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Facial Swelling - no diagnosis
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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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!
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3 Reactions@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
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3 ReactionsThanks 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.
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2 ReactionsHello @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
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2 ReactionsHello @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
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