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lily2013 (@lily2013)

Facial Swelling - no diagnosis

Autoimmune Diseases | Last Active: Apr 20 2:13pm | Replies (158)

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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?

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Replies to "Hi @lily2013, I experienced very, very similar facial swelling issues for several years.... very swollen face,..."

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?

@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.

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.

@kdubois You say that “omeprazole is known to be the worst inhibitor of all of the PPI drugs”. That does not sound good, which PPIs are better choices? I am on omeprazole, have been for quite a while due to Barrett’s Esophagus. After my liver transplant they doubled my dose for a while, now I am back to the 20mg. Everything I read about these drugs makes them sound very problematic to take in the long term but what are the alternatives?

I agree wholeheartedly that doctors outside of a major medical center, not just Mayo, are more aware and more doggedly seek a diagnosis than the doctors at smaller hospitals. I live outside of Manchester NH. I had Legionnaire’s disease in December. I feel quite certain that had I gone local the diagnosis would have stopped at pneumonia but at MGH they continued and discovered the Legionnaire’s, which requires a different antibiotic. I knew a woman in the Pacific northwest who died early this month from pneumonia, she became septic from what I was told. She was at a smaller local hospital. If she had been at a major medical center I suspect she would still be alive.

@contentandwell Yes, there is much to be said about going to a more sophisticated health care facility. It does make a difference. I’m glad that you got the right diagnosis and treatment for the Legionnaires. Teresa

@hopeful33250 An online friend in northern CA died in the beginning of January from pneumonia that led to sepsis. She was at a smaller, local hospital. I can’t help but wonder if she had been brought to one of the major medical centers in SF she would still be alive. It was a real shock to find out she had passed away, she was a really vibrant person.

@contentandwell I apologize for the delay in responding. There are many PPIs out there, and I figured out which most- and least-negatvily affected me by taking them. Omeprazole was the worst and I was able to find many articles online supporting my physical findings. With it said that all PPIs make me sick, the PPI that gave me the least symptoms was actually Nexium (esomeprazole). Everyone is different though.

@kdubois Kelly, so are you taking a PPI now? I was first on omeprazole and that bothered me, then I tried two different PPIs and they bothered me even more so I went back to the omeprazole and it gradually stopped giving me any problems at all. I need to take something apparently since I have Barrett's Esophagus.
When all of these drugs really bothered me I had undiagnosed non-alcoholic cirrhosis so apparently my liver was having trouble metabolizing them. Thankfully, with a new liver I have absolutely no problem but I am still concerned about long-term effects.

@contentandwell the nissen fundoplication that Mayo performed on me went perfectly, and I haven't had to take any PPIs or H2 antagonists since!

I would hypothesize that these drugs could likely have been why you experienced liver problems. Gad to hear that your new liver is working perfectly!

I am concerned about long-term effects fo the drugs that built up in my system, as well. I have 12 years and 80 pounds worth of unmetbaolized meds inside of me… frankly, I'm surprised that I have recovered as much as I have, but I try to remain realistic about what this did to me internally.

@kdubois Kelly, I had to look up "nissen fundoplication", I had never heard of that. I have Barrett's Esophagus so I don't know if that would be an appropriate treatment for that or not. It became obvious after my cirrhosis was finally diagnosed, that I had it long before I started taking omeprazole, so that was not a cause. I also do really worry about long term effects.

Interestingly, I got a letter from MGH yesterday asking me to take part in a study for Barrett's. I plan to take part it. They follow you for four years during which time they do an annual examination via a high resolution cameral that they lower into your esophagus. It apparently is a better tool than what they can see with an endoscopy. During that time I am to have two endoscopies also.