Facial Swelling - no diagnosis

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

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

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!

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?

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!