Lynn Marie Trotti, MD, MSc, on Hypersomnia Management

Hypersomnia is a chronic neurological sleep disorder that affects between 1 in 3300 and 1 in 5000 people in the United States. At Sleep Medicine Trends 2019, Dr Lynn Marie Trotti spoke about measuring hypersomnia and what to do with those measurements.

Lynn Marie Trotti, MD, MSc, is an associate professor of neurology at Emory University in Atlanta, Georgia, and is the chair of the Hypersomnia Foundation.

NEUROLOGY CONSULTANT: How do you measure hypersomnia?

Lynn Marie Trotti: The term “hypersomnia” broadly means excessive daytime sleepiness, excessively long sleep durations, or both. Measurement of sleepiness usually requires a combination of self-reported measures and objective measures. The most commonly used self-reported measure of sleepiness is the Epworth Sleepiness Scale, a 0-to-24-point scale assessing the likelihood of dozing in common situations, where scores of 11 or higher generally indicate sleepiness. Objective measurement of sleepiness is primarily performed in the sleep lab in two ways: the Multiple Sleep Latency Test (MSLT) and the Maintenance of Wakefulness Test (MWT). The MSLT asks patients to repeatedly attempt to fall asleep during the day, based on the assumption that people who are sleepier will be better able to fall asleep on demand than people who are not sleepy. Conversely, the MWT asks patients to repeatedly try to remain awake, based on the assumption that people who are sleepier will have more trouble remaining awake. Measurement or estimation of sleep durations can be performed with sleep logs, actigraphy, or 24-hour in-lab sleep studies, although not all of these options are available in all practice settings.

NEURO CON: What are the diagnostic tools for idiopathic hypersomnia?

LMT: Idiopathic hypersomnia is one of several disorders of excessive daytime sleepiness. Individuals with idiopathic hypersomnia have excessive daytime sleepiness, normal or long sleep times, and, often, great difficulty waking up in the morning. It is diagnosed on the basis of a consistent clinical history, the absence of other causes of sleepiness, and objective measurement of hypersomnia. Currently, there are two main diagnostic tools for idiopathic hypersomnia: the in-laboratory sleep study and at-home actigraphy monitoring. Until recently, idiopathic hypersomnia was diagnosed solely based on in-lab testing, consisting of a nocturnal polysomnogram and a next-day MSLT. This pair of tests remains the cornerstone of objective evaluation of hypersomnia, both to make the diagnosis and to rule out other diagnoses (such as sleep apnea and narcolepsy without cataplexy). However, because the MSLT may be normal in people with a clinical picture of idiopathic hypersomnia, the newest guidelines allow confirmation of idiopathic hypersomnia via demonstrating an average of at least 660 minutes of estimated sleep per day, over at least 7 days, by actigraphy. Where available (ie, not in most of the United States), 24 hour in-lab sleep testing can be used to confirm more than 660 minutes of sleep.

NEURO CON: What do you do with hypersomnia measurements?

LMT: Measurements of hypersomnia are used both diagnostically and to guide patient care decisions. The average time to fall asleep on the MSLT is used to diagnose either idiopathic hypersomnia or narcolepsy. In both cases, the mean sleep latency must be less than 8 minutes; the two differ based on the number of nap opportunities that contain REM sleep. Other measures, including the Epworth Scale, are used to screen for excessive sleepiness and to follow response to treatment over time. The MWT is sometimes used in situations of public safety, such as trying to decide whether or not a treated patient is safe to drive; people who fall asleep quickly on MWT are more likely to demonstrate driving impairments.

NEURO CON: How does this affect the treatment of hypersomnia?

LMT: Our current tools have some limitations. Because there is no definitive biomarker for most of the hypersomnia symptoms, it can be difficult to ensure the proper diagnosis and, from there, the optimal treatment. It would also be very useful to have quick, inexpensive, objective measures of hypersomnia that could be followed in response to medication changes, to optimize therapy.

NEURO CON: Can you talk about a situation in which you had to manage a challenging patient? What did you do?

LMT: Many sleep specialists have encountered hypersomnia patients who are refractory to standard of care treatments, which seem to work well for only about two-thirds to three-fourths of these patients. One of my areas of research is developing novel treatment options for these refractory patients. We consider a variety of different off-label medications among people who are refractory to medications, including clarithromycin, flumazenil, and sodium oxybate, depending on the clinical situation.

NEURO CON: How does hypersomnia affect other health conditions?

LMT: The symptoms of hypersomnia—sleepiness, long sleep times, fatigue—can make it challenging to attend to other health conditions and to engage in healthy behaviors, such as exercise.

NEURO CON: What is the most common question you receive from your neurologist peers about hypersomnia? And how do you respond?

“What should I do about this patient? Modafinil and stimulants have not fixed the problem.” There is very limited information from randomized controlled trials or even clinical patient series to guide treatment of idiopathic hypersomnia patients, and there are no FDA-labelled treatments for idiopathic hypersomnia.

While many sleep specialists agree that modafinil/armodafinil are first-line therapies, and stimulants may be appropriate as second-line therapies, not all patients will tolerate or respond well to these medications. A number of other treatments may be reasonable at that point, based on their known effects in other disorders, their mechanisms of action, or limited information from studies of people with idiopathic hypersomnia. An individualized approach in close collaboration with the patient, weighing what is known and unknown about potential benefits and potential risks, is needed.

NEURO CON: What does this all mean for neurologists? What is the take-home message for them?

The science of idiopathic hypersomnia is quickly evolving. Our current measurement tools are helpful but do not tell the whole story, so some patients may have problematic sleepiness but relatively normal standard test results. Many patients respond well to first-line medications, but refractory patients are not uncommon and may require more trial and error testing of off-label medications with a sleep specialist.