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.

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Texas Freedom | @oregongirl | May 4, 2018
In reply to @lisalucier "Hi, @lily2013 -- just wanted to suggest you may want to call Mayo Clinic to talk..." + (show)
@lisalucier

Hi, @lily2013 -- just wanted to suggest you may want to call Mayo Clinic to talk to them about your scheduled appointments and your possible interest in seeing a different department, if that is something you wanted to pursue. I'd also really encourage you to talk to your doctor about the potential risks of stopping abruptly vs. weaning off your omeprazole.

Your thoughts?

Jump to this post

At the university I go to, for RA and now my back, blood work is done about a week before my appt. I also see oncologist . For study of blood work.

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Texas Freedom | @oregongirl | May 4, 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?

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I agree. I see so many specialists. Now and pain mgt to the list

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Gem | @gemmax | May 4, 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 Yes I am very much aware of the changes and they continue. It must be difficult for doctors too who are trained in one field and end up sending their patients off to innumerable specialists. Many hospitals use revolving ER personnel that are shared with other clinics and hospitals, so that means that the ER doc rarely has no clue who you are. I am blessed to have had the same doctor for 15 years, but I also see a number of others in a variety of fields. Sometimes zifeel as if that isall that i do. And that is enough to cause a peron to get depressed if they were not before!

REPLY
Gem | @gemmax | May 4, 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 Yes I sure will. I Just discovered an article on this. I have alot of health problems, but I did not connect them at all to Legionaires, except, of course, autoimmunity, which is a common and sadly lifelong result of having had a severe infection.

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JK | @contentandwell | May 4, 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

@gemmax By the way, if you do hear of any long term effects please let me know, I am definitely interested. I had no idea there might be any.
JK

REPLY
JK | @contentandwell | May 4, 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

@gemmax things were different in 1982. Now almost all PCPs work for the hospital, there are virtually no private practices anymore, so when you have something serious like Legionairre's you end up being treated by a changing stream of hospitalists, not the doctor whom you carefully chose and built a rapport with. When you go into the hospital, your PCP is "hands off". PCPs are now like businessmen, they work 9 - 5 and that's it. They actually have it better than most businessmen because they don't ever end up working overtime! I think it has made for less caring physicians.
You are right, now more than ever we need to be our own advocates.
JK

REPLY
Gem | @gemmax | May 4, 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 I agree with you in so many ways, but when I had Legionaires my small town doctor recognized it immediately, when it had been missed at large hospital. He started treatment immediately with three other doctors saying no they didn't think so. He insisted and saved my life. This was very early on when it was hard to diagnose and almost all who had it did not survive. 1982. After he died, I was helping his wife to get her books in order and I mentioned how he had saved my life and she told me that he read constantly, every new thing that came up, he was very reponsible that way, so I was blessed to have him. Lately, I’ve been doing some. reading about possible long term after affects of the disease. I don't know much yet, but plan to keep studying this. We definitely need to be our own advocates and to take casre with our families too.

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Gem | @gemmax | May 4, 2018

@lily2013, Hi. I have just joined this site, so I am hoping by now that you have a diagnosis. Reading your history is like reading my own early history. I have Sjogren's syndrome, which can be difficult to diagnose, does not always show anything in blood work and a great many doctors had never heard of it when I got sick and had no idea what ws wrong with me. Have you, since you posted, developed other symptoms besides the swelling? Such as dry eyes, dry nasal passages, dry mouth, painful mouth, etc. I am very interested to hear from you and very concerned for you, since I wish noone to go through the extended diagnosis process that I did. I have also been now diagnosed with other autoimmune illnesses.Be well!

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Moderator
Lisa Lucier, Moderator | @lisalucier | Apr 24, 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

Hi, @oregongirl -- how are you doing? Guessing you are still recovering from your fall?

REPLY
Texas Freedom | @oregongirl | Apr 13, 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

Yes at home. I totally felt as though they thought I was beaten and did not want to disclose it. What? I was so messed up in the face from falling forward. I fainted going down I guess. Blood all over my kitchen. My kids came and they said it looked like a murder took place. My doctor thought I may have had a seizure

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