WillisEkbom

Willis-Ekbom disease (WED), also known as Restless Legs Syndrome (RLS), is a neurological sensorimotor disorder characterized by an unpleasant urge to move the legs and sensations described as crawling, tingling, or aching that begin or worsen during rest and at night. Moving the legs provides temporary relief. The condition often disrupts sleep and can impair daytime function. WED can affect any age but is more common in adults and women. Prevalence estimates vary; approximately 2-3% meet diagnostic criteria, with up to 10% reporting milder symptoms.

Etiology and pathophysiology: The exact cause is unknown, but disturbed brain iron metabolism and dopaminergic system dysfunction are implicated. A genetic component is evident, with several familial cases and associated gene variants. Secondary forms occur with iron deficiency, pregnancy, kidney disease, diabetes, neuropathy, and certain medications.

Diagnosis: Diagnosis is clinical, based on history and the characteristic pattern of symptoms. Iron studies are commonly performed; ferritin level guides treatment. There is no definitive laboratory test for WED. Sleep studies are not required but may be used to evaluate comorbid sleep disorders.

Treatment: Goals are symptom relief and better sleep. Nonpharmacologic measures include regular sleep schedule, exercise, and avoiding caffeine or alcohol near bedtime. Iron therapy is indicated for iron deficiency or low ferritin; oral iron is preferred first-line, with intravenous iron for inadequate response or intolerance. Pharmacologic treatments include dopamine agonists (pramipexole, ropinirole), gabapentinoids (gabapentin, pregabalin), and rotigotine; in refractory cases, opioids or benzodiazepines may be used. Dopamine agonists can cause augmentation and impulse-control problems, so regular monitoring is advised.

History: The name honors Thomas Willis and Karl-Axel Ekbom, and the modern term Willis-Ekbom disease is used by some medical organizations to reflect its status as a sensorimotor syndrome. The term Restless Legs Syndrome remains widely used in medical literature.