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.

Moderator
Lisa Lucier, Moderator | @lisalucier | Apr 13, 2018

Thought you all might be interested to know that today's Connect Member Spotlight is about @kdubois: Changing Negatives to Positives: Meet @kdubois, https://mayocl.in/2EgP5tP.

REPLY
Mentor
Teresa, Volunteer Mentor | @hopeful33250 | Apr 12, 2018
In reply to @kdubois "Hi @lily2013, I experienced very, very similar facial swelling issues for several years.... very swollen face,..." + (show)
@kdubois

Hi @lily2013, I experienced very, very similar facial swelling issues for several years.... very swollen face, swollen and hard submental gland, back of my tongue extremely swollen, etc. I went to tons of doctors and had imaging that showed no cause or reason.

But we did figure out the cause and I now don't have any of these symptoms anymore. Mayo figured out that I have genetic polymorphisms that prevent me from properly-metabolizing most medications, and these facial symptoms (in addition to a laundry list of other symptoms around my body) were caused by my body too-slowly metabolizing medication that then slowly built up inside of me. During my time being sick from this, I was misdiagnosed with an endocrine condition and also had false autoimmune symptoms. To figure this out, I had to have pharmacogenomics testing performed.

Had you started any new medications prior to your symptoms starting?

Jump to this post

@oregongirl

I am so sorry to hear of your falls! Has your surgeon discussed follow up PT yet?

Teresa

REPLY
Texas Freedom | @oregongirl | Apr 11, 2018
In reply to @kdubois "Hi @lily2013, I experienced very, very similar facial swelling issues for several years.... very swollen face,..." + (show)
@kdubois

Hi @lily2013, I experienced very, very similar facial swelling issues for several years.... very swollen face, swollen and hard submental gland, back of my tongue extremely swollen, etc. I went to tons of doctors and had imaging that showed no cause or reason.

But we did figure out the cause and I now don't have any of these symptoms anymore. Mayo figured out that I have genetic polymorphisms that prevent me from properly-metabolizing most medications, and these facial symptoms (in addition to a laundry list of other symptoms around my body) were caused by my body too-slowly metabolizing medication that then slowly built up inside of me. During my time being sick from this, I was misdiagnosed with an endocrine condition and also had false autoimmune symptoms. To figure this out, I had to have pharmacogenomics testing performed.

Had you started any new medications prior to your symptoms starting?

Jump to this post

I am in hospital for 4rd time. Today I may go home. I was told in house theapy buy Dr had no orders. This time I fell front first and I am improving. It had been a long ride. I still have my independence. But think I will done how keep my phone on me.

REPLY
JK | @contentandwell | Apr 11, 2018
In reply to @kdubois "Hi @lily2013, I experienced very, very similar facial swelling issues for several years.... very swollen face,..." + (show)
@kdubois

Hi @lily2013, I experienced very, very similar facial swelling issues for several years.... very swollen face, swollen and hard submental gland, back of my tongue extremely swollen, etc. I went to tons of doctors and had imaging that showed no cause or reason.

But we did figure out the cause and I now don't have any of these symptoms anymore. Mayo figured out that I have genetic polymorphisms that prevent me from properly-metabolizing most medications, and these facial symptoms (in addition to a laundry list of other symptoms around my body) were caused by my body too-slowly metabolizing medication that then slowly built up inside of me. During my time being sick from this, I was misdiagnosed with an endocrine condition and also had false autoimmune symptoms. To figure this out, I had to have pharmacogenomics testing performed.

Had you started any new medications prior to your symptoms starting?

Jump to this post

@oregongirl Glad to hear you are recovering, sounds like a couple of really horrible falls. I broke a vertebra once and also had the procedure where they put cement in to fill it, kyphoplasty. It seemed to work well at the time but then a couple of weeks later I wrenched my back when I was about to slip and fall and I think I may have dislodged the cement because it was never the same after that and now I have a lump sticking out my back. You don't say if you are back to walking now but I presume you are. I hope you continue to improve and can get back to being your normal self soon.
JK

REPLY
JK | @contentandwell | Apr 11, 2018
In reply to @kdubois "Hi @lily2013, I experienced very, very similar facial swelling issues for several years.... very swollen face,..." + (show)
@kdubois

Hi @lily2013, I experienced very, very similar facial swelling issues for several years.... very swollen face, swollen and hard submental gland, back of my tongue extremely swollen, etc. I went to tons of doctors and had imaging that showed no cause or reason.

But we did figure out the cause and I now don't have any of these symptoms anymore. Mayo figured out that I have genetic polymorphisms that prevent me from properly-metabolizing most medications, and these facial symptoms (in addition to a laundry list of other symptoms around my body) were caused by my body too-slowly metabolizing medication that then slowly built up inside of me. During my time being sick from this, I was misdiagnosed with an endocrine condition and also had false autoimmune symptoms. To figure this out, I had to have pharmacogenomics testing performed.

Had you started any new medications prior to your symptoms starting?

Jump to this post

@kdubois Thanks Kelly. I just can't seem to fight this off, I presume due to the immunosuppressants. I was up a lot last night so I am about to go back to bed for a nap. This is really getting old.
JK

REPLY
Moderator
Lisa Lucier, Moderator | @lisalucier | Apr 10, 2018
In reply to @kdubois "Hi @lily2013, I experienced very, very similar facial swelling issues for several years.... very swollen face,..." + (show)
@kdubois

Hi @lily2013, I experienced very, very similar facial swelling issues for several years.... very swollen face, swollen and hard submental gland, back of my tongue extremely swollen, etc. I went to tons of doctors and had imaging that showed no cause or reason.

But we did figure out the cause and I now don't have any of these symptoms anymore. Mayo figured out that I have genetic polymorphisms that prevent me from properly-metabolizing most medications, and these facial symptoms (in addition to a laundry list of other symptoms around my body) were caused by my body too-slowly metabolizing medication that then slowly built up inside of me. During my time being sick from this, I was misdiagnosed with an endocrine condition and also had false autoimmune symptoms. To figure this out, I had to have pharmacogenomics testing performed.

Had you started any new medications prior to your symptoms starting?

Jump to this post

Oh, no, @oregongirl -- you sure have been through a rough time. I'm so sorry to hear this.

What did the doctor at the hospital say about your injuries? Are they connecting your fall with the procedure on your back or with medications following it?

REPLY
Texas Freedom | @oregongirl | Apr 10, 2018
In reply to @kdubois "Hi @lily2013, I experienced very, very similar facial swelling issues for several years.... very swollen face,..." + (show)
@kdubois

Hi @lily2013, I experienced very, very similar facial swelling issues for several years.... very swollen face, swollen and hard submental gland, back of my tongue extremely swollen, etc. I went to tons of doctors and had imaging that showed no cause or reason.

But we did figure out the cause and I now don't have any of these symptoms anymore. Mayo figured out that I have genetic polymorphisms that prevent me from properly-metabolizing most medications, and these facial symptoms (in addition to a laundry list of other symptoms around my body) were caused by my body too-slowly metabolizing medication that then slowly built up inside of me. During my time being sick from this, I was misdiagnosed with an endocrine condition and also had false autoimmune symptoms. To figure this out, I had to have pharmacogenomics testing performed.

Had you started any new medications prior to your symptoms starting?

Jump to this post

Sorry hit reply to early. Any wAy fell on my back and crushed 11 Vertabra. I spent a week in hospital and a surgeon visyed me. Would you like to walk and I said yes. He did a proceedure and put concrete in my crushed vertibrae. After proceedure he came to my room. Hevsaidvyouveill walk or you won't. I was helped up and asked. About three weeks later I fell forward on a ceramic floor. I fell head first. I either passed out temporarily. I woke up and called my son. Should have called 911. I was on Xeralto blood thinner. I passed out again. This time I looked like I had been beaten. I got to hospital. And do not remember fall. My daughter said my kitchen. Looked like a murder took place.. I am recovering.

REPLY
Texas Freedom | @oregongirl | Apr 10, 2018
In reply to @kdubois "Hi @lily2013, I experienced very, very similar facial swelling issues for several years.... very swollen face,..." + (show)
@kdubois

Hi @lily2013, I experienced very, very similar facial swelling issues for several years.... very swollen face, swollen and hard submental gland, back of my tongue extremely swollen, etc. I went to tons of doctors and had imaging that showed no cause or reason.

But we did figure out the cause and I now don't have any of these symptoms anymore. Mayo figured out that I have genetic polymorphisms that prevent me from properly-metabolizing most medications, and these facial symptoms (in addition to a laundry list of other symptoms around my body) were caused by my body too-slowly metabolizing medication that then slowly built up inside of me. During my time being sick from this, I was misdiagnosed with an endocrine condition and also had false autoimmune symptoms. To figure this out, I had to have pharmacogenomics testing performed.

Had you started any new medications prior to your symptoms starting?

Jump to this post

I had a fall in bedroom in dark. Fell on my back a crused

REPLY
Kelly, Alumna Mentor | @kdubois | Apr 10, 2018
In reply to @kdubois "Hi @lily2013, I experienced very, very similar facial swelling issues for several years.... very swollen face,..." + (show)
@kdubois

Hi @lily2013, I experienced very, very similar facial swelling issues for several years.... very swollen face, swollen and hard submental gland, back of my tongue extremely swollen, etc. I went to tons of doctors and had imaging that showed no cause or reason.

But we did figure out the cause and I now don't have any of these symptoms anymore. Mayo figured out that I have genetic polymorphisms that prevent me from properly-metabolizing most medications, and these facial symptoms (in addition to a laundry list of other symptoms around my body) were caused by my body too-slowly metabolizing medication that then slowly built up inside of me. During my time being sick from this, I was misdiagnosed with an endocrine condition and also had false autoimmune symptoms. To figure this out, I had to have pharmacogenomics testing performed.

Had you started any new medications prior to your symptoms starting?

Jump to this post

@contentandwell here's to hoping for as much healing as possible over the next few weeks!

REPLY
JK | @contentandwell | Apr 10, 2018
In reply to @kdubois "Hi @lily2013, I experienced very, very similar facial swelling issues for several years.... very swollen face,..." + (show)
@kdubois

Hi @lily2013, I experienced very, very similar facial swelling issues for several years.... very swollen face, swollen and hard submental gland, back of my tongue extremely swollen, etc. I went to tons of doctors and had imaging that showed no cause or reason.

But we did figure out the cause and I now don't have any of these symptoms anymore. Mayo figured out that I have genetic polymorphisms that prevent me from properly-metabolizing most medications, and these facial symptoms (in addition to a laundry list of other symptoms around my body) were caused by my body too-slowly metabolizing medication that then slowly built up inside of me. During my time being sick from this, I was misdiagnosed with an endocrine condition and also had false autoimmune symptoms. To figure this out, I had to have pharmacogenomics testing performed.

Had you started any new medications prior to your symptoms starting?

Jump to this post

@kdubois Kelly, on top of that I am battling a bad case of bronchitis that won't quit. I cough a lot and have a sore throat. If that is not better by the time of my appointment in a couple of weeks I simply won't be able to do it. It would be good to do it on that day because they scheduled it on the same day I have another appointment there.
JK

REPLY
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