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In 1999, Dr. William Dement, the nation’s foremost sleep researcher, lamented that 15 to 20 million Americans with Restless Leg Syndrome had fallen into a major knowledge gap in the medical care system. Doctors simply didn’t recognize the symptoms, and, more importantly, didn’t understand the serious effects of restless legs on patients’ lives. Dr. Dement wanted to educate patients and their doctors, but sleep medicine didn’t attract much public attention. Then, in 2006, the pharmaceutical industry waded into the knowledge gap, launching an advertising campaign during the Superbowl for the first drug approved for the treatment of Restless Leg Syndrome, something most of the audience had never heard of. Advertising a disorder to market a drug is not the education Dr. Dement had in mind, but at least it generates interest and curiosity, the first steps toward knowledge.

“Syndrome” means a set of symptoms. Restless Leg Syndrome (RLS) encompasses creepy, crawly sensations in the legs (but occasionally in the trunk muscles or arms), occurring mainly in the evening, getting worse on retiring for the night, and relieved by motion, particularly walking. The best estimates are that 5-15% of the population recognizes these symptoms as their own. More men than women are affected and frequency increases with age. The cause is unknown, but recent research suggests that iron metabolism in a tiny part of the brainstem is at fault.

RLS is also known as “Ekbaum’s Syndrome,” after Karl Ekbaum, who first described the problem in 1940. Jerry Seinfeld’s script writers added “Jimmy Legs” to the RLS lexicon when they had Kramer moan about a girlfriend whose nocturnal leg movements made him crazy. Kramer was actually describing not RLS but the primary sleep disorder that often accompanies it: periodic leg movement disorder (PLMD). In contrast to restless legs, Jimmy Legs often bother bedmates more than they do the afflicted sleeper, who spends much of the night bicycling away with no memory at all of the movements or of the multiple awakenings that accompany them.

More than a sleep disorder

Because restless legs cause insomnia and sleep deprivation, RLS is technically a sleep disorder. However, the sufferer’s waking world is also fraught with difficult situations that demand stillness. Theaters, airplanes, dental chairs – even operating tables- can be intolerable. The course of action taken for relief depends on the frequency and severity of the symptoms, balanced against the risks and side effects of the treatments considered.

The mildest version of RLS occurs in otherwise normal people after extreme physical exertion such as running a marathon, and it responds to time, rest and energy replenishment. At the severe end of the RLS spectrum are people whose trouble falling asleep and disrupted nighttime sleep produce severe daytime sleepiness. They need accurate diagnosis and treatment, by sleep specialists if possible. Between the mild, intermittent end of the spectrum and the severe extreme are all the rest of the RLS sufferers, including some pregnant women. These people are best served by an ongoing relationship with a doctor who understands the syndrome and the complete approach to treatment.

Diagnosis and Treatment

Treatment begins with a good history and physical exam. Restless legs are sometimes symptoms of peripheral nerve or kidney problems, and occur in the setting of diabetes. They can also reflect side effects of drugs such as antidepressants, antihistamines, and anti-nausea medicines. Even in the absence of medical problems, a check of the serum iron is on order since long clinical experience and new research implicate iron metabolism. Iron deficiency should prompt a search for a cause – usually bleeding or dietary insufficiency. Medications to reduce stomach acid, now in widespread use, can also cause iron deficiency.

Assuming there are no underlying medical problems, the next step is the elimination of stimulants from the diet – particularly in the latter half of the day. That means caffeine, cigarettes and alcohol – as well as any over the counter medicines of the types mentioned above. Developing mental alerting strategies to occupy the mind during times of boredom may help. When focused and occupied with games or puzzles the brain seems to suppress restless impulses. Increasing daily physical activity quiets the legs in over 50% of RLS patients.

When sleep suffers and normal life situations such as long automobile rides are intolerable, pharmacologic intervention is often necessary. The drugs that appear to be helpful fall into four classes: the ones that increase the neurotransmitter dopamine or act like dopamine (dopamine agonists); narcotics like codeine; the benzodiazepines like Valium, and the anticonvulsant Gabapentin. All of these are serious drugs with potential side-effects, not the least of which is a phenomenon called augmentation – the worsening of symptoms over time producing the need for more drugs. But the drugs can be true life-savers for people who are severely afflicted and in desperate need of sustained sleep and the ability to remain still.

What of the new drug touted in Superbowl ads in 2006, and a more contenders released since then? They are dopamine agonists, some of which have been around for years – FDA-approved for use in Parkinson’s disease, but also used “off-label” by doctors dealing with RLS patients. Their marketing focuses a light on the obscure world of sleep medicine, where devoted researchers who followed Dr. Dement continue to educate patients and doctors about the troubled sleep that generates many accidents and eats away at productivity and emotional resilience. That is a service to all.

In ancient Greek, pneuma meant the breath of life and apnea meant the cessation of that breath. Pneuma in modern medicine is only a fragment of many words related to breathing but apnea has made the transition from the ancient lexicon unchanged. It means no breathing. Sleep apnea is a condition in which breathing halts over and over during sleep, sometimes hundreds of times a night. The resulting disruption of sleep and respiratory physiology triggers chronic health problems like high blood pressure, cardiovascular disease and strokes. Other negative results are psychosocial and accidental, stemming from chronic daytime sleepiness. Motor vehicle accidents are but one example.

My first exposure to someone with sleep apnea was during childhood, in my grandparents’ house, where visiting grandchildren were divvied up among the adult rooms for sleeping. My grandmother was a Camel smoker who read the New Jersey tabloids late into the night. I knew she was finally asleep when her snoring began, at first softly with a regular cadence, and then gradually increasing in volume and depth, building to a crescendo that would suddenly end…in silence. I tried holding my breath as long as she held hers, but seldom made it to the point when she would suddenly snort, inhale in a ragged fashion and then settle back into the snoring rhythm, building up to another period of no breathing. I gave up worrying about whether or not she would restart, because she always did. I wondered why my grandfather, a Lucky Strike smoker snoring away in an adjoining bedroom, breathed steadily, never stopping like she did.

The upper airway is the problem

While smoking can cause snoring, my grandmother stopped breathing intermittently because her upper airway was anatomically different from my grandfather’s and it became obstructed when the muscle relaxation caused by sleep made her throat go slack. In 1965, upper airway obstruction was finally discovered to be the cause of the marked daytime sleepiness that often affected obese people, whose airways collapsed under the excess neck fat when they lay down and fell asleep. Charles Dickens made this kind of hypersomnolence famous in the 1800s by his creation of the character Joe the Fat Boy in The Pickwick Papers.

Sleep research begins

The discovery of the cause of daytime sleepiness in obese people happened to coincide with the development of interest in and funding for research into sleep disorders. The first sleep lab was begun at Stanford University in 1964. Prior to that time not much was known about normal sleep, let alone disordered sleep. By the 1970s the hundreds of awakenings interrupting the sleep of people with upper airway obstruction had been demonstrated. Sleep cycles were continuously disrupted in these patients, and sleep apnea was on its way to being tagged as a common disorder with serious consequences in terms of morbidity and mortality.

Risk factors

Who suffers from sleep apnea? According to one estimate, approximately one quarter of people between 30 and 70. Despite the increased awareness of sleep apnea in the last few decades, experts also estimate that 70-80% of people who suffer from the condition remain undiagnosed. Men are about four times more likely than women to be affected. Obesity is the largest risk factor because increasing body fat encroaches on the upper airways. Smoking irritates sensitive tissues, making them swell and further narrowing the throat. In some people, the jaw shape and position are anatomical culprits. Sleeping medicines and alcohol consumption can also alter breathing patterns in sleep and contribute to sleep apnea.

Snoring is the first symptom

Not every snorer will develop sleep apnea, but snoring is the first phase of the condition. When the snoring becomes associated with breathing cessation, problems begin. Apnea causes an immediate fall in blood oxygen and a rise in carbon dioxide. Rising carbon dioxide triggers the respiratory drive center in the brain. The sleeper wakens in order to breathe, though he may not be aware of it. Multiple awakenings interfere with normal cycling through progressively deeper stages of sleep back up into lighter stages of dreaming sleep, cycles that are necessary for mental and physical health. Over time, lack of normal sleep cycles takes significant physical and mental tolls. Levels of inflammatory markers and hormones associated with stress rise; the vascular changes that lead to heart disease speed up; heart rhythms become erratic; blood pressure goes up and stroke risk rises. Profound daytime sleepiness results in attention deficits, errors of omission, motor vehicle accidents, mood disorders and memory problems.

Other clues

Might you suffer from sleep apnea? If people complain about your snoring, if you awaken with headaches and feeling unrested, if you are lacking in energy though not ill and if you cannot stay awake once you are not physically up and about – for instance when you sit down to read or watch TV, you might want to talk to your doctor about the possibility of sleep apnea, especially if you are also overweight.

Diagnosis

The definitive diagnostic test for sleep apnea is an overnight stay in a sleep lab, where polysomnography – multiple measures of physiologic function including electroencephalography or brain wave testing are monitored while the subject is sleeping. Treatment will depend on the severity of the findings. How many awakenings occur per hour? Are there associated heart rhythm or brain wave abnormalities during the apnea?

Treatment works

In mild cases, lifestyle treatments such as weight loss, cessation of smoking, alcohol and sleeping pills, and avoidance of sleeping on the back are all that will be advised. In other cases, the addition of a mask and device that pumps continuous positive air pressure (CPAP) into the upper airway is necessary. CPAP treatment is very effective, and improvements occur rapidly. Less commonly, mouthpieces to alter jaw position, or surgery to increase airway space are advised.

I never noticed daytime sleepiness in my grandmother. She weighed no more than 100 pounds and was an Irish whirlwind of housekeeping activity. Until she developed an autoimmune disease in her 70s, she was, to all appearances, healthy, despite the ever present cigarettes. Sleep apnea is a medical condition on a continuum, dependent not on just the upper airway obstruction component but on other aspects of the sufferer’s health. As with all physical problems, differences in disease severity reflect differences in the whole people in which the problems occur.

Posted by medical plaintalk

Posted by medical plaintalk