Facial Swelling - no diagnosis after 2 years

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 group.

@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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This information is hard to ignore and the similarities are striking. Googling Omeprazole and facial swelling was a mind blower for me also! That never came up when I would google only facial swelling…. How fortunate that you had the sense to go to Mayo and have this testing! Having this testing done is imperative for me because the Rheumy I have been seeing has spoken to the fact that I have some kind of “gene mutation” that has caused this to happen. He also has referred to it as an immune deficiency, so I’m still a bit confused. I just did the calculations and I have actually been on a PPI for 15 years. I noticed back before this started that my face was starting to look bigger but it did not really resonate until 2015 when my glands where swollen too. I got a call from Mayo today and they want me to see an allergist/immunologist. When I called to make an appointment I believe they determined who I would see based on the ailment, mine being facial swelling. I’m wondering if that is the correct direction to go in or should I start somewhere else? I want to make the most of this visit because as many people do, I will be traveling there from another state. Regardless, I am going to stop taking the Omeprazole today. How long did it take for the swelling to subside after you stopped taking the PPI? Thanks so much again for providing me with this information if I am on the right track that gives me hope, if not it has given me encouragement that there are others that have dealt with tough heath issues and are persevering.

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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?

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@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?

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@lily2013 Hi, Lily and Lisa; I agree thoroughly with Lisa about her note. I believe the department you need to see in most clinics is hematology, but Mayo-MN has a slightly different mix than many other clinics. Just don’t let them push you around to a bunch of different folks until they first do the lab work, protein, urine, sFLC, etc. Martha Grogan and Angela Dispenzieri and Morey Gertz and Kumar know what they are doing.

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@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?

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Will call them to see if a different department will be a better fit for me. I have been coincidentally weaning off of Omeprazole since the beginning of January, but probably a good idea to check with my Gastro doc also… Thanks!

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@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?

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Definitely do not want to be pushed from department to department, that has been my life for the past 2 years. Been to Hematology also had a bone marrow biopsy thankfully clean. He thinks I have an autoimmune… 3 Rheumatologists say negative to that. Thanks for the names you provided it’s always helpful to have that information.

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@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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@kdubois You say that “omeprazole is known to be the worst inhibitor of all of the PPI drugs”. That does not sound good, which PPIs are better choices? I am on omeprazole, have been for quite a while due to Barrett’s Esophagus. After my liver transplant they doubled my dose for a while, now I am back to the 20mg. Everything I read about these drugs makes them sound very problematic to take in the long term but what are the alternatives?

I agree wholeheartedly that doctors outside of a major medical center, not just Mayo, are more aware and more doggedly seek a diagnosis than the doctors at smaller hospitals. I live outside of Manchester NH. I had Legionnaire’s disease in December. I feel quite certain that had I gone local the diagnosis would have stopped at pneumonia but at MGH they continued and discovered the Legionnaire’s, which requires a different antibiotic. I knew a woman in the Pacific northwest who died early this month from pneumonia, she became septic from what I was told. She was at a smaller local hospital. If she had been at a major medical center I suspect she would still be alive.
JK

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@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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@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

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@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

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@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.

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@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

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@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

@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.

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