Share this:
lily2013
@lily2013

Posts: 9
Joined: Jan 19, 2018

Facial Swelling - no diagnosis after 2 years

Posted by @lily2013, Mon, Jan 22 6:22pm

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.

Liked by Gem

REPLY

Hello @lily2013 — welcome to Mayo Connect. I’m glad you found us and I’m hoping another Connect member that has had similar symptoms will see your post and respond. I have no medical training or background but there are so many autoimmune diseases out there that it sure sounds like a possibility. I have polymyalgia rheumatica (PMR) and the drug of choice is prednisone. I’m in my second occurrence of PMR and the first time it took me three years to taper off of prednisone, the last six months going back and forth between 1 mg and 1/2 mg dose until I could be off of the drug and not have the associated pain that comes with PMR. The PMR went into remission for 6 years and popped up again a little over a year ago. Both times I was started on a 20 mg dosage and tapered by 5 mg a month unless I had pain when tapering then I reduced the tapering amount by using 1 mg or 2.5 mg tablets. I’m wondering if the swelling goes away when you go on prednisone maybe you just have to taper slower until the see how long it takes or how low a dosage it takes before the swelling is gone.

I don’t know if it’s a possibility but Mayo Clinic uses a team approach with a team of specialists and are very good at diagnosing hard to diagnose health problems. If you would like to seek help from Mayo Clinic, please call one of our appointment offices. The contact information for Minnesota, Arizona and Florida can be found here: http://mayocl.in/1mtmR63.

I thought you might find this video interesting since it’s about trying to figure out what is causing a health problem:

What happens when you have a disease doctors can’t diagnose TED talk by TED Fellow Jennifer Brea who became progressively ill with myalgic encephalomyelitis, commonly known as chronic fatigue syndrome.

https://www.ted.com/talks/jen_brea_what_happens_when_you_have_a_disease_doctors_can_t_diagnose

John

Hello @lily2013 and I’d also like to welcome you to Mayo Connect.

I really admire your perseverance and diligence to seeking an answer to this unique disorder. You have worked hard and been a good advocate for yourself in seeking out a diagnosis. I can only imagine how frustrated you must feel after working so hard to find an answer and still having the same problem.

John has offered some good suggestions. Since you have been down so many other roads seeking a diagnosis, a trip to a Mayo facility might certainly be worth a try.

Just as a thought, have any other family members had any autoimmune disorders, like Lupus, Rheumatoid Arthritis? Also, when this problem started 2 years ago, had you recently moved, been in an accident, or had some other life changing event?

We wish you well as you continue to seek an answer. We hope that another Member can post with you about a similar problem. In the meantime, we will seek to support and encourage you.

Teresa

@hopeful33250

Hello @lily2013 and I’d also like to welcome you to Mayo Connect.

I really admire your perseverance and diligence to seeking an answer to this unique disorder. You have worked hard and been a good advocate for yourself in seeking out a diagnosis. I can only imagine how frustrated you must feel after working so hard to find an answer and still having the same problem.

John has offered some good suggestions. Since you have been down so many other roads seeking a diagnosis, a trip to a Mayo facility might certainly be worth a try.

Just as a thought, have any other family members had any autoimmune disorders, like Lupus, Rheumatoid Arthritis? Also, when this problem started 2 years ago, had you recently moved, been in an accident, or had some other life changing event?

We wish you well as you continue to seek an answer. We hope that another Member can post with you about a similar problem. In the meantime, we will seek to support and encourage you.

Teresa

Jump to this post

Thanks for your response and to answer your questions yes I do have family members with Lupus and Connective Tissue Disorder. The doctors are well aware of that and I have been tested extensively for Lupus and IGG4 and other sub classes of that.
Interestingly I did move into a new home that we visit probably 2 times a month for about 8 days. We bought the home in October and this happened in January. Not sure if there is any relevance since previous to that we owned a home very close by the new one. I am going to look into coming to the Mayo clinic for help with this problem. Thanks again.

@lily2013

We appreciate your response and we wish you well. In your home, is there well water or is the house located near any environmental hazards? Was there any pre-sale inspection of the house for hazards of any type (thinking of environmental or underground hazards specifically)?

We hope that you come up with an answer soon. Will you keep in touch with us and let us know how you are doing?

Teresa

@johnbishop

Hello @lily2013 — welcome to Mayo Connect. I’m glad you found us and I’m hoping another Connect member that has had similar symptoms will see your post and respond. I have no medical training or background but there are so many autoimmune diseases out there that it sure sounds like a possibility. I have polymyalgia rheumatica (PMR) and the drug of choice is prednisone. I’m in my second occurrence of PMR and the first time it took me three years to taper off of prednisone, the last six months going back and forth between 1 mg and 1/2 mg dose until I could be off of the drug and not have the associated pain that comes with PMR. The PMR went into remission for 6 years and popped up again a little over a year ago. Both times I was started on a 20 mg dosage and tapered by 5 mg a month unless I had pain when tapering then I reduced the tapering amount by using 1 mg or 2.5 mg tablets. I’m wondering if the swelling goes away when you go on prednisone maybe you just have to taper slower until the see how long it takes or how low a dosage it takes before the swelling is gone.

I don’t know if it’s a possibility but Mayo Clinic uses a team approach with a team of specialists and are very good at diagnosing hard to diagnose health problems. If you would like to seek help from Mayo Clinic, please call one of our appointment offices. The contact information for Minnesota, Arizona and Florida can be found here: http://mayocl.in/1mtmR63.

I thought you might find this video interesting since it’s about trying to figure out what is causing a health problem:

What happens when you have a disease doctors can’t diagnose TED talk by TED Fellow Jennifer Brea who became progressively ill with myalgic encephalomyelitis, commonly known as chronic fatigue syndrome.

https://www.ted.com/talks/jen_brea_what_happens_when_you_have_a_disease_doctors_can_t_diagnose

John

Jump to this post

Hi John,
Thanks for sharing your thoughts and experience on prednisone with me. It’s scary how effective 10 mg is when it comes to alleviating the swelling in my face. Presently I am at 5mg daily and that just barely keeps it at bay. I’m going to try and contact the Mayo clinic for help as I don’t know where to go from here. I wish you the best with your PMR hoping you can be pain free soon!

@johnbishop

Hello @lily2013 — welcome to Mayo Connect. I’m glad you found us and I’m hoping another Connect member that has had similar symptoms will see your post and respond. I have no medical training or background but there are so many autoimmune diseases out there that it sure sounds like a possibility. I have polymyalgia rheumatica (PMR) and the drug of choice is prednisone. I’m in my second occurrence of PMR and the first time it took me three years to taper off of prednisone, the last six months going back and forth between 1 mg and 1/2 mg dose until I could be off of the drug and not have the associated pain that comes with PMR. The PMR went into remission for 6 years and popped up again a little over a year ago. Both times I was started on a 20 mg dosage and tapered by 5 mg a month unless I had pain when tapering then I reduced the tapering amount by using 1 mg or 2.5 mg tablets. I’m wondering if the swelling goes away when you go on prednisone maybe you just have to taper slower until the see how long it takes or how low a dosage it takes before the swelling is gone.

I don’t know if it’s a possibility but Mayo Clinic uses a team approach with a team of specialists and are very good at diagnosing hard to diagnose health problems. If you would like to seek help from Mayo Clinic, please call one of our appointment offices. The contact information for Minnesota, Arizona and Florida can be found here: http://mayocl.in/1mtmR63.

I thought you might find this video interesting since it’s about trying to figure out what is causing a health problem:

What happens when you have a disease doctors can’t diagnose TED talk by TED Fellow Jennifer Brea who became progressively ill with myalgic encephalomyelitis, commonly known as chronic fatigue syndrome.

https://www.ted.com/talks/jen_brea_what_happens_when_you_have_a_disease_doctors_can_t_diagnose

John

Jump to this post

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

@lily2013 Hi, Lily.Your situation is very interesting, but I believe there is hope of some understanding, and perhaps relief. You mention there are others in the family with connective tissue diseases, Lupus, etc. Are these folks in your own blood line? If they are, there is a much higher chance your disorder is autoimmune, probably some connective tissue disorders such as hATTRwt (hereditary Amyloidosis TransThyRetin wild type). Hereditary because it is in the blood line, Amyloidosis, TransThyRetin because it is transported around the body by Thyretin in the blood stream, and Wild Type because no one can predict what form or mutation of it will appear when it does show itself. I assume you have had at least two SERUM FreeLite Chain assays. If either assay results were over 1.4, this some form of FreeLiteChain could be your problem just showing up. And if your 24-hour urine collection/protein assay shows over about 0.3 gram per day, more evidence of FreeLiteChain. I assume your ANA and BUN results showed no autoimmune issues. In my family line, there are folks with Lupus, Crohn’s, Apolipoprotein, AL, hATTRwt. One sister and her daughter have died of hATTRwt, Another has just been diagnosed with Lupus at 70, Some cousins and other relatives have the issue. Another has a mutation that looks like Gelsolin, mine is closer to Cystatin-C. Any, don’t worry too much if the doctors are very slow to diagnose this. It starts with a single atom before birth, and spreads over your body like a slow freighter. For most of us with systemic, it does not seem to take over our body until our 5th or 6th decade. Mine, however, started very early, but we did not recognize it until just after my 75th birthday. Be patient and keep asking questions. Mayo videos are perhaps the best source of quick information. I bought a book written by Morey Gertz and staff ten years ago, but it is still the gold standard, “Amyloidosis — Diagnosis and treatment” Lots of things have changed, especially the diagnosis by atom-force microscope and other high tech devices. But it is still tough to dX. But just one more note: There is another syndrome, the “Evans Syndrome” which is very similar, but shows no high protein in the blood. Mayo and Wikipedia have good articles on it. This is a real possibility for you, I believe. Any Welsh in your blood line?

@lily2013 Hi Again, Lily. I have just done some study on your facial swelling, and I think I have found the name of the disorder. It is probablya Light Chain deposition, although some say it is a primary systemic amyloidosis. “Localized Cutaneous Amyloidosis. It can be monitored for several years without the need for therapy. Treatment may be recommended for patients with severe pruritus or for cosmetic reasons. The type of therapy will depend on the form of amyloidosis. Deposits of nodular primary cutaneous amyloidosis can be excised surgically or treated with carbon dioxide laser”. There is a lot more on this on “Amyloidosis – Diagnosis and Treatment”, ed. by Morey Gertz, Mayo-MN, with papers by Angela Dispenzieri and others. It is available through any bookstore. It is expensive, but there is much info in it. I won’t bother quoting a lot more of it. Your doctor and you can contact Mayo-MN, Mass General, Sloan-Kettering, etc, for info, but my first step would be find out what Mayo Videos and writings have about this. It is a “Lichen Amyloidosis”, while mine is “Macular”. If you treat it in almost any way, it will re-occur. Antihistamines, corticosteroids, etretinate, and others have been used. DMSO 50% in water may have some benefit. Sometimes it progresses to systemic amyloidosis years later. In any case, you have a lot to learn about, now. old karl https://bit.Ly/1w7j4j8 Amyloidosis

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?

@oldkarl

@lily2013 Hi Again, Lily. I have just done some study on your facial swelling, and I think I have found the name of the disorder. It is probablya Light Chain deposition, although some say it is a primary systemic amyloidosis. “Localized Cutaneous Amyloidosis. It can be monitored for several years without the need for therapy. Treatment may be recommended for patients with severe pruritus or for cosmetic reasons. The type of therapy will depend on the form of amyloidosis. Deposits of nodular primary cutaneous amyloidosis can be excised surgically or treated with carbon dioxide laser”. There is a lot more on this on “Amyloidosis – Diagnosis and Treatment”, ed. by Morey Gertz, Mayo-MN, with papers by Angela Dispenzieri and others. It is available through any bookstore. It is expensive, but there is much info in it. I won’t bother quoting a lot more of it. Your doctor and you can contact Mayo-MN, Mass General, Sloan-Kettering, etc, for info, but my first step would be find out what Mayo Videos and writings have about this. It is a “Lichen Amyloidosis”, while mine is “Macular”. If you treat it in almost any way, it will re-occur. Antihistamines, corticosteroids, etretinate, and others have been used. DMSO 50% in water may have some benefit. Sometimes it progresses to systemic amyloidosis years later. In any case, you have a lot to learn about, now. old karl https://bit.Ly/1w7j4j8 Amyloidosis

Jump to this post

Again thanks for your efforts, I am so appreciative of you taking the time to help me out. I have a lot of reading to do!

@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

Wow, you are the first person that I have spoken to that has had these symptoms, I am taken aback. The only medication that I may have started at the time would be Allegra. I took Aciphex for over 10 years and switched to the generic which is Omeprazole during that time frame I believe. I have sent my medical records into Mayo and am waiting for a response about my next steps. Do you have any suggestions? How was your issue resolved after they discovered the reason?

@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

@lily2013, I think we may be on to something. I was on Nexium (or its PPI equivalents) for 12 years. All proton pump inhibitors are metabolized by the same liver enzyme (gene) called CYP2C19, and all of these drugs also inhibit this very enzyme (i.e., the enzyme that the drug itself needs to be metabolized). This means that the drug itself actually slows down the body’s metabolization of these drugs. (I know… it sounds crazy.)

But here’s the thing… omeprazole is known to be the worst inhibitor of all of the PPI drugs. (I always tell people that not all PPIs are created equally.)

The reason I became so ill from taking PPIs, especially omeprazole, is that I have a cytochrome P450 liver enzyme polymorphism (genetic mutation) of the CYP2C19 liver enzyme (gene). By nature, instead of being a Normal metabolizer for the gene, I am an Intermediate metabolizer which means my metabolism of any drug metabolized by CYP2C19 will be always slower than intended — but because PPIs inhibit the CYP2C19 gene, the drug itself knocked me down yet another notch and made me a Poor metabolizer of the drug. The more I took the drug, the more it slowly built up on my system. And we know this absolutely happened with PPIs because back in 2004, a PPI was the ONLY medication I was taking, and within two months of taking it, I started gaining body wide weight, all of my photos from that time period make it clear that my face starting swelling up, etc.

I would ask to be referred to Mayo’s Center for Individualized Medicine’s Pharmacogenomics group for a consultation and testing or ask a Mayo doctor to order pharmacogenomics testing from OneOme.com. (OneOme is a private pharmacogenomics testing company owned by Mayo.) Testing via OneOme will likely be less expensive, but they cannot provide the consultative services that Mayo can provide. Medical insurance usually does not cover the costs. My nine gene test at Mayo back in March 2016 cost a little under $2,900. A year later in March 2017, one of my Mayo doctors ordered me OneOme’s 22-gene test, and it cost only $249. (If you live in a state that has certified OneOne, any doctor in that state can order the test, as well.)

Not only did Mayo figure out that I have this CYP2C19 intermediate metabolizer polymorphism, but they figured out that I have a TON of other drug metabolism polymorphisms as well, and this slew of different meds building up in my system over time almost killed me. Had I not taken myself to Mayo and then asked to be evaluated for drug issues, I believe that I would have passed away in 2016 and not a single healthcare provider at my home medical center would have had a clue what happened.

To stop the symptoms, I had to stop the medications that I don’t properly metabolize, but then you have to figure out how to treat the medical issues without drugs or find alternative drugs. For my GI issues, the solution was to have a Nissen Fundoplication surgery to fix my hiatal hernia and GERD issues. I had this surgery in October 2016 at Mayo Clinic, and I haven’t had even a single bout of heartburn since.

One thing to warn you about though, and I hate saying it this way, but doctors outside of Mayo are generally ignorant to how the cytochrome P450 enzyme system functions, how polymorphisms of the P450 liver enzymes affect drug metabolism, etc., but pharmacists know about this especially younger pharmacists.

@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

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.

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?

@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

@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.

Please login or register to post a reply.