Published On Feb 14, 2017
Restless legs syndrome continues to puzzle, even with the recent publication of the first clinical guidelines for the disease.
Restless legs syndrome—a nighttime agitation of the limbs that can prevent sleep—was first described by a physician in the 17th century. By the 1800s, most of the medical establishment had dismissed it as a form of mental neurosis. Until recently, it was rarely treated, and mostly went by folk names such as “the Jimmy legs” or “the kicks.”
An international task force recently released the first treatment guidelines prepared for RLS by the American Academy of Neurology. The lead author, John W. Winkelman, has treated patients with RLS for the past 25 years. Now chief of the Sleep Disorders Clinical Research Program at Massachusetts General Hospital, Winkelman—who helped devise some of the condition’s first treatments with dopamine agonists—has been spreading the word about new research showing that such treatments can sometimes make the condition worse.
Q: What did early physicians think about RLS?
A: An English doctor and neuroanatomist, Sir Thomas Willis, first published a description of the disease in 1672. He characterized it as “leapings and contractions of the tendons” that made sleep impossible. By the 19th century, physicians called it anxietus tibiarum, and considered it to be a psychological condition.
Q: Why was there confusion?
A: Maybe because the symptoms are so subjective. Also, as the symptoms are usually not present until nighttime; when people see the doctor they are usually not symptomatic. The confusion with a psychological disorder may have come because RLS is more common in people with mood and anxiety disorders. But we know now that it may be sleeplessness, caused by RLS, that contributes to those psychological conditions. Data shows that if you don’t sleep well for a long time, your risk for mood and anxiety disorders substantially increases.
Q: When did recognition for the disease turn the corner?
A: In 1945 a Swedish physician, Karl-Axel Ekbom, outlined the set of physiological symptoms and named it “restless legs syndrome.” Then more research followed, which showed that roughly 2% of adults have this to a clinically significant degree. It also became clear that RLS was associated with low levels of iron in the brain; this discovery of a biological marker was critical to the condition gaining widespread recognition. Then in 2007, a few teams identified the genes that predisposed people to RLS.
Q: Then came medications?
A: Yes, the FDA approved two medications for RLS, one right after the other, and the drug companies did an aggressive disease awareness program with ads on television. There were later accusations that this constituted “disease mongering”—that somehow these ad campaigns had convinced people that they had RLS, even if they didn’t.
Q: What do you think about those accusations?
A: I do think drug companies could have been more careful. The number of people who needed treatment for the disease was probably less than the number who got prescriptions. If you get the symptoms only once a year, even if they’re bad, you certainly don’t need treatment every day.
But for an underdiagnosed disease, the attention was a good thing. People saw these ads and went to their doctors and said, I have this and it’s bothering me. That then forced physicians to learn something more about RLS. Engaged patients have always been a catalyst for change and awareness in medicine.
Q: What prompted the recent treatment AAN guidelines?
A: We know that dopamine agonists, one class of treatment, are extraordinarily effective in the short term. But in the long term, it turns out that they can make symptoms worse for about 50% of patients—who get worse attacks, more often. The phenomenon is called augmentation, and it may be permanent.
Some people develop this, and their treating physician, often a neurologist, just says, “Take more medication.” But that’s like pouring gasoline on the fire.
Q: And the guidelines speak to that?
A: The guidelines review all the ways that we know how to treat RLS. We wanted to raise awareness that RLS is very treatable, and that there are a number of medications that are effective. And we also wanted to raise awareness of this augmentation complication with one of those treatments, the dopamine agonists.
The new guidelines don’t cover guidelines for the treatment for augmented RLS. We don’t have enough data on that problem yet. But we’re finding that there are a number of potential medication options to get patients off the dopamine agonists if they have developed augmented RLS, and that there are non-pharmacological approaches that have promise as well. But this is an area that needs to be better systematically studied.