Aa
Autoimmune related?
I have Harlequin Syndrome and seem to have some autoimmune symptoms as well. ( legs weak and out of breath on steps, unusual muscle twitches, forgetfulness, periodic restless legs) I just read "The Autoimmune Epidemic" and it had Autoimmune Dysautonomia on the list of proven Autoimmune diseases. Has anyone heard of this? I can't seem to find much info on it, and even went to the website recommended by the book for more info.
Yes, they have checked her catecholamines twice and both times were normal. However we just arrived home from a 10 hr trip to Dallas to UT Southwestern Autonomic Clinic where she was given autonomic tests and an evaluation. The tilt test showed POTS (Previous tilt showed OH but not POTS), the sweat test showed decreased sweating (but mildly), the nerve conduction study showed neuropathy. The doctor diagnosed POTS and Autonomic Neuropathy.
She is also ordering more tests: one being epinephrine and norepinephrine. Katie has had this done twice before but both times she was sitting when blood was drawn and the Dr at the clinic said that it makes a difference in results depending on her position. She had blood drawn lying down (after lying still for 20 mins) and the she had to stand for 10 mins before blood was drawn standing. We don't have those results yet.
She is going to start her on Propranolol to start off with to see if that will help her symptoms.
She is also ordering more tests: one being epinephrine and norepinephrine. Katie has had this done twice before but both times she was sitting when blood was drawn and the Dr at the clinic said that it makes a difference in results depending on her position. She had blood drawn lying down (after lying still for 20 mins) and the she had to stand for 10 mins before blood was drawn standing. We don't have those results yet.
She is going to start her on Propranolol to start off with to see if that will help her symptoms.
This may be way off base, but my neurologist (autonomic specialist at Mayo) told me that elevated catecholamines usually will cause pale skin. I asked him because I have elevated catecholamines but I flush all the time in my face, arms and legs. Has you daughter had her catecholamines checked?
I wish I could give you an answer, but we all seem to be in the same position. We don't have something that is common and life threatening so the doctors put us off and say it is nothing. My advice is to not give up. Keep seeing doctors until someone finally cares enough to do something. We finally have an Internist who is not giving up but after hundreds of tests, he cannot get a definitive diagnosis. But he has now referred her to the autonomic clinic.
We have been battling my daughter's illness for 4 years, with the last 1 1/2 showing very serious signs and we still do not have a definitive diagnosis. Her daily life has been dramatically affected by the multitude of symptoms that she has.
We are leaving early tomorrow to drive 10 hrs to Dallas to have her tested and evaluated for an autonomic disorder. I am certain that she has an autonomic disorder but we don't know which one and some of her symptoms don't go with autonomic. Such as flushing and heart issues. Her blood work came back positive for autoimmune but when further testing was done to see what type of autoimmune, the tests came back negative.
So far we do know that she has: Orthostatic Hypotension, Spinal Biffida Occulta, Breast Fibroadenoma (benign), Minor Mitral Valve leak, hypermobility/flexibility (I think may be Marfan's), and her right vertebral artery does not connect to the basilar artery, it ends in PICA. The doctors think that each of these things are insignificant and not a big deal. But obviously when all put together, there is something big going on. She has approx 50 different symptoms from the dysautonomia list plus others.
I wish you the best. Don't give up.
We have been battling my daughter's illness for 4 years, with the last 1 1/2 showing very serious signs and we still do not have a definitive diagnosis. Her daily life has been dramatically affected by the multitude of symptoms that she has.
We are leaving early tomorrow to drive 10 hrs to Dallas to have her tested and evaluated for an autonomic disorder. I am certain that she has an autonomic disorder but we don't know which one and some of her symptoms don't go with autonomic. Such as flushing and heart issues. Her blood work came back positive for autoimmune but when further testing was done to see what type of autoimmune, the tests came back negative.
So far we do know that she has: Orthostatic Hypotension, Spinal Biffida Occulta, Breast Fibroadenoma (benign), Minor Mitral Valve leak, hypermobility/flexibility (I think may be Marfan's), and her right vertebral artery does not connect to the basilar artery, it ends in PICA. The doctors think that each of these things are insignificant and not a big deal. But obviously when all put together, there is something big going on. She has approx 50 different symptoms from the dysautonomia list plus others.
I wish you the best. Don't give up.
My son has harlequin Syndrome. I first noticed his flushing on side of his face when he was a toddler and thought he was just unique. Years later when he was 4 I noticed that one of his pupils was larger than the other.
He was sent to a neurologist who did bllod work, MRI and a cat scan. This revealed nothing and we were told he would just live like this. During the series of appointment the opthomologist did say it was somewhat like horners however there was no drooping and it did not appear until he was 4.
Months later in the summer he became so hot he started to sweat on only one side and only one side of his face was flushed and like many of you you could just draw a line right down the middle of his face.
I had not yet noticed the sweating. This worried me so I googled the symptoms and found harlequin Syndrome. I contacted my Dr. and made another appointment adn shared this with her. She had never heard of this before and was to consult a neurologist and get back to me. When she did get back to me she said the neurologist would not see my son because his previous test resulted revealed nothing and this is not a progressive condition.
This is very frustrating to me as I have no information and I do not know if I should allow my son to participate in sports or regular activities in whic he will become overheated. Do you any of you know if any harm can come if he becomes overheated?
Also when he is playing he does complain of chest pain he says his heart hurts but he his holding the wrong side for it to be his heart. I am very dissapointed in how the medical field has handled our case or should I say not handled it.
I have nothing to go off other than the internet.
Thank you,
Shortkakes33
He was sent to a neurologist who did bllod work, MRI and a cat scan. This revealed nothing and we were told he would just live like this. During the series of appointment the opthomologist did say it was somewhat like horners however there was no drooping and it did not appear until he was 4.
Months later in the summer he became so hot he started to sweat on only one side and only one side of his face was flushed and like many of you you could just draw a line right down the middle of his face.
I had not yet noticed the sweating. This worried me so I googled the symptoms and found harlequin Syndrome. I contacted my Dr. and made another appointment adn shared this with her. She had never heard of this before and was to consult a neurologist and get back to me. When she did get back to me she said the neurologist would not see my son because his previous test resulted revealed nothing and this is not a progressive condition.
This is very frustrating to me as I have no information and I do not know if I should allow my son to participate in sports or regular activities in whic he will become overheated. Do you any of you know if any harm can come if he becomes overheated?
Also when he is playing he does complain of chest pain he says his heart hurts but he his holding the wrong side for it to be his heart. I am very dissapointed in how the medical field has handled our case or should I say not handled it.
I have nothing to go off other than the internet.
Thank you,
Shortkakes33
Hey all,
I have Harlequin syndrome too, and made also the experience that it takes a while till you bump by chance into a doctor who knows the syndrome. Which is odd, because the symptoms are so strikingly specific (if you put in the right words in Google, you'll find it instantly). But I guess it is because it is such a rare condition.
I am 26 and had the typical Harlequin one-sided face flushing for the first time five years ago. First doctors told me that they don't know what it is, but they did some MRIs and said I should not worry. I then pretty much found out by myself that it is called Harlequin and went to see one of the doctors who wrote the article in the Nature (the first one cited by Heiferly), who knows probably relatively much about the syndrome. After many tests it turned out that I have a strange version of Harlequin, as in my case the side which turns red is the malfunctioning one, while usually in Harlequin the side which stays white is the broken (and the other side turns red to compensate for it). No causal factor could be found.
For me it went bad, my condition worsens and one condition after another gets added to the original Harlequin syndrome. By now I additionally have Sicca syndrome (dryness in eyes, mouth, nose), abdominal problems, a constant slight (but annoying) fever in most parts of my body, weight loss, occasional numbness in legs and arms, pain in neck, lots of flus, colds, and so on...
But I think in almost all cases Harlequin is completely harmless and does not get worse over time, so my experience is not representative.
That said, I do believe that doctors seem to underestimate how often Harlequin goes along with a range of other symptoms. In internet forums you can read up that many affected people have a range of other conditions besides Harlequin, while in the medical papers they almost exclusively assessed individuals who solely have the Harlequin syndrome; research seems to focus on the slight differences between Harlequin, Horner, Aidie syndroms, and so on, thereby maybe missing the bigger picture.
Even after the diagnosis of Harlequin I have had a hard time to convince doctors that these other new symptoms are not just a coincidence, that I'm not making them up, and that something quite serious might go on. After all most doctors see only the symptoms which lie in their medical field, and if these are not too serious they fail to see urgency. Ironically this attitude of doctors to just placate things went better when I gathered enough other symptoms which became bad enough to be testable by laboratory tests.
kkrylee, I am not a doctor so my tips might be pointless. But I would try not to see only neurologists, but also a specialist in internal medicine. They might have a broader perspective and could help to exclude a range of conditions by performing blood and urine tests, etc. Quite likely they will not find anything, but at least then you know that your daughter has been thoroughly checked. If they find something, such laboratory results might be "harder facts" to start with than pure observations of symptoms.
I have Harlequin syndrome too, and made also the experience that it takes a while till you bump by chance into a doctor who knows the syndrome. Which is odd, because the symptoms are so strikingly specific (if you put in the right words in Google, you'll find it instantly). But I guess it is because it is such a rare condition.
I am 26 and had the typical Harlequin one-sided face flushing for the first time five years ago. First doctors told me that they don't know what it is, but they did some MRIs and said I should not worry. I then pretty much found out by myself that it is called Harlequin and went to see one of the doctors who wrote the article in the Nature (the first one cited by Heiferly), who knows probably relatively much about the syndrome. After many tests it turned out that I have a strange version of Harlequin, as in my case the side which turns red is the malfunctioning one, while usually in Harlequin the side which stays white is the broken (and the other side turns red to compensate for it). No causal factor could be found.
For me it went bad, my condition worsens and one condition after another gets added to the original Harlequin syndrome. By now I additionally have Sicca syndrome (dryness in eyes, mouth, nose), abdominal problems, a constant slight (but annoying) fever in most parts of my body, weight loss, occasional numbness in legs and arms, pain in neck, lots of flus, colds, and so on...
But I think in almost all cases Harlequin is completely harmless and does not get worse over time, so my experience is not representative.
That said, I do believe that doctors seem to underestimate how often Harlequin goes along with a range of other symptoms. In internet forums you can read up that many affected people have a range of other conditions besides Harlequin, while in the medical papers they almost exclusively assessed individuals who solely have the Harlequin syndrome; research seems to focus on the slight differences between Harlequin, Horner, Aidie syndroms, and so on, thereby maybe missing the bigger picture.
Even after the diagnosis of Harlequin I have had a hard time to convince doctors that these other new symptoms are not just a coincidence, that I'm not making them up, and that something quite serious might go on. After all most doctors see only the symptoms which lie in their medical field, and if these are not too serious they fail to see urgency. Ironically this attitude of doctors to just placate things went better when I gathered enough other symptoms which became bad enough to be testable by laboratory tests.
kkrylee, I am not a doctor so my tips might be pointless. But I would try not to see only neurologists, but also a specialist in internal medicine. They might have a broader perspective and could help to exclude a range of conditions by performing blood and urine tests, etc. Quite likely they will not find anything, but at least then you know that your daughter has been thoroughly checked. If they find something, such laboratory results might be "harder facts" to start with than pure observations of symptoms.
We have been fighting for a diagnosis for my 17 yr old daughter for over 1 year. She too gets the Harlequin syndrome along with every symptom found under dysautonomia. I don't think that it is as rare as they say. I think that doctors just don't recognize it when a patient tells them what happens. I have found that Neurologist are not very famliar with things that are considered "rare". We have seen 3 Neuros and 1 neurosurgeon and have not gotten a diagnosis. They just keep sending us to different doctors.
She has an abnomal tilt stating Orthostatic Hypotension with, literally, all of the symptoms listed under dysautonomia. I am now trying to find a dysautonomia clinic nearest to us in New Orleans.
I have one questiono if anyone can answer. My daughter skin since things started 4 yrs ago has become very pale, all of the time. Does anyone else have pallor as a symptom?
She has an abnomal tilt stating Orthostatic Hypotension with, literally, all of the symptoms listed under dysautonomia. I am now trying to find a dysautonomia clinic nearest to us in New Orleans.
I have one questiono if anyone can answer. My daughter skin since things started 4 yrs ago has become very pale, all of the time. Does anyone else have pallor as a symptom?
Hi,
I have Harlequin syndrome too, you can see one of my earlier posts on this forum as well. Definitely is a rare syndrome, and even the best neuros have seen few cases.
Read up on it, and definitely get checked out. Most cases are benign, but still you should go through the process of MRI's to rule everything out. I've been to a lot of doctors, and specialists in the field. Am always interested in touching base and comparing experiences with others that have this disorder.
Thanks!
I have Harlequin syndrome too, you can see one of my earlier posts on this forum as well. Definitely is a rare syndrome, and even the best neuros have seen few cases.
Read up on it, and definitely get checked out. Most cases are benign, but still you should go through the process of MRI's to rule everything out. I've been to a lot of doctors, and specialists in the field. Am always interested in touching base and comparing experiences with others that have this disorder.
Thanks!
http://www.nature.com/ncpneuro/journal/v1/n1/full/ncpneuro0040.html
(lists its sources--a great resource for researching a difficult topic, some articles are free; some you would need to get the journal articles from a medical or university library or purchase from the journal online, though reading the abstract of the article would be free)
jkms.kams.or.kr/2005/pdf/04329.pdf
(another good list of source articles from scholarly journals in the field)
Well, I guess many of these are good journal articles which provide resources for further research if you're willing to do the legwork, now that I look at them:
http://www.google.com/search?hl=en&client=firefox-a&rls=org.mozilla%3Aen-US%3Aofficial&hs=eEi&q=harlequin+syndrome+autonomic&btnG=Search
If you've never done scholarly research using journal articles before, I highly recommend calling the closest university with a medical school and asking to be transferred to the library. Explain to the librarian that you are trying to research a rare or "orphan" disease and that you were wondering if they had public access to the medical library to make copies of journal articles on-site. Once you're there, the librarians can be very helpful in showing you how to find journal articles in bound editions or on microfilm. For rare/orphan diseases, the internet often only holds a fraction of what can be found in the medical journals themselves; however, you can often *buy* the journal articles online in PDF format if you have the money to do so (costs much more than photocopies at the library), and know which ones you really want.
I hope that helps! Send me a direct message on MedHelp if I can be of further help, as I may not see a reply on this thread! Best wishes!!
(lists its sources--a great resource for researching a difficult topic, some articles are free; some you would need to get the journal articles from a medical or university library or purchase from the journal online, though reading the abstract of the article would be free)
jkms.kams.or.kr/2005/pdf/04329.pdf
(another good list of source articles from scholarly journals in the field)
Well, I guess many of these are good journal articles which provide resources for further research if you're willing to do the legwork, now that I look at them:
http://www.google.com/search?hl=en&client=firefox-a&rls=org.mozilla%3Aen-US%3Aofficial&hs=eEi&q=harlequin+syndrome+autonomic&btnG=Search
If you've never done scholarly research using journal articles before, I highly recommend calling the closest university with a medical school and asking to be transferred to the library. Explain to the librarian that you are trying to research a rare or "orphan" disease and that you were wondering if they had public access to the medical library to make copies of journal articles on-site. Once you're there, the librarians can be very helpful in showing you how to find journal articles in bound editions or on microfilm. For rare/orphan diseases, the internet often only holds a fraction of what can be found in the medical journals themselves; however, you can often *buy* the journal articles online in PDF format if you have the money to do so (costs much more than photocopies at the library), and know which ones you really want.
I hope that helps! Send me a direct message on MedHelp if I can be of further help, as I may not see a reply on this thread! Best wishes!!
You know when I first decided to research this I honestly didn't think I would find anything about it, nor did I even think there were others out there that had the same types of symptoms that I do. I can literally draw a line down my face where it's clearly divided with heat/cool. I sweat profusely on my left side and that side just turns very, very pink and it takes me a long time to get cooled off. For a long time I thought maybe I had clogged sweat glands but it just didn't make sense. Now that I have somewhere to start, I do plan to see a Neurologist because I would love to know "why" just like you. I would also love to know if there is any type of treatment. I have diabetes which compromises the immune system and I've got a couple of back injuries (one in my neck and one in my lower back). I've wondered if these things are contributing to this problem. I'm convinced that I do in fact have the Harlequin syndrome. I did look up the Horners syndrome but that didn't seem to fit. I've found that information on Harlequin syndrome is very hard to locate. Apparently there aren't too many people with this rare disorder or there would be more information out there. I would love to compare with you to see what we have in common to see if we could pinpoint something that links us to this condition. Your thoughts? Yes, please send anything you find because I'd love to read it. Also, I am female, I don't know your sex but I thought I'd throw that in there for comparison. Look forward to your response.
I guess I just had an Aha! moment when I saw that that neurological symptoms could be related to autoimmune. Maybe it was just a Der! moment, actually ;) . I really don't think the Neurologists have put 2 and 2 together either concering this particular disease. Thanks for your reply!
There are several diseases that can have these kind of symptoms. Harlequin Syndrome is one. Horner's Syndrome is another where you also have issues with drooping, sinking eyelid on the pale side. Also, pupil may be involved for either disorder. For Harlequin the face looks like it could be cut in two down the center with one pale and dry and other sweaty and red. This happens after exercise hot weather, blushing, exertion. I went to see a Neurologist and since it's so rare, she didn't know what it was. My next visit I came prepared with info. from http://rarediseases.info.nih.gov/ GARD (on this site) will answer your email questions about the disease. It's a good place to start. Basically, Most of the time the Neuro.s think it's a lesion somewhere in the cervical or thoracic spine. Sometimes they can find it and sometimes they can't. Rarely is it due to a more serious condition, but since it can be, you should probably see a Neurologist. All of the literature I've read states that it's a local problem, face and sometimes chest or arm. Possibly it could be related to autoimmunity and the Docs just don't know it yet. You are not the only person who has other seemingly unrelated symptoms, even though a Neuro may tell you so. I've been trying to find out "why" for over 6 months now, and between waiting for appts and insurance issues, it appears it will be awhile longer. I just signed up on another site called Rareshare.org. It's another info gathering and sharing site. I would be glad to pm you a list of websites I've used to get more info on this. I know how scarey and frustrating it can be to have this rare disease. Keep in touch!
I'm not sure if I have Harlequin Syndrome or not because I've not been diagnosed nor have I even seen a doctor about it. Recently I decided to do some research because I get easily overheated and sweat ONLY on one side of my face. The left side of my face turns 'pink' from the heat while the right side stays normal color and cool with no sweat at all. I do have periodic resltess legs and get out of breath very easily on steps. What type of doctor do you see about this condition? A Neurologist?
I have MS which caused my autonomic dysfunction. MS is considered an autoimmune disease, so I hope that this helps. Good Luck
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