Expert Perspectives on the Management of Narcolepsy and Excessive Daytime Sleepiness - Episode 2
Chris Winter, MD, reflects on the challenges in reaching a differential diagnosis of narcolepsy given the number of diseases with similar presentations.
Chris Winter, MD:The differential diagnosis of narcolepsy is very interesting. Narcolepsy has been referred to as the “Great Pretender” because its symptoms often look like different diagnoses, and that’s especially true when you start to divide out the excessive sleepiness that patients with narcolepsy have. Then there are other symptoms, such as the hallucinations we mentioned, the cataplexy. Thus, if you just look at excessive daytime sleepiness and imagine a patient going to a doctor saying, “I’m tired all the time, I don’t wat get out of bed, I fall asleep at work, on weekends I ignore my friends, I ignore my hobbies, I ignore the things that I like to do. All I want do is spend time in bed sleeping.” You can imagine that a primary care provider might look at those symptoms and think, “Wow, you sound pretty depressed because it’s so difficult for you to really get out of bed and engage in life.” There certainly can be depressive elements to that, but what we’re really describing is a person with excessivesleepiness, so depression is high on that list. Individuals who are excessively sleepy often have tremendous difficulties with concentration and focus, so ADHD [attention-deficit/hyperactivity disorder] can jump in there as well, because people can have tremendous difficulty with attention.
Anxiety is another big one. Individuals who are excessively sleepy often rely on tools of anxiety to keep themselves awake. These individuals can sometimes look very busy and type A and engaged because their brain figures out very early that if they sit still, they’ll fall asleep, so they don’t sit still. Thus, those are sort of the differential diagnoses that are often confused with the sleepiness. When you start looking at the hallucinations that people have, when you look at the cataplexy, somebody when they’re laughing actually kind of falls over and can’t move for a short period. Now, we start getting into the confusion with seizures, confusion with syncopal events or passing out, psychiatric conversion disorders. He’s pretending to have a seizure. He’s pretending to pass out. Then the hallucinations, as we talked about, hearing things before you go to bed or seeing things could often be confused for a frank psychosis or a bipolar kind of disorder where individuals are very depressed or having manic episodes. When you talk to patients who finally get diagnosed with narcolepsy, they have often run through a tremendous gamut of misdiagnoses before they get the right one.
The misdiagnoses are good because they’re not addressing the right problem. The biggest impact I think is the delay. I think that the average individual with narcolepsy has waited somewhere between 10 and 15 years to get the proper diagnosis and the proper treatment between the first time they engage with the medical community and describe their problems to when they are actually solved. In fact, I talked to a patient one time who said, “You’re the 13th doctor that I’ve seen for my problem, and if you can’t figure out what’s wrong with me, I’m going to stop seeing doctors.” She said that her problem was that she melted every day, and what the melting was, was cataplexy. Thus, she was diagnosed with all kinds of problems. To me, the biggest problem is this wasted time or wasted opportunity. But even more kind of depressing and sad is an individual who may have gone to college but dropped out because of signs and symptoms of narcolepsy. They don’t drop out and in their mind think, “Well, I couldn’t handle college because I have narcolepsy and because of that I’m excessively sleepy.” They drop out because they feel like they’re not good at college, or they’re not smart, or they’re not capable of doing this work. And maybe they’re not, being untreated for their narcolepsy, but when you finally, 10 years or 15 years later treat them, there is this sort of realization that, “Wow, if somebody had figured out my problem when I was a junior in high school, rather than now, when I’m beyond my college years, my life could have been much easier, better, more fulfilled than it is now.”
I think the biggest issue with the misdiagnosis, outside of treatments that don’t work and medications that aren’t necessary, is the fact that this disorder greatly disrupts the quality of individuals’ lives. That in and of itself is really sad to me. I want people to lead their fullest lives, and this disorder prevents that from happening, I think.
Transcript edited for clarity.