1. < Autoimmune Diseases

Facial Swelling - no diagnosis

Posted by lily2013 @lily2013, Jan 22, 2018

The illness that I am about to write about has occurred over the last two years and is still ongoing. Two years ago this month I noticed the beginning of facial swelling. It started on both eyelids and then migrated to both cheeks and then to my Parotid glands. Within two months my face was noticeably puffy and swollen. To this day, the facial swelling is still there and NO other parts of my body have been affected.

Initial trips to my primary care physician, Emergency Room visits, two ENT’s and an allergist yielded zero results and no opinions of what was possibly wrong. Following that I made the decision to go to a holistic doctor. He ran multiple blood tests, allergy tests(high yeast count which prompted him to put me on the Candida diet; this did nothing), thyroid tests (low Normal results, he suggested Synthroid but recommended the diet initially). Acknowledging that there may be something bigger than he could handle he recommended me to a special diagnostic clinic at Emory Hospital in Atlanta.

The unit at Emory consisted of a number of specialists who saw patients with undiagnosed conditions. The disciplines they represented included; ENT, Hematologist, Rheumatologist, Endocrinologist, Immunologist. Over the course of three months I had individual appointments with each group. The bloodwork that each doctor ordered came back with no indication of any illness outside of a low white blood count and low platelet count. As part of this process I also had chest x-rays, biopsy of sub-mandibular gland, head and neck CT scan, Bone marrow biopsy which also came back normal. I left Emory because they told me that they couldn’t identify what was wrong with me and frankly didn’t have any defined next steps.

I then decided to go to an infectious disease doctor and all of the tests that were run came back negative; Lymes disease, infections etc… The doctor could clearly see my facial swelling and she recommended that I go back to a rheumatologist, which I did.

The Rheumy, who I have been going to for the last 5 months, reviewed all of my past history of blood test results and previous doctor’s notes. He diagnosed me with what he termed an immune deficiency which he felt was manifesting as an auto-immune disease, even though all my blood work never revealed any markers for any known auto-immune diseases and I don’t exhibit any symptoms from the neck down. He prescribed a course of Prednisone over a 6-week period/20mg/10mg/5mg (facial swelling was extremely responsive and face looked normal BUT swelling returned within three days of going off the steroids). He then prescribed plaquenol with a low dose of prednisone(5mg) which I have been on for 90 days now and the swelling has not gone away. My Rheumy has mentioned going on either, Azathioprine, Methatrexate or Sulfasalazine to see what that would do but I have opted not to because I feel that I need a valid diagnosis prior to taking any drug like that.

I am not sure if this is truly a rheumatological or an endocrine issue. I have exhibited zero markers for a rheumatological disease and only a low normal for thyroid disease. I am writing to see if anyone out there has experienced a similar situation, I am at a total loss as to where to go next. Any shared thoughts and ideas are welcome.

Interested in more discussions like this? Go to the Autoimmune Diseases Support Group.

Ethan McConkey, Moderator | @ethanmcconkey | Jun 18, 2019

Hi @hopingforanswer and welcome to Connect. You may have noticed I moved your post to this existing Facial Swelling discussion so that you can see what others have said about this with similar symptoms and experience. Simply click VIEW & REPLY in your email notification to get to your post.

This facial swelling must be so frustrating and even more nerve wracking as your wedding approaches.

I wanted to tag fellow Connect members @ginjax28 @jessicap42 and @keithwalker as they have had similar experience and may be able to offer you support.

Back to you @hopingforanswer how long has this swelling been going on?

REPLY
JK | @contentandwell | Jun 18, 2019
In reply to @hopingforanswer "My face keeps swelling up and I don’t know why. I have allergies and have been..." + (show)
@hopingforanswer

My face keeps swelling up and I don’t know why. I have allergies and have been through testing- tree pollen, cherries, but it’s a distinct different feeling than this unexplained swelling and antihistimines don’t help. This swelling can last longer than a week. Prior to it my lymph nodes typically swell, but it normally takes a day before I show signs in my face. I’ve also occasionally run a low grade fever prior to it as well. I do not have any itch, I just feel tired and like there’s pressure on my face. I’ve been through an exact examination with my doctor of everything I come into contact with (body wash, shampoo, facial wash, hand soap, makeup, detergent, food, pets- I don’t have any or any I’ve been around and we can’t find any trigger). I am worried that something more serious could be going on and also for superficial reasons am worried I could be like this when I get married in August. I have not been able to get any answers from primary, allergist, or dermatologist. They say it has to be something random I’m coming into contact with. Other health history for consideration- I’ 31 and was tested for cystic fibrosis a few years back due to unexplained wheezing, modules in my lungs and reoccurrence of pleurisy, bronchitis, pneumonia, sinus infections and stomach problems. I had an intermediate sweat test, given creon for pancreatic insufficiency, but they did not identify disease causing mutations through genetic testing. I also have a lymph node in my right parotid which we’re monitoring. I woke up this morning fully swollen again and I’m just not sure what to so here I am on this board seeking suggestions. Thank you for your time and consideration.

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@hopingforanswer Hi. First, let me welcome you to Connect. I have not heard of your problem so I have nothing helpful to contribute, but I hope someone out there may have had similar experiences. I know too well that some symptoms can be related to something totally different that you would never imagine. For instance, prior to being diagnosed with non-alcoholic cirrhosis my hands were shaking badly. The doctor said it was essential tremor, but it was not, it was from the cirrhosis. Not even the doctors connected that despite it being a typical cirrhosis symptom.

I don't see where are from, but if you are relying on local doctors, I suggest you make the effort to go to a major medical center, preferably a teaching hospital. They see so much more, so they know more. I live in southern NH and my local doctors were mystified by my symptoms, it took a very long time for a diagnosis. I now know if I have anything mysterious again I will head straight to Boston. At this point I go there for most of my specialty care.

I know how self-conscious you must be about this, you want to look the way you look without the swelling, but I do want to tell you that for someone who does not know you otherwise you are still a very attractive young woman. I would not look at you and think that your face was swollen.

I sincerely hope you are able to find the cause of your swelling and get it remedied. Please let us know if you do find anything out.
By the way, my under eye area tends to be very puffy looking and I have come to realize that if I can make myself sleep on my back it is much less so. I have no idea, but perhaps the way you are sleeping could exacerbate it?

Again, please do get back to us. We on Connect really do care when we hear stories such as yours.
JK

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ginjax28 | @ginjax28 | Jun 18, 2019

Thank you - I have been to Jewish National Hospital & have a very good neurologist also. I use a very smart functional med. dr. & he is the one who is getting me back on track more so than any of the other drs. I refuse to take the poison that specialist in Denver wans me on. I am doing much better now but still have to continue to strictly monitor my diet & use natural remedies, no exercise besides walking as it brings my heart rate up to high & my mast cells start dumping to much histamine into my bloodstream. It is a very confusing health issue but I would be very ill right now if not for the functional med. dr.

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jaeterese | @jaeterese | Jun 19, 2019
In reply to @kanaazpereira "Hi @lily2013, Thank you for sharing your history; I can only imagine how stressful this must..." + (show)
@kanaazpereira

Hi @lily2013,

Thank you for sharing your history; I can only imagine how stressful this must be! I'm tagging @momij @cahnny who've posted about "moon face" or facial swelling you've described, and I hope they return with some information that might help.

I certainly don't wish to add to your worry, and I'm glad that you are thinking of contacting Mayo Clinic, but I'd also encourage you to read this information about Cushing syndrome: https://www.mayoclinic.org/diseases-conditions/cushing-syndrome/symptoms-causes/syc-20351310
I've copied some details for your convenience:

"Cushing syndrome can also occur when your body makes too much cortisol on its own. Too much cortisol can produce some of the hallmark signs of Cushing syndrome — a fatty hump between your shoulders, a rounded face, and pink or purple stretch marks on your skin.
Diagnosing Cushing syndrome can be a long and extensive process. You may not have any firm answers about your condition until you've had a series of medical appointments. Your doctor will conduct a physical exam, looking for signs of Cushing syndrome. He or she may suspect Cushing syndrome if you have signs such as rounding of the face (moon face), a pad of fatty tissue between the shoulders and neck (buffalo hump)..."

@lily2013, if you would like to make an appointment at Mayo Clinic, please call one of our appointment offices. You can also request an appointment online. The contact information for Minnesota, Arizona and Florida can be found here: http://www.mayoclinic.org/appointments

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Dear lilly2013, Please look into what this person wrote to you. Do you have any other gauge symptoms, or perhaps unexplained weight gain, esp above the waist? Cushing disease and Cushing syndrome are not common and thus can be undetected.

REPLY
hopingforanswer | @hopingforanswer | Jul 24, 2019

@ethanmcconkey thank you for connecting me on this chain. We recently realized that my symptoms seem to coincide with the beginning of my menstrual cycle (it has been happening at least once a month for six months, progressively getting worse, most dominant on the right side and I also get a rash on my elbows- not sure if this is related). Before the swelling starts, I feel a painful burning of my skin and it becomes extremely red/purple. It can appear as a butterfly rash, but lupus was ruled out via testing. I went to a rheumatologist for extensive testing. Most recently my allergist immunologist suggested that I be tested for something rare called autoimmune progesterone dermatitis in which the body has an autoimmune response to the body’s own progesterone. If this is truly what I have it’s treatable, but the bad news is that I am a month from my wedding and if I have this I will have a major flare up right before which would cause discomfort and potentially swollen shut eyes. My immunologist wants me tested for Autoimmune Progesterone Dermatitis which apparently is a straightforward test in which I’d have a progesterone skin prick test, but so far we can’t find anyone who is familiar with the condition and will do the test for me. I’m feeling desperate because I’m experiencing symptoms right now and am in a window of a couple of days where if it is this could start a treatment plan which could help control my flare up at my wedding.

REPLY
1 reply
JK | @contentandwell | Jul 24, 2019
In reply to @hopingforanswer "@ethanmcconkey thank you for connecting me on this chain. We recently realized that my symptoms seem..." + (show)
@hopingforanswer

@ethanmcconkey thank you for connecting me on this chain. We recently realized that my symptoms seem to coincide with the beginning of my menstrual cycle (it has been happening at least once a month for six months, progressively getting worse, most dominant on the right side and I also get a rash on my elbows- not sure if this is related). Before the swelling starts, I feel a painful burning of my skin and it becomes extremely red/purple. It can appear as a butterfly rash, but lupus was ruled out via testing. I went to a rheumatologist for extensive testing. Most recently my allergist immunologist suggested that I be tested for something rare called autoimmune progesterone dermatitis in which the body has an autoimmune response to the body’s own progesterone. If this is truly what I have it’s treatable, but the bad news is that I am a month from my wedding and if I have this I will have a major flare up right before which would cause discomfort and potentially swollen shut eyes. My immunologist wants me tested for Autoimmune Progesterone Dermatitis which apparently is a straightforward test in which I’d have a progesterone skin prick test, but so far we can’t find anyone who is familiar with the condition and will do the test for me. I’m feeling desperate because I’m experiencing symptoms right now and am in a window of a couple of days where if it is this could start a treatment plan which could help control my flare up at my wedding.

Jump to this post

@hopingforanswer You really are in a time crunch. I hope you can find someone to do the testing quickly and are able to not have concerns on your wedding day. If necessary you may have to travel a distance but it sounds as if finding the cause and being able to take care of it is a very high priority for you. Do what you need to do and hope for the best.
JK

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svo1 | @svo1 | Jul 25, 2019

Is it possible for you to travel to a Mayo Clinic location?

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hopingforanswer | @hopingforanswer | Jul 25, 2019

I absolutely would if I knew I’d be thoroughly evaluated and tested.

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1 reply
Mentor
John, Volunteer Mentor | @johnbishop | Jul 25, 2019
In reply to @hopingforanswer "I absolutely would if I knew I’d be thoroughly evaluated and tested." + (show)
@hopingforanswer

I absolutely would if I knew I’d be thoroughly evaluated and tested.

Jump to this post

@hopingforanswer -- Mayo Clinic is very good at diagnosing difficult to diagnose health conditions using their patient centered approach. Here's some information on their patient centered care - http://history.mayoclinic.org/toolkit/mayo-clinic-model-of-care.php

If you would like to seek help from Mayo Clinic, contact one of the appointment offices. The contact information for Minnesota, Arizona and Florida can be found here http://mayocl.in/1mtmR63.

REPLY
hopingforanswer | @hopingforanswer | Jul 25, 2019

Thank you, I’m going to call and see what they say.

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