Final diagnosis, and it's not good news - dysautonomia

[y-gwair]

We have finally got to the bottom of my burning eye and face pain. Having got nowhere with ophthalmology or dermatology over the last year, I finally saw a specialist in autonomic and neuro-vascular medicine, Professor Mathias at St Mary's Hospital, London, who confirmed that my face pain is related to widespread autonomic nervous system dysfunction, and the pain in the face are is probably related small fibre peripheral neuropathy.

The term for this is Erythromelalgia, which is usually pretty refractory to treatment, as I have found. So far, none of the recommended treatments have worked, full dose gabapentin had no effect, and even morphine has done nothing to improve the worsening pain, which is so bad now it feels like my face has been scalded with boiling water. I'm currently trying Lyrica; if this doesn't work the last resort will be to try anaesthetic nerve blocks.

The autonomic dysfunction is also causing more generalised circulation problems, resulting in a condition called Postural Orthostatic Tachycardia, which means my pulse races when I stand up, and causes worsening dizziness the longer I am upright. Again the treatment is difficult, and mainly involves trying to dampen alpha adrenergic response, and controlling norepinephrine levels with SNRIs and other drugs. Other conditions to rule out with these symptoms are Mast Cell disorders, and adrenal/carcinoid tumours.

It seems that these conditions often first manifest as eye symptoms. If anyone is suffering from burning eye pain, refractory to the usual treatments, consider looking into neurological causes, particularly if you are suffering any signs of palpitations, dizziness or odd leg sensations.

I really don't know what the future holds, both my pain and neurovascular specialists were not optimistic about prognosis, especially as my condition is complicated by additional autoimmune dry eye/mouth sicca and myalgia which tends to made worse by drugs used to damp down sympathetic overactivity and constrict blood vessels. Similarly, drugs used for POTS that improve acetylchlorine messaging (which might help dry eye) like Mestinon cause vasodilation which worsens the erythromelalgia, so I am caught between a rock and hard place treatment wise.

[Hopeful2]

I am so saddened to hear of this diagnosis. I have not heard of this happening before. I am wondering off the top of my head, if some of the treatment prescribed by Dr. Rosenthal at BFS, used for neuralgic eye pain might be helpful. I believe there is some sort of a machine, similar to a TENS machine which is supposed to be effective for some sufferers of neuralgic pain.

Have you looked in to alternative medicine services: acupuncture, hypnosis, meditation, breathing exercises? I wish I had something more to offer.

I imagine it must be hard to stay positive. . . I would be looking for anything that would give me some hope, even if just a glimmer.

[y-gwair]

TENS doesn't help sympathetic pain, very little does. Oddly the burning has now stopped in my eyes, the aqueous dryness issues are better since stopping Clonidine and other drying drugs, and I think HRT has helped dryness issues too (oestrogen apparently enhances acetylcholoine, which might explain that) but the face pain and flushing is getting worse all the time. Erythromelalgia is famously refractory to treatment, certainly my experience.

[Lacrima]

Hi Y-gwair,

I'm sorry to hear about your diagnosis. I hope despite this, you are relieved to finally know what is going on. Sending you kind thoughts,

x

[MaryVa61]

Hi Y.

I recognize you now from my other group. I'm glad you shared your update with everyone. I've thought a couple of other people in this group had some similar problems to yours and mine, but without our Erythromelalgia. I'm to be evaluated by a doctor on March 28th at the Harvey Institute for Human Genetics in Baltimore to see if my underlying problems are due to an inherited connective tissue disorder (Ehlers-Danlos, Marfan, etc). Dysautonomia often occurs with those and some of my family members are diagnosed with POTS. Since I learned from a geneticist in Richmond that these may be my problems, but had to wait months for an appointment with a specialist, I've gotten tips from other patients which have helped me. My philosophy is that if 20 different small changes in treatment each help a small amount, it adds up to very worthwhile improvement. I really value the small improvements I've had.

Although I still struggle with the DES my eyes are doing really great now compared to the past, since discovering that Type IV chemical allergies were the cause of my most severe eye symptoms. Just eliminating those chemicals has been such a huge help to my eyes. A year ago I felt very hopeless about finding the cause of my painful eye symptoms and other health problems, but now feel more hopeful. I know there are not cures for those disorders, but at least treatment won't be based completely on wrong diagnoses as in the past, which is not only pointless but made things worse so many times.

I hope your new diagnosis and further explorations related to it lead to better treatments for you!

Mary (Mary in VA)

[y-gwair]

Hi Mary,
I wonder if some people have EM or a similar condition limited to their eyes and periorbital region (maybe including the sinuses, which can also be affected by painful vasodilation). Difficult to get EM diagnosed properly if it's limited to the face, probably impossible if there are any even rarer instances where it affects only the eyes. It certainly caused additional MGD in my case, in the eyes it seemed to shut meibum production down, which probably just confused matters even further.

The odd thing is that the intense burning/red veins have more ore less remitted completely in my eyes over the last 2 months, I'm sure it was EM burning rather than anything to do with dryness as the skin below the eye used to redden and swell at the same time as the eyes. I don't understand, as since the eye area has improved, the intensity of the pain has deepened over the rest of the facial area.

[MaryVa61]

I suspect there can be a good variety of ways EM affects the eyes. I developed EM around the same time period that my eyes first flared up, and high intraocular pressure soon after, but I only had EM in the hands and feet back then and didn't have a hint of EM in my face/ears until 15 years later. But I was heat-sensitive all over, easily dehydrated and very sensitive to many meds and to chemicals ever since the EM first started, and the meds and chemicals affected my eyes.

It all seems complex. Maybe there's more than one problem affecting your eyes/face and one condition has improved but not all.

Maybe it'll help me when I find out for sure if my underlying disorder is Ehlers-Danlos or a HDCT, when I see the specialist next week. I know EDS can affect the eyes in many ways, and skin and pretty much everything else. Have you been on the website of Dr. Diana Driscoll prettyill.com & theeyedocblog.com)? She's very up on ways EDS and blood vessel problems can affect the eyes and I think she has POTS too.

[Tanner]

I have a condition that is painful involves my nerves and morphine doesn't help. It is scary and I don't know what is going to happen with me. Some people with my condition have had success with botox they do use it for nerves. Didn't work for me.

[y-gwair]

Prof Mathias was pretty sure it was Ehlers-Danlos. Not sure if the special tests he wants to do included a genetic test for that. I suspect my whole family has it, as they all have conditions indicative of a CTD (raynaud's, hiatus hernias, reflux, varicose veins, pupils that are permanently dilated, equally distributed in both male and female), he thought the family history was significant. Trouble is virtually all the medications for this problem seem to be counter-indicated for my other problems i.e. many POTs medications cause flushing which will make the EM worse; alphablockers for flushing/pulse rate cause bad dryness/sicca symptoms; betablockers counter-indicated because of the myalgia. Doesn't leave very many things to try.

Sorry to hear that Tanner, sounds like we are in the same boat. It is scary, especially when the doctors admit they really don't know if anything will work, and are running out of ideas.

[littlemermaid]

Y-gwair, My friend (nurse) just had a partial nerve block for TMJ at Stoke Mandeville which she says was great. Although she says, take the anaesthetic option for the procedure, if you go that route. I know this ain't the whole picture but some ray of hope.

[y-gwair]

Not sure they work for EM because of the vascular element, quite a few people have tried them with only limited success. Small chance that it might be complex regional pain, for which the pain specialist thinks a block might work well, but fairly sure now that it is classic EM as it seems now to be affecting my feet as well.

[MaryVa61]

There is research going on regarding the eyes and Ehlers-Danlos, but nothing yet on it causing EM. I'm not sure the researchers have made the connection. I did see one medical article on an association between EDS and CRPS, which I wonder if some of their CRPS syndrome patients really had EM. Mine is more classic EM also in the it started in my hands, then feet, then ears so it couldn't simply be from joints sublaxing and causing arthritis and damaging nerves. Ears don't sublax.

Most people I've talked to with EDS have the most success managing their symptoms with lifestyle changes (food limitations, great shoes & mattresses, hydration, etc), supplements, PT, OT, chiropractic, pain medicine specialists and sports medicine specialists. And many follow some of the guidelines of managing Mast Cell Activation Syndrome, even the ones not officially diagnosed with it, because it seems to help a bit. The meds seem mostly to be the same meds for EM and Fibromyalgia. However, most don't have full blown EM so I haven't gotten any useful info from them on managing that, except that great sandals do help a bit (with all 4 types of arch support, natural breatheable materials). The Cytochrome P450 enzyme metabolism tests are helpful in selecting meds and avoiding increased problems due to drug reactions.

Seems like there is much more EDS symptom/complication research going on than specifically EM research because EDS is not as rare, so maybe there will be some help for our EM from the EDS researchers eventually. But it doesn't seem to be available now. So frustrating!

I think it's Dr. Driscoll's website that has a printout to give to eye docs that lists all the possible eye problems (many!) associated with EDS. If you want it to give your doctor I'm sure I've saved it and can find it and send you the link.

Mary

[y-gwair]

I think its simply that EDS makes the collagen in blood vessels super-stretchy, resulting in inappropriate vasodilation. EM is supposedly caused by microvascular arteriovenous shunts, which mean that the bit of vascular plumbing that should usually be constricted is inappropriately dilated. I also wonder if autonomic anhidrosis (particularly in the peripheries) triggers excessive blood flow to overcompensate for the lack of cooling from sweat production. That's why I'd like to try Mestinon, which is used for POTS but also stimulates saliva/lacrimal function and sweating by stopping the breakdown of acetylcholine ( I've read that if you have oral/ophthalmic sicca it's likely that you also have the autoimmune form of POTS, the mechanism being autoantibodies against acetylcholine and alpha adrenergic receptors).

[MaryVa61]

I agree that's probably why people with EDS so often have trouble with flushing and blood pooling in their feet, which so many of them have, but doesn't really explain the severely painful EM that only a few have. In my extended family there is a sibling group with POTS/dysautonomia and symptoms of EDS without EM and a sibling group with the same problems and also EM. Then there is me and my sister. I have EM and she does not. Most POTS people do not seem to have it. But I keep running across EDSers here and there who do.

But my above post wasn't as much questioning the mechanism as commenting on the fact that researchers don't seem to have yet identified EDS as one of the disorders that can cause EM. They are so focused on IEM, and are not working on secondary EM and it's various causes and treatments, which makes it difficult for us to be appropriately treated.

If you try Mestinon, I'd love to know the response you get. After the trouble I had last year with treatments I was trying making me worse, I've given myself a break from trying any new meds this winter. But with the summer heat coming, I'm likely to try again out of desperation, but will be careful this time about the CYP2D6 drugs I can't metabolize right. I hope they let you try it.

Mary

[y-gwair]

Prof Mathias said in his letter that he thinks the flushing/EM is primarily a sudomotor issue linked to anhidrosis (in my case). When it came on very suddenly last year I noticed that my already very limited ability to sweat had more or less disappeared. My skin dried out and went crępey all over my arms and legs virtually overnight, and my sebaceous glands went in to overdrive, pouring out like sweat as if to try to compensate. I stopped sweating on my scalp completely. There have been studies done which suggest a strong link between EM , anhidrosis and inability to regulate temperature so he might be right about this.

I don't know why the pain is so severe either, I guess it's down to having a hyperactive sympathetic nervous system and/or deficits in neurotransmission. It seems that all my mother's siblings have EDS, probably some cousins, but none have my particular combination of problems or severity of disease, although my mother does have EM in one of her toes.