Being tested for MG
 

Hello, and thanks in advance for any help I may receive.

I have two rare autoimmune conditions already - cryoglobulinemia and aquired angioedema II (apparently one of only 40 ever diagnosed in the US with this type where my own body is attacking my c1 esterase). These made it difficult for me to tell if some of the more severe and odd symptoms I was having were cryo symptoms or something else, as cryoglobulinemia can cause all sorts of problems and symptoms. I am a part of a support group though where we share our symptoms, and a few I have just weren't fitting with everyone else's. And one in particular has been getting so bad - the double vision - I scurried off to the opthalmologists yesterday.

The opthalmologist essentially found that I have a 'wandering eye'. He was very brusque however, and very quick, and wouldn't you know it, my usual blurriness didn't seem so bad yesterday. Anyway, I have a drooping lid, an eye with exotropia (despite having perfect vision until it's recent decline), sometimes my whole face looks droopy, hoarseness if I talk more than a few minutes, trouble breathing (feels like something heavy pressing down on my chest - and at times I am blue around my mouth), and I have been getting these horribly painful esophageal spasms over the last two weeks. Excruciating. Of course I haven't had a work up yet. My doctor did a test for MG after seeing my droopy eye and hearing my voice.

Some of these things happen with cryo, blurriness, hoarseness, and even drooping I think, and pulmonary issues, but not the wandering eye part. It has gotten so bad ain't is incredibly difficult to read. Right now I have patched one of my eyes to try to minimize the double vision, however it's still there.

Does this sound like I may have MG? Which doctor would be the best to see?

Thank you.

Welcome to NeuroTalk:

I too, have a diagnosis of HAE (hereditary angioedema)...only mine is slightly different. Less pulmonary, less blurred vision (only a little with fatigue and only when doing close work), but lots and lots of GI swelling, and terrible swelling with any trauma or invasive procedure. I believe that the angioedema is rather specific to the person, in how it presents. For females, estrogens in hormone products can be contributory.

I can't help with the MG connection, but I certainly can understand the angioedema problem. I just had some dental work, and that put me in great pain (which was more extreme than the procedure), just because of the needles used to numb the area. It can seem like I am crawling out of some kind of "hole" pretty often now, that I am older! I think this is more common than the medical community realizes. So now I am very protective of myself and evaluate any invasive test or procedure. If it is not obviously needed, and only being pushed for money like the endless colonoscopies, endoscopies, etc..I will pass on those. I pass on unneeded radiation tests too.
My swelling problems (knee, ankle, belly, hands, come and go).

Some foods are triggers for GI angioedema... acidic things, fresh fruit and eggs are triggers for those with GI angioedema.

There are some very good sites about it now...one with a long paper on bradykinin, explaining how it works in the body.
I just can't find that one today.... dang.

This is one good site also:
http://www.hcplive.com/publications/...-04/2005-04_02

Thanks for the info on angioedema MrsD. My type of angioedema is autoimmune, which is a lot harder to treat, because my body has created antibodies to c1esterase, which means a lot of the great new meds aren't so helpful for me. But I am still struggling to work out what in the blazes sets off my swelling, so your post has given me impetus to research more on bradykinin. I had no idea about the fruit, which I eat often, or eggs. Unfortunately I am swollen almost all the time, only very rarely does the swelling dissipate these days, and it is very much GI and facial. Extremely uncomfortable and embarrassing. I never want to leave the house anymore.

But hardly being able to see suddenly is causing me some distress. For instance trying to use the computer now is so difficult. I have double vision and blurriness, so it's a real struggle to see and type. Especially considering it happened so quickly.

Has anyone got any help for me?

Welcome Sandrine!! Sorry, I'm not on here too often these days.. I don't know much about the angioedema, and I am still kind of a mystery myself (with LEMS being top of the list, I get IVIG every 3 weeks).. anyhow.. it sounds like MG could definitely be a possibility.. did they test you for MUSK and LEMS as well?'

Do you have any other weakness, or is it localized to your eye? Does it get worse throughout the day? For me I wake up and can't blink, and once I try a few times, then I can blink again.. Do you have swallowing issues? Have you gotten any of your bloodwork back? A lot of people go to neuroopthamologists for diagnosis with eye symptoms.. do you have one near you?

Thanks so much for the reply!

The neuro just did one test, for MG. My symptoms are droopy lid, double vision which used to be intermittent but just last week became permanent and really bad, although it gets even worse as I tire, the side of my smile where I have the droopy eye is weaker too, I get a hoarse voice after talking for short periods of time, heavy feeling chest like it's hard to get a breath in. Swallowing doesn't feel like I have a strong motion if that makes sense. It feels a bit weak, and like I have to be upright and let it wash properly. Often things just sit in my esophagus, and in fact I am used to that sensation - pills and food just sitting there until I wash it down with something. I also have been having these tremendous esophageal spasms that are excruciatingly painful!

I have a lot of other symptoms, many could also be part of my other illness cryoglobulinemia. I have neuropathy in my arms, hands and feet. Lately it is really bad in my hands and fingertips. It seems as though my right hand, which is my dominant side is a bit clumsier than usual. I have terrible GERD, and have had an asphyxiation pneumonia during a routine colonoscopy that almost killed me. The doctor tried to claim I had been eating - of course I hadn't. I suffer terrible daily migraines behind my eyes, and light sensitivity. I don't want to go on too much!

I am interested what other testing I should have. The opthalmologist said I have lost control of my eyes for some reason,despite still having 20/20 vision. They are weak and wander. He said it could be the cranial nerves, or MG.

I really appreciate any help I can get. My double vision is killing me, because using my iPad while I rest (which is a lot because aI have major fatigue from the cryo) was my favorite thing to do, and now it is an extreme frustration with blurring and words everywhere.

By the way, I take rituxan infusions for my cryo, and it seemed to help with the symptoms of MG, as before I took rituxan the first time, my facial drooping, breathing issues etc were very bad, and they improved dramatically. Unfortunately the second infusions haven't worked quite as well as the first however. I only get about four months of partial relief from them.

There's more than one test for MG. My neuro just ran one for the MUSK antibody and said it was the most likely to be positive because my symptoms are most prominent around my face, throat and chest. I have a 4th nerve palsy (which sounds similar to your "wandering eye"-- the ophthalmologist said that the muscles that control the eyes are weak and can't hold both eyes on track, especially late in the day), difficulty swallowing, difficulty breathing (feels like so much work to take a full breath), and some weakness of the facial muscles.

They did a repetitive nerve study and a standard EMG on me-- they've discussed doing a single fiber EMG but are waiting for the symptoms to get bad again. I had a bunch of testing with pulmonology, a modified barium swallow to watch my throat muscles work, an echocardiogram to rule out pulmonary hypertension, and an MRI and CT to rule out tumors and MS (that was very early in the process when my only symptom was double vision).

My neuro mentioned an ice pack test and a Tensilon (?) test that can be done in the office, and he gave me Mestinon to try and told me that it's partly diagnostic.

I hope some of that helps-- I'm brand new so I don't know much yet, just what they did for me.

Hi Sandrine

I can't say anything sensible about your possible MG and acquired angioedema II but, as somebody (day job) who knows quite a lot about immunology, but not as a clinical health professional, here are some thoughts about your cryoglobulinemia:

Broadly speaking it comes in three forms.

Type I is often associated with neoplasia like multiple myeloma or Waldenström macroglobulinemia - getting your GP to refer you to an oncologist could help here.

Type II is associated with Hepatitis C virus infection - seeing a liver specialist might be of benefit.

Type III is linked to autoimmune diseases like systemic lupus erythematosus and rheumatoid arthritis. A specialist clinical immunologist should be able to investigate these possibilities.

Hi Kiwi,

My cryo is well understood and being treated as discussed with rituxan. I came here for help with MG. Thanks though! Same with my aquired angioedema.

Art and Iron,

It sounds like you and I are having very much the same kind of symptoms. So it's the 4th nerve is it? My neuro ran the other MG test, not the MUSK one. Oh well, I am seeing another neuro on the 13th. It seems forever to wait when seeing double and feeling so crappy.

Wow your neuro is totally onto it! Seems like they are doing everything under the sun. I have an MRI with contrast scheduled. My PCP arranged it, in case something is pressing on my nerve.

Have you got any kind of results showing anything yet?

At first they had no idea what was wrong so I got worked up by a bunch of different departments. Pulmonology was first. I had a really low, a medium, and a couple of normal pulmonary function tests. Pulmonary stress test showed a severe drop in O2 at the height of exertion but they didn't know why so they sent me to cardiology, but the echo was normal. Then they started with the blood work. CPK came back very high. The first antibody test was negative and I haven't got the others back yet.

Regular EMG was normal, repetitive nerve study was within normal parameters, but the exam showed weakness in the face, arms, and legs so I got the mestinon trial and it works.

He said he'd try Tensilon and a single fiber EMG at my next appointment if the weakness is showing up more then. He didn't write me off, which was nice. It's amazing what a difference it makes to have even one positive test result. I went through years with joint pain but no test results and could never manage to get doctors to take me very seriously. They did eventually diagnose fibromyalgia but there was no sense of urgency. The doctors I've seen this year have been really invested in figuring this out. Which is both a relief and kinda scary.

That's great news Aand I. I understand how frustrating it is to be sick and not taken seriously. It sounds like you have your answer seeing the mestinon worked. I wonder if they will look at your thymus?

Fibro shouldnt cause joint pain. I wouldn't be surprised if ineveitably something autoimmune and inflammatory shows up as being what has been causing the joint pain. MG can cause muscle exhaustion I believe, but not so much pain except through muscle strain type,of,thing - but I am far from an expert,,I,have just begun reading.

The mestinon worked and I think that might be enough for my neuro-- he at least seemed convinced that something was going on. He was kind of a jerk honestly, although not to me. I don't mind and usually get along with people like that, but I think if he thought I was wasting his time he would have let me know. But I keep reading horror stories about people responding well to mestinon and having their diagnosis removed anyway and not being able to get it (or get in to see their neuro anymore), so that makes me a bit nervous. I assume if my blood test had been positive they would have called me.


The way I understand it is that the "joint pain" I feel is actually muscle pain. I used to think it was crap and that surely I'd be able to tell the difference but it's been 14 years and I'm willing to admit that I might have been wrong. My main argument that something else must be going on was always that I would have low grade fevers and swollen glands when I wasn't sick but was just tired and run down. My last rheumy mentioned that it could be similar to what chronic fatigue syndrome patients report. The fevers were never high enough to "count." I have a lot of other classic fibro symptoms-- muscle pains, tender points, chronic migraine, and pain when being touched. But fibro treatments have never worked for me. I take neurontin because they tell me I should be on it but it doesn't make any difference. And I've tried all the others over the years. For awhile I had a rheumy who diagnosed me with and treated me for seronegative lupus, but then we moved and I've never found another one who was willing to entertain that idea.

My main complaint right now is that my fibro (or whatever) is an illness that responds well to heat and poorly to cold. The MG symptoms seem to respond better to cold. So mostly I have to avoid extremes at both ends if I want to feel okay.

Anyway sorry I kind of hijacked your thread. :o The waiting sucks I know. I'm not sure how possible it will be to disentangle your symptoms since it sounds like you've got a lot going on.

Not hijacking at all A&I. Interestingly I have had chronic migraine for years too. Also can't do extreme temps, but the cryo may be to blame for that. I have terrible joint pain, muscle pain, and nerve pain - cryo related. Bedridden mostly.

So my test came back this morning. My neuro only ran one. I believe it was the ACTH or whatever, (not the musk), and it was negative, surprise surprise! I didn't think it was going to be an easy one off thing. I will be seeing a proper neuro muscular neuro on the 13th. Hopefully more help.

Weirdly, aside from double vision from both eyes, I also have extreme blurring from just one eye, even if I cover my eyes to try to make the double vision better. Have you had this? Or do you suffer from the eyes not converging at all?

I understand your frustrations working with a rheumy trying to get a diagnosis for your pain/fatigue. Most can't be arsed if the obvious tests don't come back positive. There are indeed plenty of conditions (such as lupus) that are sero negative and based on clinical diagnosis - if your neurologist is interested enough, educated enough, or cares enough to make one.

All the best.

Hi, Sandrine.

A negative MG antibody test doesn't mean much. There's the MuSK antibody test, and a load of other suspected targets in the neuromuscular junction that they either don't have tests for yet or haven't even discovered!

A good MG expert will do a thorough clinical exam, testing for fatigable weakness, which is the hallmark of MG. Do you know of one in your area?

You might not have MG, but "guessing" at that on the part of the doctor is not a good idea. New and undiagnosed MG patients are at risk of a MG crisis, which can be life-treatening. So if you can't swallow, breathe in or out well, or can't move well, that's the time to dial 911.

I'm not saying that to scare you, only to inform.

Some nerve conditions can be to cause for your symptoms. Multiple sclerosis, for example. A good primary doctor can ferret that out for you, too.

You wrote:

You can't separate out diseases when looking at any new symptoms, which I'm sure you know. Making assumptions only puts you at risk of not completely figuring out what is going on.

Have you tried some simple testing with your primary doctor, such as B12, Vit. D, thyroid, comprehensive chem panel, UA, ECG, etc.? Sometimes clues can come up on a thorough once over. Do you have any digestive issues?

MG double vision is binocular (sorry, JJ, but it is), and when you close one eye, the DV goes away. If yours is from other causes, a MRI might be revealing. If not, you could see a neuro-ophthalmologist to help you. They are not the same as regular ophthalmologists!

It would be a very good idea for you to make a list of what you know are Cryo symptoms, and write down any new symptoms, when they occur, etc. Not only will it help the doctor to see symptoms in black and white, but they might take you more seriously when there's a paper trail.

I have no idea if you have MG or not. As you said, you need to start with a good neurologist who will find an answer, not find a "not" answer. ;)

Good luck!

Annie

Thanks for your thorough answer Annie. I think you misunderstood what I was saying regarding my cryo though. I wasn't trying to separate the diseases, as I am very aware how entangled autoimmune conditions are, especially if you suffer more than one. I just meant that I didn't need the help with basic research on cryo that was offered due to having been diagnosed and treating it for some time, and quite up on the disease, it's causes and myriad symptoms.

I am having more and more trouble breathing, having dizziness, and I am hoarse all the time after just short uses of my voice. I feel very weird, almost like I am disconnected from my body, with extreme fatigue.

The convergence issue is one thing the opthalmologist diagnosed, and he also said I have a 'jerking' eye back and forth. My husband saw this today. He said when aI blink my eye will jerk back and forth suddenly. My lid is drooping all day lately too.

I will be seeing a neuro that is experienced in neuromuscular disorders in a week and a half. It feels like so long to wait.

Thanks for the help.

While those symptoms are going on, make sure that you take photos and/or videos of them! And then try to take shots when your eyelids are normal, too. Make sure that you take the shots in the same location (backdrop), with the same lighting and head tilt.

Even when you know a disease, it can always surprise you. That's why I said what I did. ;)

Annie

Thanks Annie. Yes, I had starting taking photos,of my lid droop. That is why the neuro and opthalmologist both suggested I test for MG. I am continuing to take photos of it. I have photos without it too. Often it is not so bad when I go in for an appointment, maybe because aI have spent less time reading on my iPad!

I joined a great FB support group for MG. Someome suggested trying the 'ice test'. Last night as usual the deoop was severe, so I tried it with a cool washcloth rather than ice which is contraindicated in cryo. After a few minutes of holding the cloth to my eye, I had a huge shock to see my eye popped wide open! It hasn't been that wide in years. I ran out to ask my husband if he noticed anything, and of course he picked it up right away.

This morning I took photos of my eyes. They look considerably more open than the evening before. It appears that both eyes droop, just one much more significantly. We also looked at pictures from 6 years ago. Some show the lid droop - particularly pictures when I'm not feeling well. I have been closing that eye to deal,with the double vision for some time. It has become most problematic now because both eyes are blurry on top of the double vision, so it doesn't help much to,cover an eye. Well, it helps somewhat, but my vision is still apalling. I have 20/20 vision according to opthalmologist. It just seems like I can't get my eyes to focus. I have tried moisturizing drops, everything. Very annoying!
Worst is that I used to be a singer songwriter. and given that I can barely talk for a couple of minutes without going hoarse, if feels like those days are over. I,was hoping that one day I would get my cryo into remission and I,would,get back into it... Those hopes,are,fading fast