Red Flags for early referral of people with symptoms suggestive of narcolepsy: a report from a national multidisciplinary panel

Abstract

ObjectiveNarcolepsy is a lifelong disease, manifesting with excessive daytime sleepiness and cataplexy, arising between childhood and young adulthood. The diagnosis is typically made after a long delay that burdens the disease severity. The aim of the project, promoted by the “Associazione Italiana Narcolettici e Ipersonni” is to develop Red Flags to detect symptoms for early referral, targeting non-sleep medicine specialists, general practitioners, and pediatricians.Materials and methodsA multidisciplinary panel, including patients, public institutions, and representatives of national scientific societies of specialties possibly involved in the diagnostic process of suspected narcolepsy, was convened. The project was accomplished in three phases. Phase 1: Sleep experts shaped clinical pictures of narcolepsy in pediatric and adult patients. On the basis of these pictures, Red Flags were drafted. Phase 2: Representatives of the scientific societies and patients filled in a form to identify barriers to the diagnosis of narcolepsy. Phase 3: The panel produced suggestions for the implementation of Red Flags.ResultsRed Flags were produced representing three clinical pictures of narcolepsy in pediatric patients ((1) usual sleep symptoms, (2) unusual sleep symptoms, (3) endocrinological signs) and two in adult patients ((1) usual sleep symptoms, (2) unusual sleep symptoms). Inadequate knowledge of symptoms at onset by medical doctors turned out to be the main reported barrier to diagnosis.ConclusionsThis report will hopefully enhance knowledge and awareness of narcolepsy among non-specialists in sleep medicine in order to reduce the diagnostic delay that burdens patients in Italy. Similar initiatives could be promoted across Europe.Electronic supplementary materialThe online version of this article (10.1007/s10072-018-3666-x) contains supplementary material, which is available to authorized users.

Recognizing the Symptom Spectrum of Narcolepsy to Improve Timely Diagnosis: A Narrative Review

“…In Italy, a trend toward a shorter diagnostic delay was shown since the initiation of various media campaigns to increase awareness by the Italian patient association (Associazione Italiana Narcolettici e Ipersonni) since the year 2000. 32 …”

“…The need for (age-inappropriate) naps may return. 32 EDS can easily be overlooked or mislabeled as laziness or inattention or lead to a misdiagnosis of behavioral conditions such as Attention Deficit Hyperactivity Disorder (ADHD). 33 …”

Protocols of a diagnostic study and a randomized controlled non-inferiority trial comparing televisits vs standard in-person outpatient visits for narcolepsy diagnosis and care: TElemedicine for NARcolepsy (TENAR)

“…This is paramount for people suffering from narcolepsy, especially for the youngest ones. Delayed diagnosis, misdiagnoses, and multiple referrals before receiving a proper diagnosis are frequent in narcolepsy [31] and have negative consequences for untreated patients, their family and the healthcare system. Indeed, the diagnostic gap aggravates the psychosocial and economic burden of the disease [3,31], while a prompt diagnosis of narcolepsy at a young age seems to reduce the future socio-economic burden of the disease [5].…”

Orgasmolepsy in Narcolepsy Type 1 Responsive to Pitolisant: A Case Report

“…1,2 Often unrecognized and diagnosed late, narcolepsy is a rare disorder with an estimated prevalence of 20-50/100.000. 3 The diagnosis of NT1 is suspected on the basis of patient medical history and confirmed by night polysomnography (PSG) followed by multiple sleep latency test (MSLT) and/or hypocretin-1 deficiency (≤110 pg/mL) in the cerebrospinal fluid (CSF). Additionally, the human leukocyte antigen (HLA) class II HLA-DQB1*0602 allele is found in the 98% of patients with NT1.…”

“…1 , 2 Often unrecognized and diagnosed late, narcolepsy is a rare disorder with an estimated prevalence of 20–50/100.000. 3 …”