disease
In retrospect, Solomon realized that his mother, who died of complications of Takayasu arteritis—a rare, systemic, inflammatory large-vessel vasculitis—probably also had ME/CFS. He also has a brother with the illness and another brother who died of multiple sclerosis. Solomon admits that before becoming ill himself, he thought that his mother and brother with ME/CFS were "rather histrionic."
He now advises his fellow physicians to listen to their patients and use their general medical knowledge to treat the symptoms. If a patient complains of dizziness, do an orthostatic test. Work with patients to address sleep problems. The disease has no cure, but physicians can validate patients so they don't feel like they're crazy or seek alternative care.
Asked what he would like other physicians to know about ME/CFS, Vink responded "...that this is a debilitating neuroimmune disease, which has got nothing to do with being tired."
Dr X says that in contrast to widespread misconception, "This is not a psychiatric or psychological illness that can be cured by positive thinking or mere deconditioning that can be cured by aerobic exercise." In fact, "incautious exercise or activity can harm patients."
She also points out that patients with ME/CFS are often too ill to leave home, so when they are able to keep medical appointments, it is because they are feeling relatively well and not at their worst.
"Don't judge ME/CFS patients as healthy merely by the way they look or act during a clinic appointment. When you see them...they might look fine or seem normal in their function. What you don't see is the preparation before their appointment [by avoiding prior exertion] and the postexertional symptoms after the visit. So consider asking your patients what happens before and after their visits."
Basic Laboratory Testing Doesn't Tell You Enough
Subsequent test results for Dr Y have revealed Bartonella infection, probable late-stage Lyme disease, mast cell activation syndrome, Lambert-Eaton myasthenic syndrome, and common variable immunodeficiency.
"Many of us have been taught that if the [laboratory results] are normal, the patient is fine. The problem is...our basic labs are...crude instruments. If it weren't for my anemia, if you did a basic [complete blood count] and [basic metabolic panel] on me, you might conclude that I was healthy," she says.
It wasn't until recent years, "as my immune system finally succumbed, that evidence showed up on a [comprehensive metabolic panel]: low protein and low globulin. You have to do much more sophisticated testing, and then all kinds of scary things [might] show up, such as profoundly depressed immune systems, inflammatory markers, and strange autoantibodies. On many patients, a tilt-table test will reveal [postural orthostatic tachycardia syndrome]. But none of this will be evident if you don't suspect and you don't look."
Dr Y doesn't know how much longer she will be able to practice medicine. "But for now, I refuse to let go because my profession gives me fulfillment. When I am working to ease others' pain, I can forget about mine for a little while."
The physicians quoted in this article have disclosed no relevant financial relationships.
Institute of Medicine of the National Academies. Beyond myalgic encephalomyelitis/chronic fatigue syndrome: redefining an illness. National Academies Press. Source Accessed June 5, 2018.
Vink M. The aerobic energy production and the lactic acid excretion are both impeded in myalgic encephalomyelitis/chronic fatigue syndrome. J Neurol Neurobiol. 2015;1. Source Accessed June 6, 2018.
Sotzny F, Blanco J, Capelli E, et al; European Network on ME/CFS (EUROMENE). Myalgic encephalomyelitis/chronic fatigue syndrome—evidence for an autoimmune disease. Autoimmun Rev. 2018;17:601-609.
Wadman M. NIH to double funding for chronic fatigue syndrome, but patient distrust remains. Science. November 10, 2016. Source Accessed June 6, 2018.