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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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 I have a problem with gagging, too. I hate doing the manometry, but it must be done. Yes.. time will tell.

REPLY
JK | @contentandwell | Mar 31, 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 I am happy to be involved in the study even though it does mean more frequent trips to Boston. I am a bit nervous about how I will react to them lowering a tiny camera down my throat on a string. The camera is about the size of pill capsule but the string could be annoying and cause me to gag. Time will tell.
JK

REPLY
Kelly, Alumna Mentor | @kdubois | Mar 30, 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 my mom has Barrett's Esophagus, and it can be a real struggle sometimes. I think you are correct that it can limit the possibility of having a nissen, but it may also depend on the degree of the Barrett's. Mayo tested me for Barrett's because if I did have a somewhat malfunctioning esophagus, they would have limited my wrap to 270 degrees instead of 360 degrees.

Yay for doing the study! That implementation of technology sounds very fruitful. I'm taking part in a study for Mayo for my nissen surgery, too. I figure if whatever they find from us can help other people in the long run, then it's totally worth it.

REPLY
JK | @contentandwell | Mar 30, 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, I had to look up "nissen fundoplication", I had never heard of that. I have Barrett's Esophagus so I don't know if that would be an appropriate treatment for that or not. It became obvious after my cirrhosis was finally diagnosed, that I had it long before I started taking omeprazole, so that was not a cause. I also do really worry about long term effects.

Interestingly, I got a letter from MGH yesterday asking me to take part in a study for Barrett's. I plan to take part it. They follow you for four years during which time they do an annual examination via a high resolution cameral that they lower into your esophagus. It apparently is a better tool than what they can see with an endoscopy. During that time I am to have two endoscopies also.

JK

REPLY
oldkarl | @oldkarl | Mar 28, 2018

@lily2013 Hi, Lily.. The old disease, known as "Moon Face Disease" has been around for a long time. I just learned that was in my family around a couple centuries ago, but by different names. Anyway, Mayo and others have good write-ups on it. It seems to be related to MM and bovine encephalopathy. I think I would give them a look-see.

REPLY
Kelly, Alumna Mentor | @kdubois | Mar 28, 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 the nissen fundoplication that Mayo performed on me went perfectly, and I haven't had to take any PPIs or H2 antagonists since!

I would hypothesize that these drugs could likely have been why you experienced liver problems. Gad to hear that your new liver is working perfectly!

I am concerned about long-term effects fo the drugs that built up in my system, as well. I have 12 years and 80 pounds worth of unmetbaolized meds inside of me... frankly, I'm surprised that I have recovered as much as I have, but I try to remain realistic about what this did to me internally.

REPLY
JK | @contentandwell | Mar 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

@kdubois Kelly, so are you taking a PPI now? I was first on omeprazole and that bothered me, then I tried two different PPIs and they bothered me even more so I went back to the omeprazole and it gradually stopped giving me any problems at all. I need to take something apparently since I have Barrett's Esophagus.
When all of these drugs really bothered me I had undiagnosed non-alcoholic cirrhosis so apparently my liver was having trouble metabolizing them. Thankfully, with a new liver I have absolutely no problem but I am still concerned about long-term effects.
JK

REPLY
Kelly, Alumna Mentor | @kdubois | Mar 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

@contentandwell I apologize for the delay in responding. There are many PPIs out there, and I figured out which most- and least-negatvily affected me by taking them. Omeprazole was the worst and I was able to find many articles online supporting my physical findings. With it said that all PPIs make me sick, the PPI that gave me the least symptoms was actually Nexium (esomeprazole). Everyone is different though.

REPLY
JK | @contentandwell | Jan 27, 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

@hopeful33250 An online friend in northern CA died in the beginning of January from pneumonia that led to sepsis. She was at a smaller, local hospital. I can't help but wonder if she had been brought to one of the major medical centers in SF she would still be alive. It was a real shock to find out she had passed away, she was a really vibrant person.
JK

REPLY
Mentor
Teresa, Volunteer Mentor | @hopeful33250 | Jan 27, 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, there is much to be said about going to a more sophisticated health care facility. It does make a difference. I'm glad that you got the right diagnosis and treatment for the Legionnaires. Teresa

REPLY
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