OSA, Narcolepsy, Dysautonomia. correct diagnosis?

[elegant_exotics]

Hello,
I am writing for my son who is 23, 170 lbs and was diagnosed with moderate sleep apnea about 4 years ago. He went off to college and had to come home after 3 years. Now, we are trying to get this resolved so he can go back and finish. Struggling and could really use some expertise.

His first sleep study showed significant degree of obstructive respirations using PES tube (naso-esophageal pressure transducer). He pulled -27 cm H20 with RDI of 13 episodes per hour during NREM and 25 during REM sleep. Oxygen Sat dropped to 88%. The MSLT was abnormal showing hypersomnolence but no REM sleep so no narcolepsy diagnosis. Setting ranged from 9 to 11 cm H20 on his CPAP - a ResMed EPR Elite II.

3 years of trying every mask and chin strap and with another PES sleep study to verify pressure, we finally gave up on CPAP and he moved to a TAP appliance. My son has very sensitive skin and tried his best to adjust. The TAP appliance has been a better fit for him.

Most recent sleep study with the TAP appliance IN showed obstructive respirations and possibly needing some treatment by adding CPAP (using TAP PAP contraption). His RDI dropped to 11 episodes per hour with -3 to -6 cm H20 and sometimes up to -20cm H20. Lowest Oxygen Sat dropped to 93% with 6 episodes through the night. Apnea Index 0.3 Central Apnea Index 0, Hypopnea Index 3.9 (making AHI 4.3).

So, the impression was that the TAP appliance reduced the number of obstructive events but that he still had too many effort based arousals (217 arousals in 7 hr night (Index of 33). Arousals mostly in spontaneous category then snoring then hypopnea) and that while he was getting good oxygen, the arousals are lifting him out of REM or deep sleep and causing sleep fragmentation.

Then an EKG finding showed a possible arrhythmia. Taking him to a cardiologist who felt that his HR variation were excessive and possibly CAUSING the arousals that were not associated with obstructive events (where the HR rises as a response to no air). His range was 30bpm to 196 bpm throughout the night. The cardiologist felt his HR should be more stable through the night. We will be trying a Holter monitor to see if that shows anything. Also, considering purchasing a pulse oximeter to help find a pattern.

His MSLT showed REM sleep during naps so now he was diagnosed with narcoplepsy without cataplexy. He has no other narcoleptic symptoms.

He is on Nuvigial 150mg in mornings and guanfacine 1mg at night. Previously, he tried Inderal 30mg at night to settle the HR down but that had no effect.

He tested positive for daytime HR variation (dyautonomia - specifically Postural Orthostatic Tachycardia Syndrome) but otherwise, he is healthy. He feels like dirt in the mornings and has bone-crushing fatigue even with TAP (which he has had since August 2012 and uses religously). He feels better with the TAP than without but that's not saying much. He feels 2% better but essentially the same as before the CPAP 4 years ago.

Questions:
1. Is HR variation of 30 to 196 bpm normal during sleep?
2. Is 217 arousals normal? or near normal?
3. What could be the reasons for his autonomic dysfunction at night - are the arousals due to erratic HR or due to a slight, unmeasured obstructive event?
4. Which pulse oximeter would be best? Should we buy a Zeo or other device (I would like to track HR, Oxy Sat and which phase of sleep he is in but I haven't found a device that does all 3. It would be nice to have a device that would catch arrhythmia just in case that's an issue).

I don't know what other questions to ask. Help!

Thank you in advance to anyone offering advice,
Marti

[MaxDarkside]

Questions:
1. Is HR variation of 30 to 196 bpm normal during sleep?

Not for mere mortals (normal people), but high heart rate variability is common with POTS. In fact, my wife's neurologist would like me to help her quantify heart rate variability in sleeping POTS patients and write a journal paper.

2. Is 217 arousals normal? or near normal?

I'm not sure, probably not, but my wife has POTS, specifically hyperadrenergic POTS with mast cell activation, and she just had a sleep study and had 249 arousals per HOUR.

3. What could be the reasons for his autonomic dysfunction at night - are the arousals due to erratic HR or due to a slight, unmeasured obstructive event?

I am guessing that he is over responding to desaturations (which cause a jump in HR anyway) and his over reaction is causing bigger jumps. It could well be he has hyperadrenergic POTS as well. My wife got that diagnosis at Mayo Rochester. The testing facility needs to be able to accurately measure epinephrine (adrenaline), norepinephrine, dopamine, etc. The hyperadrenergic POTS test is simple. They put in an IV port, patient lays down very quiet for 30 min. They take a draw, patient gets up and walks about with a timer in hand and when the timer goes "DING" they take another draw. The adrenaline / norepinephrine levels would be elevated in both draws.

4. Which pulse oximeter would be best?

I'll let others suggest, we have an older Contec CMS-50E. Works. Records overnight. Shows squiggly heart beat trace. Handy. There are likely better models now.

Should we buy a Zeo or other device

Maybe, it is useful, perhaps optional.

It would be nice to have a device that would catch arrhythmia just in case that's an issue

If you find one that works at a reasonable price, I'd be interested. The Contec CMS-50E does show some on the "squiggly heart beat trace" if you happen to be watching, or are sleeping tethered by a USB cable to your PC, but not like an EKG does.

I don't know what other questions to ask. Help!

Do you know if he had "Alpha wave intrusions" in his sleep study?

Thanks.

[MaxDarkside]

I would like to add that a HR of 30 during sleep is too low, but he's young and may be fairly "fit" and thus has a very low resting heart rate, but I think that's probably abnormally low. The cause of this bradycardia (30 bpm) *could* be mast cell activation (anaphylaxis), as you see, the antidote for anaphylaxis is... ha! ... Adrenaline, which may be what his body is doing, much like my wife, a battle between histamines and adrenalin, swinging back and forth. If he has sleep apnea, then the adrenal spikes can be even more pronounced. His sleep quality then is low and bingo!... narcoleptic qualities during the day.

Just a hunch.

You have a learning assignment, read, read read. Head to your nearest really good POTS doc / neurologist. Get some more tests, sort it out. It is a VERY challenging puzzle you and your son have. An "adventure".

[SleepingUgly]

Most of your post I cannot address. I will say that doing an MSLT after a need of untreated/undertreated OSA, and then basing a narcolepsy diagnosis on the results is pretty shoddy.

[DavidCarolina]

I have OSA and was tested cleveland clinic for pots. BP/Blood volume was within parameters but sweating diminshed. The implications of that are that the body can overheat internally. My pulse rate is unusually low, frequently below 50, and if you go to an ER they will take you right in at least at my age, although some people have a low pulse or a strong heart due to athletics.

How tall is your son? 170 sounds about right for somewhere just under six foot at that age. It must be a serious burden to deal with something like this at that young age. I wish i could be of more help, I think Max has a lot of experience with heart rate issues, BP, mast cell. For what its worth you might research

---dr. frank lichtenberger in statesville nc, mast cell specialist, former NHI fellow

--Dr. Kent Moore, charlotte, sleep doc, oral surgeon

--neurologists specializing in sleep, marcus stroud columbus ohio,

--dysautonomia or PANDYSAUTONOMIA http://www.medlink.com/medlinkcontent.asp

Obvously you've done adrenal salivary tests and thyroid testing?

[elegant_exotics]

I would like to add that a HR of 30 during sleep is too low, but he's young and may be fairly "fit" and thus has a very low resting heart rate, but I think that's probably abnormally low. The cause of this bradycardia (30 bpm) *could* be mast cell activation (anaphylaxis), as you see, the antidote for anaphylaxis is... ha! ... Adrenaline, which may be what his body is doing, much like my wife, a battle between histamines and adrenalin, swinging back and forth. If he has sleep apnea, then the adrenal spikes can be even more pronounced. His sleep quality then is low and bingo!... narcoleptic qualities during the day.

Just a hunch.

You have a learning assignment, read, read read. Head to your nearest really good POTS doc / neurologist. Get some more tests, sort it out. It is a VERY challenging puzzle you and your son have. An "adventure".

Thank you for your responses. I have POTS and Orthostatic Hypotension. A recent sleep study showed no apneas or hypopneas but erratic heartbeat - in the 30bpm to over 190 bpm (past the top scale). This was looked at AFTER my son's results. Inderal at 10mg has helped tremendously. The same doc had him on Inderal 30mg but no effect.

The doc (a Top Doc for cardiology/electrophysiology) said his POTS is different than mine and I do not have hyperadrenergic POTS so perhaps that is the key.

My son is not fit nor am I so I thought 30 was too low as well. The last thing the doc said to us as we were walking out was about Mast Cell Activation Disorder. We both think that's an issue due to severe allergies but the Z&Z protocol for MCAD didn't change anything (although it did for me!) There is another med for MCAD - Gastrocrom. I didn't start him on it because the Z&Z didn't seem to work. I will re-visit that.

Problem for us is that the great POTS doc is out of town which limits our visits. He was diagnosed with Adrenal fatigue in the past. What does your wife take for Hyperadrenergic POTS. I haven't done much research in that area. I treat my POTS with midodrine, Inderal at night, sea salt and excess liquids with electrolytes.

Thanks so much for your thoughts. We see his sleep doc tomorrow and a local POTS doc next week.
Marti

@SleepingUgly - yes, the narcolepsy diagnosis was a tentative diagnosis - mainly to justify the Nuvigil prescription to rule in/out the narcolepsy. This makes no sense to me because a stimulant will help with fatigue regardless of the cause. We see that doc tomorrow to follow-up.

@DavidCarolina - he has really been struggling and is close to falling into a depression. He is in danger of losing his full-ride scholarship and he only has 1 year left but cannot do it in this shape.

I am willing to travel to get help we need. I have researched Mast Cell specialists, primarily at Brigham Young in Maryland (forgot her name Costello - I would have to look it up) but getting in is such a difficult thing. I can pursue that though.

Yes, my son is just at 6', 170. He had adrenal fatigue, hypothyroid and hypoglycemia but all those numbers are improving so he is not on any medication now. It has been a while since we have an a saliva adrenal test so I may move forward with that. Thanks for the suggestion.

Everyone - thank you. You have given me some great ideas. Sometimes, when you are too close to the situation, you can't think straight!
Marti

[SleepingUgly]

@SleepingUgly - yes, the narcolepsy diagnosis was a tentative diagnosis - mainly to justify the Nuvigil prescription to rule in/out the narcolepsy. This makes no sense to me because a stimulant will help with fatigue regardless of the cause. We see that doc tomorrow to follow-up.

Right, Nuvigil can help sleepiness, regardless of the cause of the sleepiness. You can't make a diagnosis of narcolepsy based on responsiveness to stimulants.

Everyone - thank you. You have given me some great ideas. Sometimes, when you are too close to the situation, you can't think straight!

You seem to be thinking VERY straight, and doing a great job helping your son. He's lucky to have you as his mom.

[MaxDarkside]

I have POTS and Orthostatic Hypotension. A recent sleep study showed no apneas or hypopneas but erratic heartbeat - in the 30bpm to over 190 bpm (past the top scale). This was looked at AFTER my son's results. Inderal at 10mg has helped tremendously. The same doc had him on Inderal 30mg but no effect.

OK, so we have 2 POTS patients here? Your son's and yours are different. Your son's may be hyperadrenergic and may be MCAD (sleeping heart rates might suggest that) as does him having allergies (makes sense). You believe yours may include MCAD too. Hey, if your doc knows about MCAD that's a really good thing.

What does your wife take for Hyperadrenergic POTS.

Zyrtec (AM) and 100-150 mg Benadryl @ bedtime and 50 mg mid-day (H1 blockers)
Pepcid or Tagamet (H2 blockers)
1 dose propranolol (Inderal) in the **AM** (see below)

I treat my POTS with midodrine, Inderal at night, sea salt and excess liquids with electrolytes.

OK, one problem with that.... I would talk to your doc about that Inderal at night... NOT a good idea. It crosses the blood-brain-barrier and cause night terrors and makes you sleep badly. See if your doc says OK to taking it in the AM. You will sleep much better. Next, you may FEEL hypovolemic and thus think you need salt water (my wife did some time ago until discovering her MCAD), but your symptoms may be due mostly to MCAD, which gives much the same symptoms and salt water is not going to fix that. Confirm with your doctor that you are actually hypovolemic. Fluids with electrolytes is good. My wife drinks water with NUUN tablets (vitamins in there too).

NEXT: Get a recumbent exercise bike and use it. It will help with the low BP / hypovolemia symptoms and get you into shape. Stronger leg and butt muscles help keep blood up to the heart.
NEXT: Get an abdominal binder for when you are feeling very POTSy. Wrap it tight. It helps, especially if you have chest pain from not enough blood return to the heart. Control-top panty hose help too. Your son may want to stick with just an abdominal binder unless he likes wearing panty hose (LOL). Hey, if it helps and it's under his clothes, so what!
TIP: If you feel really Potsy standing and have chest pain, squeeze your butt muscles... WA LA! Gone (ok, at least better) LOL

(the above information is worth precisely what you paid for it... LOL)

[MaxDarkside]

Oh, and it's true that some H1 blockers may stop working for you, whatever the reason. You may need to rotate to a different one now and then, but there are many. You could talk to your doc about some of the ones listed here on Wiki:
http://en.wikipedia.org/wiki/Histamine_antagonist

They are their chemical names mostly I think. You could compare this list with what you see on the shelves at your local drug store and find one(s) that work for you (presently).

The recumbent bike might sound impossible, you may be exercise intolerant, maybe can't walk very far before feeling very symptomatic, more so in the heat, but exercising while sitting with your legs more forward than down is a lot easier for POTS folks.

If your son is having arrhythmias, such as "flip-flop-flutters and coughs", have a doc put him on a Holter monitor for a day or few, likely they are PACs and PVCs, somewhat benign but a pain in the ass, and you might ask for an echocardiogram to make sure he does not have any hypertrophy (heart enlargement). My wife has hypertrophic cardiomyopathy (HCM) which starts with "myocardial disarray", that means her heart's muscle fibers are not aligned, but scrambled, which messes with the electrical signals in the heart, hence prone to arrhythmias. She has a lot. "Myocardial disarray" cannot be seen on an echo or cardiac MRI, but in the later stages the heart becomes less effective in pumping, thus low BP's and narrow pulse pressure (difference between systolic and diastolic) which makes the POTS symptoms worse and causes the heart to enlarge. Not likely in your or your son's case, but possible. The HCM people say that POTS is not associated with HCM, but my wife may be an exception. It's best that your son, and perhaps you, are checked for this.