Patients' Journeys to a Narcolepsy Diagnosis: A Physician Survey and Retrospective Chart Review

Abstract

Narcolepsy is a lifelong disorder with potentially debilitating symptoms. Obtaining an accurate diagnosis often requires multiple tests and physician visits. This report describes results from an online, quantitative, company-sponsored survey in which physicians provided information from the charts of their patients with narcolepsy. Neurologists, pulmonologists, psychiatrists, and other specialists who were board certified in sleep medicine; had 2 to 30 years of clinical experience; and treated ≥ 5 narcolepsy patients per month were invited to complete ≤ 6 surveys using charts of patients who were treated for narcolepsy in the last 6 months. Data from 252 patients were collected from 77 physicians. Patients were predominantly male (55%), white (67%), and had a median age of 38 years (range: 12-83 years). Referral to the respondent physician was common, mainly from primary care physicians. The most common initial symptoms were excessive daytime sleepiness (91%), trouble staying awake during the day (44%), and trouble concentrating/functioning during the day (43%). Overall, initial symptoms were of at least moderate severity in 85% of patients. Most patients completed overnight polysomnography (83%), a Multiple Sleep Latency Test (76%), and/or the Epworth Sleepiness Scale (62%). The median time from patient-reported symptom onset to diagnosis was 22 months (range: 0-126 months); at least half saw ≥ 2 providers before being diagnosed; and 60% of patients had previously been misdiagnosed with other disorders, including depression (31%), insomnia (18%), and/or obstructive sleep apnea (13%). In this study, the journey to a narcolepsy diagnosis required evaluation by multiple physicians and took nearly 2 years in 50% of patients, and > 5 years in 18%. These data highlight the need for increased awareness of the signs and symptoms of narcolepsy.

Frequencies and Associations of Narcolepsy-Related Symptoms: A Cross-Sectional Study

“…EDS is the most prevalent symptom of narcolepsy and can be observed in up to 91% of the patients. 3 In 40% of narcolepsy cases, EDS onset preceded cataplexy, and in 54% it was concomitant with cataplexy. 23 Cataplexy may occur in 60% to 90% of the narcoleptic patients and hypnagogic or hypnopompic hallucinations in 30% to 60%.…”

“…EDS is the most frequent symptom observed in narcoleptic patients. 3 In the natural history of EDS, several cardiometabolic and psychiatric conditions are associated with the incidence and persistence of EDS. 4 Patients with narcolepsy experience the symptoms over a long period until receiving the defi nitive diagnosis, ranging between 10 and 15 years.…”

Narcolepsia: o despertar para uma realidade subestimada

“…É também o sintoma mais prevalente na narcolepsia, ocorrendo em até 91% desses pacientes 17 . A ociosidade, a prática tão somente de atividades sedentárias em ambientes fechados, a temperatura ambiente elevada e uma refeição pesada são quatro fatores que caracteristicamente potencializam os irresistíveis e indesejados ataques de sono.…”

Update on Therapy for Narcolepsy

“…Symptoms of REM behavior disorder (RBD) may also be present in up to 36 % of narcolepsy patients, but are usually not a primary complaint, and RBD or REM without atonia (RWA) may more likely be recognized during polysomnography [11,12]. A recent study reported that, in addition to symptoms of the narcolepsy pentad, 42.9 % of patients complained of trouble functioning or concentrating during the day and that one quarter of patients (25.8 %) reported difficulties with activities of daily living [13].…”