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.

@hopingforanswer

Thank you, I’m going to call and see what they say.

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Best of luck! I truly believe they will give you the answers you are needing

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I recently found a post while doing research that resembles exactly what I’ve gone through this past year. I thought I should share my story as well in hopes for an answer or some guidance. Since September 2020 my face has been swelling every single day lasting the whole day. It gets worse as I sleep but fades a little as the day goes by. It started out as something small but gradually got more severe until it seemed to cap at a certain point. Originally my doctor thought it may have something to do with allergies. I’ve had 2 cats since late 2018 and have never had more than a stuffy nose or small hives which was never enough to bother me. He recommended we try using allergy pillow cases and making sure my room was clean and tidy while also keeping the cats out of my room. Nothing changed and we went back again for him to recommend an x-ray and to book an appointment with an allergy specialist. The x-ray showed nothing and I went to the allergy specialist months later. He did an allergy test and prescribed me prednisone for only four days. I was allergic to cats, horses, and grass with cats being the most feint of the three. On the fourth day of prednisone I clearly noticed a difference and so did my family. He started prescribing me many different allergy medications which I was on for a couple weeks to a month straight with no success from any of them. I started to think it may have something to do with asthma considering I've always been short of breath after exercising for a small period of time. I went back to the specialist to talk about that and he gave me an inhaler and prescribed asthma related medication which never worked either. I haven't gone back and so i started doing research again. Hypothyroidism is something that runs in my bloodline and has symptoms of swelling so I decided to get a blood test which came back perfectly fine. After that I got a CAT scan which also showed nothing besides the swelling itself. Its been a couple months since any of that and my next speculation has to do with masks. The first time I ever started wearing masks consistently was the start of school in September of 2020 which happens to be when it all started. I started wearing a black cloth mask I got from my gym class since it was the most comfortable to me. Like I said previously my swelling wasn't as bad for the first few months compared to now. Around winter I forgot my mask and was forced to use the normal surgical masks provided by the school. I really liked how it fit and I knew it was a lot more safe compared to fabric masks from what I’ve heard. My swelling started to get worse but I never once thought it might have to do with my mask. I started wearing them everyday until now where Im going to switch back to a cotton mask in hopes things will simmer down. The only other thing I could possibly think of as a cause for the swelling is a terrible sunburn I got in mexico around April 2020. I ended up blistering all over my face but I took good care of my skin and quickly recovered. I’m 17 years old, I’m skinny, I’m not on any medications, Ive never really had a serious medical condition, and I’m really lost. I just want an answer but Im not very hopeful after being let down so many times prior to now. If anyone has any information I might be able to find helpful I would really appreciate it. Thank you

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Hi @lily2013

I’m wondering if you ever found answers in relation to your facial swelling? I’m on a similar path with facial swelling and no answers as of yet.

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@lucamckinnon

I recently found a post while doing research that resembles exactly what I’ve gone through this past year. I thought I should share my story as well in hopes for an answer or some guidance. Since September 2020 my face has been swelling every single day lasting the whole day. It gets worse as I sleep but fades a little as the day goes by. It started out as something small but gradually got more severe until it seemed to cap at a certain point. Originally my doctor thought it may have something to do with allergies. I’ve had 2 cats since late 2018 and have never had more than a stuffy nose or small hives which was never enough to bother me. He recommended we try using allergy pillow cases and making sure my room was clean and tidy while also keeping the cats out of my room. Nothing changed and we went back again for him to recommend an x-ray and to book an appointment with an allergy specialist. The x-ray showed nothing and I went to the allergy specialist months later. He did an allergy test and prescribed me prednisone for only four days. I was allergic to cats, horses, and grass with cats being the most feint of the three. On the fourth day of prednisone I clearly noticed a difference and so did my family. He started prescribing me many different allergy medications which I was on for a couple weeks to a month straight with no success from any of them. I started to think it may have something to do with asthma considering I've always been short of breath after exercising for a small period of time. I went back to the specialist to talk about that and he gave me an inhaler and prescribed asthma related medication which never worked either. I haven't gone back and so i started doing research again. Hypothyroidism is something that runs in my bloodline and has symptoms of swelling so I decided to get a blood test which came back perfectly fine. After that I got a CAT scan which also showed nothing besides the swelling itself. Its been a couple months since any of that and my next speculation has to do with masks. The first time I ever started wearing masks consistently was the start of school in September of 2020 which happens to be when it all started. I started wearing a black cloth mask I got from my gym class since it was the most comfortable to me. Like I said previously my swelling wasn't as bad for the first few months compared to now. Around winter I forgot my mask and was forced to use the normal surgical masks provided by the school. I really liked how it fit and I knew it was a lot more safe compared to fabric masks from what I’ve heard. My swelling started to get worse but I never once thought it might have to do with my mask. I started wearing them everyday until now where Im going to switch back to a cotton mask in hopes things will simmer down. The only other thing I could possibly think of as a cause for the swelling is a terrible sunburn I got in mexico around April 2020. I ended up blistering all over my face but I took good care of my skin and quickly recovered. I’m 17 years old, I’m skinny, I’m not on any medications, Ive never really had a serious medical condition, and I’m really lost. I just want an answer but Im not very hopeful after being let down so many times prior to now. If anyone has any information I might be able to find helpful I would really appreciate it. Thank you

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I’m so sorry you are experiencing this as a 17 year old! I’m having the same symptoms. I’m in the midst of working with a Rheumatologist to find answers and so far nothing. I went the same route, allergy testing etc and no cause found there. I’ve been to an eye doctor to see if it’s eye infections, no. Dermatologist as I do have Rosacea but no answers there either. Keep me posted if you find anything new and I’ll do the same.

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@ginabee1

I’m so sorry you are experiencing this as a 17 year old! I’m having the same symptoms. I’m in the midst of working with a Rheumatologist to find answers and so far nothing. I went the same route, allergy testing etc and no cause found there. I’ve been to an eye doctor to see if it’s eye infections, no. Dermatologist as I do have Rosacea but no answers there either. Keep me posted if you find anything new and I’ll do the same.

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Hello @ginabee1 and @lucamckinnon, Welcome to Connect. I’m glad you both found Connect and I’m hoping another member with similar symptoms will see your post and respond. There are so many autoimmune conditions out there that it can be a struggle getting a diagnosis and treatment that helps.

@ginabee1, you mentioned you are in the process of working with a rheumatologist. Can you provide an update if you find any new information or treatments that help you?

@lucamckinnon, I'm also sorry that you have to deal with the facial swelling at a young age. I'm sure your parents are concerned and frustrated as well. Is it an option to seek help at a major teaching hospital or health facility like Mayo Clinic that uses a multidisciplinary teamwork approach for healthcare?

More information on multidisciplinary teamwork, physician-led governance, and patient-centered culture drive world-class health care – https://collections.nlm.nih.gov/catalog/nlm:nlmuid-101537958-pdf

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@lily2013 Lily2013 I, too, have the facial swelling and skin sagging (cutis laxa). Mine is the result of Gelsolin (GSN, AGEL, Finnish Amyloidosis). Both sets of eyelids are swelling shut, but quite slowly. Fortunately, my rheumy put me on a .80 weekly dose of Methotrexate, which really slowed the progression of the GSN. But there is a lot of other stuff which is part of it. Encephalopathy, leukemia, anemia, cracking teeth, lots of weird tissue growths, especially around the head and torso. Lots of cancers around the ears, eyes, thyroid prostate, larynx, etc. But I seem to be coming to the end of the saga now. My guess is my heart and nerve systems will give out first. Walking is only with great difficulty now. Lots of neuropathy, which I control with daily doses of turmeric. Kidneys and liver are fading. oldkarl

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