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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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You are so welcome…..any time! You are clearly brave and determined so you’ll figure it out!!!….God Bless!!
Thank you for sharing the information and what you are going through. I will look into everything. It might be my teeth causing the swelling. Doctor has no answers. I hope you stick to your plan and remain healthy.
I would say you have Mast Cell Activation just like I do. All the things you have mentioned I’ve gone through over the course of a year. My face was so swollen and with every wrong thing I ate or put on it, it flared up to pop these bizarre bumps on my face. That I broke open I might add and all of it was like open skin that the skin would not reunite over the the hole. It was all about histamine and histamine overload. Regular medical people are without skill sets for this. You have to do all the research but I would start with Dr. Beth O’Hara’ssite and Dr. Amy Campbell. I have a lot of other sites and a terrific guy in BC Canada too…..but these two take you through the nightmare and make sense of it all!…..I never relied on a dr after all the blank looks. I feel like I have a degree in this now. But it was my face that took the hit…..like you. Histamine Intolerance can present differently in everyone….but it was rarer on the face . But my background is Ehlers Danlos Syndrome ….some say double jointedness, which is accurate but one of only many things that are affected by having a collagen deficiency ….but 40% of us have MCAS and suffer from it. However……..diet is the answer….but YOUR diet is your answer. They will get you started and show you how to strip your food life and start with one thing at a time but it’s your journey . They have strict food lists to eat and avoid. A lot of it applied to me and a lot did not. I am also reactive to gluten, salicylates, lectins, sugar and anything that makes sugar, Histamines, and Oxalates….. but I have my food list now and my migraines, sinus infections, swelling, lesions , brain fog, depression from it all, lethargy , are all gone and stay gone as long as I eat from my own list faithfully. Eventually we all try a new thing….sometimes it’s a whoops, like a face cream, and I have 12 pinpoint pops on my face…..and all the symptoms came back too which is the really bad part, and they last a good 4 days after I reinstate my strict list and add some things that dry up the lesions. It still takes 4 days.And the thing thats really odd about my recovery is that because I am O+ blood type,, I actually heal up fast with going on the Carnivore Diet must to the chagrin of my GP ….don’t care…….BBBE butter bacon beef and eggs. And water. Straight up …….any time I’m hungry…….my Instant Pot saved me . Within 4 days all signs are gone and by 7 days I can reintroduce broccoli and lettuce and other foods and fruits…..very few, but have my list. I also have my Optimal Reset supplements…..from Dr. Campbell. They indeed keep my stable as I resurface.
A common co-morbid condition w EDS and MCAS actually. , is GAD Generalized Anxiety Disorder. Just highly sensory people. So I take Effexor xr for this and I bring it up bec it is a real and proven factor braided in w EDS and Mast Cell. You might want to check out the signs for that on line. I also have flushing or hives easily ……or did , before the diet and the Effexor. I take Tenormin for a fast pulse. I am in balance. Thats what you are striving for. But realize the anxiety is genetic….GAD is genetic…..and undiagnosed or untreated, can morph into depression, but really it’s core issue is anxiety. I’ve seen way too many folks get on an antidepressant when they were really just anxious. All of this really surfaced well with the intense study of Robin Williams, the actor and a tragedy of wrong meds. If you find yourself realizing you may have Mast Cell Activation Syndrome , there is a world of help out there for you! Millions of us! God Bless!
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5 ReactionsThank you. I am so tired of this swelling. I'm concerned because it's right under my eye too.
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1 Reaction@jroge, I can imagine that this unexplained facial swellng and not finding answers kills the self esteem.
I moved your post to this existing dicussion:
- Facial Swelling - no diagnosis: https://connect.mayoclinic.org/discussion/facial-swelling-no-diagnosis-after-2-years/?commentsorder=newest
I did this so you can read past posts and connect easily with others like @zebra2022 @melanchete @lucamckinnon @ginabee1 @susant75 @denny2788 @dididothatt @terrirussell and more.
Josh, have autoimmune disorders been ruled out?
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2 ReactionsMy name is Josh Rogers and I’ve had an issue where my face is constantly swollen and puffy. It started in 2017 and has never gone away. I’ve been to many many doctors and every test they’ve done has come back normal and I get pushed away because they can’t figure anything out. To name a few I’ve been tested for allergies, hereditary angiodema, had sinus polyp surgery, been to a naturopathic doctor, and many more that have all said they don’t see anything abnormal and can’t help me. The swelling is typically worst in the morning but never completely goes away throughout the day. I’ve taken prednisone and that helps manage the swelling to an extent but never returns my face to normal and as soon as I finish my prednisone stint over a month or two the swelling comes back full force. I’m looking for help or answers as this has been very distracting, annoying, and overall kills my self esteem. I have attached two photos of what I have looked like for the last 5 years swollen and two more from before the swelling started. I appreciate anyone taking the time to help thanks!
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2 ReactionsI'm not sure. My chiropractor mentioned that it might be lymphatic fluid, but I don't have any risk factors for facial/neck lymphedema. The weird thing is that it's not really a diffuse swelling. It's more of an isolated swelling along my jawline close to my mouth.
My ENT did test for sjogrens and it came back negative. My ANA test also came back negative.
Funny that you mention your salivary glands because my dentist thought they might have something to do with it. He referred me to an oral surgeon but I couldn't get in to see him until late January.
The weird thing is that it's an isolated swelling. It's an area maybe 1/2 inch big along my jawline right next to my mouth. It's not really visibly noticeable but you can feel it when you palpitate it.
did they test for sjogrens? That's what I originally referred to the ENT for was facial swelling. I've been diagnosed since 2015 and have had sever bought of my face swelling. Including now. Now it's because the saliva in my salivary glands are turning into hair gel consistancy and my salivary glads ( i was told) are going kaput.
Wondering if it might be lymphedema?! A vascular specialist might be able to get you pointed in the right direction.
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