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Restless Legs Syndrome: Keys to Recognition and Treatment

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Restless Legs Syndrome: Keys to Recognition and Treatment REVIEW JAIME F. AVECILLAS, MD JOSEPH A. GOLISH, MD CARMEN GIANNINI, RN, BSN JOSÉ C. YATACO, MD Department of Pulmonary and Critical Department of Pulmonary and Critical Department of Pulmonary and Critical Care Department of Pulmonary and Critical Care Care Medicine, The Cleveland Clinic Care Medicine and Department of Medicine, The Cleveland Clinic Foundation Medicine, The Cleveland Clinic Foundation Foundation Neurology, The Cleveland Clinic Foundation Restless legs syndrome: Keys to recognition and treatment ■ ABSTRACT ESTLESS LEGS SYNDROME (RLS) is not a R new diagnosis: it was first described com- Restless legs syndrome (RLS) is a common and clinically prehensively 60 years ago.1 However, it con- significant motor disorder increasingly recognized by tinues to be underdiagnosed, underreported, physicians and the general public, yet still and undertreated. Effective therapies for this underdiagnosed, underreported, and undertreated. motor disorder are available, but a high index Effective therapies are available, but a high index of of suspicion is necessary to identify the condi- suspicion is required to make the diagnosis and start tion and start treatment in a timely fashion. treatment quickly. We now have enough data to support Evidence from clinical trials supports the the use of dopaminergic agents, benzodiazepines, use of dopaminergic agents, benzodiazepines, antiepileptics, and opioids in these patients. antiepileptics, and opioids in these patients. The clinician must be familiar with the benefits ■ KEY POINTS and risks of these therapies to be able to provide optimal treatment in patients with RLS. RLS is characterized by paresthesias, usually in the lower extremities. Patients often describe them as “achy” or ■ CLINICAL DEFINITION: “crawling” sensations. They develop at rest and are ACHY, CRAWLING PARESTHESIAS alleviated by movement. RLS is a movement disorder characterized by The frequency and severity of RLS symptoms vary from “achy” or “crawling” paresthesias, usually in the lower extremities.2 These sensations occasional and mild to nightly and severe and preventing develop at rest and are alleviated by move- sleep. ment. They are much worse in the evening or at night. The severity of the symptoms varies RLS is most often idiopathic, but it may also be widely; they may occur only occasionally, in a associated with iron deficiency, uremia, pregnancy, folate stressful situation, or they may be nightly and deficiency, diabetes mellitus, rheumatoid arthritis, severe.3 RLS is frequently accompanied by fibromyalgia, hypothyroidism, Parkinson disease, and disturbances in sleep.4 depression. ■ CAUSES ARE UNCLEAR Treat RLS when quality of life is significantly affected by insomnia or excessive daytime sleepiness. The pathophysiology of RLS is still unclear. Subcortical central nervous system dysfunc- tion, mainly via the dopaminergic pathway, has been suggested as the mechanism.5 However, recent radiologic and neuropatho- logic studies and studies of cerebrospinal fluid have shown that there is iron insufficiency in the brains of patients with RLS,6–8 with no CLEVELAND CLINIC JOURNAL OF MEDICINE VOLUME 72 • NUMBER 9 SEPTEMBER 2005 769 Downloaded from www.ccjm.org on October 2, 2021. For personal use only. All other uses require permission. RESTLESS LEGS SYNDROME AVECILLAS AND GOLISH neuropathologic changes in the dopaminergic with folate deficiency,28 diabetes mellitus,10,29 neurons.6 These findings neither rule out rheumatoid arthritis,30 fibromyalgia,31 hypo- involvement of dopaminergic pathways nor thyroidism,32 Parkinson disease,33 depres- contradict the pharmacologic data, but further sion,11,34 and lower self-reported mental health implicate the role of iron in RLS. scores.11,34 In addition, transient RLS can be induced by spinal anesthesia.35 ■ PREVALENCE ■ GREATER RECOGNITION NEEDED Estimates of the prevalence of RLS in the gen- eral population vary greatly and range Although recognition of RLS is key to useful between 3% and 19%,9–12 with a significant intervention, many health care providers female predominance.9,12,13 The symptoms of remain unaware of this condition. RLS is both RLS may begin in childhood or adulthood14; underreported and underdiagnosed, mainly however, prevalence increases significantly because patients do not seek medical atten- with age.9–12 The fact that many of the med- tion or their symptoms are incorrectly attrib- ical conditions that have been associated with uted to anxiety or stress. Moreover, few RLS the development of RLS (see below) are more patients who report leg symptoms to a doctor common in the elderly may explain this receive a satisfactory explanation.36 Greater increased prevalence. medical recognition of this disorder is needed Ethnic background is a major risk factor. in view of the availability of medical treat- Overall, 10% of whites suffer from it, with ments. rates higher (15%) in Northern Europeans and lower (7%) in Mediterranean groups. ■ DIAGNOSIS BASED ON HISTORY ALONE RLS is unusual (1%) in Asians and rare in blacks. Recommended diagnostic criteria The diagnosis of RLS is based mainly on the Heredity patient history and does not require a sleep Symptoms of Up to 92% of patients with RLS have a first- study. In May 2002, an RLS diagnosis and epi- RLS are often degree relative with the disorder.4,15,16 In demiology workshop at the National Institutes these patients, the family history sometimes of Health, in collaboration with the incorrectly suggests an autosomal-dominant mode of International RLS Study Group (IRLSSG), attributed to inheritance.16 A family history of RLS is more determined the following four criteria as common in patients with idiopathic RLS than essential for a diagnosis of RLS (TABLE 1): anxiety or in patients with RLS associated with peripher- • An urge to move the legs, usually accom- stress al neuropathy,17 and in early-onset RLS (age panied or caused by uncomfortable and 45 or earlier) than in late-onset RLS.4,18 A unpleasant sensations in the legs recent study reported that 83% of twin pairs • Unpleasant sensations that begin or wors- were concordant for RLS symptoms.19 en during periods of rest or inactivity, such Furthermore, genetic linkage studies have as lying or sitting mapped a susceptibility locus to chromosome • Unpleasant sensations that are partially or 12q in one French Canadian family with totally relieved by movement RLS,20 and to a locus in chromosome 14q in • Unpleasant sensations that are worse in the an Italian family with RLS.21 evening or at night than during the day, or that only occur in the evening or at night.3 ■ SECONDARY RLS All four of these criteria must be present to make the diagnosis. Most cases of RLS are idiopathic; however, sec- Supportive clinical features not essential ondary forms of the syndrome are closely asso- to the diagnosis of RLS but useful in resolving ciated with other medical disorders or condi- diagnostic uncertainty include family history, tions such as iron deficiency,22,23 uremia,2,24 response to treatment with dopaminergic pregnancy,25,26 and polyneuropathy.27 RLS has drugs, and periodic limb movements while also been less often reported in association awake or asleep.3 770 CLEVELAND CLINIC JOURNAL OF MEDICINE VOLUME 72 • NUMBER 9 SEPTEMBER 2005 Downloaded from www.ccjm.org on October 2, 2021. For personal use only. All other uses require permission. T ABLE 1 Criteria for the diagnosis of restless legs syndrome Essential (patient must have all four) An urge to move the legs, usually accompanied or caused by uncomfortable and unpleasant sensations in the legs Unpleasant sensations begin or worsen during periods of rest or inactivity Unpleasant sensations are partially or totally relieved by movement Unpleasant sensations are worse in the evening Supportive Positive family history Response to treatment with dopaminergics Presence of periodic limb movements How patients describe the sensations repetitive limb movements caused by contrac- Because the uncomfortable and unpleasant tions of the muscles that occur during sleep; sensations that manifest with RLS are not the they tend to be grouped into series, with a rea- same as usual sensory experiences, people sonably periodic pattern of one movement often have difficulty describing them.3 usually occurring every 20 to 40 seconds.3 Frequent descriptors include need to move, Studies have reported a prevalence of period- crawling, tingling, restlessness, ache, cramp, ic limb movements during sleep as high as pain, electric sensation, tension, itching, and 80% in RLS patients who underwent a sleep worms moving.3,15 Most patients describe the study (all-night polysomnography),16 with an sensation as deep-seated,15 typically bilateral additional 7.8% of patients being diagnosed and felt primarily in the lower legs, but often on a second test.16 Patients in the thighs and sometimes in the feet. The polysomnographic recording of peri- describe RLS odic limb movements during sleep may also Exacerbating factors, other features help confirm the diagnosis of RLS, and in fact sensations as Factors other than immobility that may exac- these movements are often present before the crawling, erbate the condition include cold, heat, person falls asleep. Since these “awake” move- fatigue, and stress.15 Arms are eventually ments are not scored by polysomnographic tingling, involved in 14% to 50% of cases.4,15,16,37 The technologists, the interpreting sleep physician itching, worms spread to the arms tends to correlate with a must pay careful attention
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