Jump to content

  • Welcome to Celiac.com!

    You have found your celiac tribe! Join us and ask questions in our forum, share your story, and connect with others.



  • Celiac.com Sponsor (A1):

    Celiac.com Sponsor (A1-M):

  • Get Celiac.com Updates:
    Support Our Content
    eNewsletter
    Donate

Possible Misdiagnosis?

ChristineSelhi

Recommended Posts

ChristineSelhi Rookie
ChristineSelhi
Posted

Hi! I discovered my gluten intolerance through an elimination diet years ago after a frustrating round with a dermatologist and a primary care physician who thought the break out on my face was anything from herpes to a bacterial infection. I put the brakes on when the dermatologist wanted to put me on antibiotics for 6 months (!). I was convinced of an allergy, and decided to try the diet. Lo and behold the rash disappeared after two weeks, and returned only with the re-introduction of wheat. I had a whole slew of other symptoms over the years that pointed to gluten intolerance--IBS, chronic sinus infections, ovarian cysts, vitamin D deficiency.

I then sought medical attention at a Celiac Specialist up at Columbia Medical about 5 years ago. A doctor took a biopsy from my stomach (not my intestines) and did a DNA test to rule out celiac disease. Still I met with a nutritionist and reviewed diet plans and was on and off gluten for 5 years. Most recently I have been gluten free for about a year. Except for a few unexpected slips (mostly generic medication mishaps--DON'T TAKE THERAFLU!!!!)

Recently I have been getting very ill from trace amounts of gluten (such as those in generic medications, or theraflu) and it seems my symptoms have gotten worse--extreme fatigue, very bad headaches, stomach aches a few hours after ingestions, and dizziness, and as always the rash around my mouth.

I was told by this doctor years ago that they could rule our celiac because I didn't have a particular strain of DNA that all folks with Celiac have. I suspect though that this is more than an intolerance. A couple people I know who are gluten intolerant tell me they think I am a celiac, because my sensitivity is so debilitating. Does anyone know if, despite this DNA test, it is still possible to have celiac disease?

Maybe it doesn't matter, but I would like to know, and there is no way I am willing to re-introduce gluten to get the biopsy done. :o I think that would do more harm than good.

Thanks for any responses!!

ChristineSelhi

Celiac.com Sponsor (A8):
Celiac.com Sponsor (A8):

Celiac.com Sponsor (A8-M):


Lovemy4babies Rookie
Lovemy4babies
Posted
Hi! I discovered my gluten intolerance through an elimination diet years ago after a frustrating round with a dermatologist and a primary care physician who thought the break out on my face was anything from herpes to a bacterial infection. I put the brakes on when the dermatologist wanted to put me on antibiotics for 6 months (!). I was convinced of an allergy, and decided to try the diet. Lo and behold the rash disappeared after two weeks, and returned only with the re-introduction of wheat. I had a whole slew of other symptoms over the years that pointed to gluten intolerance--IBS, chronic sinus infections, ovarian cysts, vitamin D deficiency.

I then sought medical attention at a Celiac Specialist up at Columbia Medical about 5 years ago. A doctor took a biopsy from my stomach (not my intestines) and did a DNA test to rule out celiac disease. Still I met with a nutritionist and reviewed diet plans and was on and off gluten for 5 years. Most recently I have been gluten free for about a year. Except for a few unexpected slips (mostly generic medication mishaps--DON'T TAKE THERAFLU!!!!)

Recently I have been getting very ill from trace amounts of gluten (such as those in generic medications, or theraflu) and it seems my symptoms have gotten worse--extreme fatigue, very bad headaches, stomach aches a few hours after ingestions, and dizziness, and as always the rash around my mouth.

I was told by this doctor years ago that they could rule our celiac because I didn't have a particular strain of DNA that all folks with Celiac have. I suspect though that this is more than an intolerance. A couple people I know who are gluten intolerant tell me they think I am a celiac, because my sensitivity is so debilitating. Does anyone know if, despite this DNA test, it is still possible to have celiac disease?

Maybe it doesn't matter, but I would like to know, and there is no way I am willing to re-introduce gluten to get the biopsy done. :o I think that would do more harm than good.

Thanks for any responses!!

ChristineSelhi

I dont know much about your case, or dna testing for that, but Ill tell ya one thing :) Doctors dont know everything. They are not all knowing, and the medical feild is every changing. With that, I would say yes, you can have celiacs and not have the gene.

My son has had every weird syptom a 2 year old could have. And doctors dont know why. They just dont know everything.

leadmeastray88 Contributor
leadmeastray88
Posted

DNA testing is not diagnostic. It is only useful in seeing if you have the "appropriate" genes and if it could be possible for you to develop the disease. It doesn't mean you will, and it doesn't mean you won't. The problem is that not all diagnosed Celiacs have these "recognized" genes and/or the US/Canada don't recognize as many Celiac genes as other countries do. I'm no expert on genetic testing, but you obviously have a problem with gluten. Have you ever had the bloodwork done?

ChristineSelhi Rookie
ChristineSelhi
Posted
  • Author
DNA testing is not diagnostic. It is only useful in seeing if you have the "appropriate" genes and if it could be possible for you to develop the disease. It doesn't mean you will, and it doesn't mean you won't. The problem is that not all diagnosed Celiacs have these "recognized" genes and/or the US/Canada don't recognize as many Celiac genes as other countries do. I'm no expert on genetic testing, but you obviously have a problem with gluten. Have you ever had the bloodwork done?

Hi Kim,

Thanks so much for your response. I never did do the bloodwork, because by the time I saw the doctor, I had cut off my gluten intake. I have heard of people still having the antibodies after they went gluten free.

I guess in one sense it doesn't really matter, it's just one likes to know what the real problem is, you know! Also, in a way, it would be easier to just tell people that I am a celiac, and then they take me seriously. Working through it with the family can be tough.

Anyway, I will talk to my physician about doing the bloodwork.

Regardless, I have gotten much more serious about making sure gluten is not in anything that comes near me. I just can't go losing whole sick days because of a lazy moment!

Appreciate your input very much. That helps me to understand. I was so new to the celiac world, I didn't know what questions to ask 5 years ago, and I have had so many people say to me recently are you SURE you're not a celiac that I have sort begun to wonder myself.

Thanks again!

ChristineSelhi Rookie
ChristineSelhi
Posted
  • Author
I dont know much about your case, or dna testing for that, but Ill tell ya one thing :) Doctors dont know everything. They are not all knowing, and the medical feild is every changing. With that, I would say yes, you can have celiacs and not have the gene.

My son has had every weird syptom a 2 year old could have. And doctors dont know why. They just dont know everything.

Yeah, they are frustrating sometimes. I have a new one who seems pretty good, but I have been not eating gluten for so long and feeling so good, I didn't think to bring it up with her....a little daft of me I guess, but oh well. I will talk to her about it, but as I said to Kim, the official diagnosis would be nice, to help me to explain it to friends and family who sometimes think I exaggerate. But, maybe I'll just use the word to help them understand ;) Thankfully, I have a very supportive husband who sees it all, and helps me at restaurants and with dinner parties. He's practically gluten free by default. Thanks, best of luck with your son. I can imagine it must be so hard with the little ones!

ang1e0251 Contributor
ang1e0251
Posted

Post your DNA test results here. There are those who are well versed in genetics and could give you more info than might have been available at the time.

ChristineSelhi Rookie
ChristineSelhi
Posted
  • Author
Post your DNA test results here. There are those who are well versed in genetics and could give you more info than might have been available at the time.

Sadly, I was far a less responsible patient back then and have moved a couple of times. I will try and hunt them down, and see what I can find! I still have the number for the Rx though, I will see if I can get a copy.

Celiac.com Sponsor (A8):
Celiac.com Sponsor (A8):

Celiac.com Sponsor (A8-M):


happygirl Collaborator
happygirl
Posted

While most 95%+ have the two recognized genes associated with Celiac (HLA DQ2 & HLA DQ8), not every single Celiac has one of the genes.

Also, you can have just as debilitating symptoms with non-Celiac gluten intolerance as someone with Celiac - or, for some, those with ncgi have more symptoms than Celiac.

Open Original Shared Link

On a day to day basis, treatment is the same - the gluten-free diet.

Archived

This topic is now archived and is closed to further replies.

Go to topic listing
  • Celiac.com Sponsor (A19):

  • Member Statistics

    • Total Members
      133,049
    • Most Online (within 30 mins)
      7,748
    Penny Puckett
    Newest Member
    Penny Puckett
    Joined
  • Celiac.com Sponsor (A20):
  • Celiac.com Sponsor (A22):

  • Forum Statistics

    • Total Topics
      121.5k
    • Total Posts
      1m
  • Celiac.com Sponsor (A21):

  • Upcoming Events

  • Posts

    • tiffanygosci
      Celiac support is hard to find

      By tiffanygosci · Posted

      Hi Cristiana! It's so nice to meet you! Thank you for the kind reply I am glad I live in a time where you can connect with others through the Internet. That is a mercy I am grateful for.
    • knitty kitty
      Positive biopsy

      By knitty kitty · Posted

      In the study linked above, the little girl switched to a gluten free diet and gained enough weight that that fat pad was replenished and surgery was not needed.   Here's the full article link... Superior Mesenteric Artery Syndrome in a 6-Year-Old Girl with Final Diagnosis of Celiac Disease https://pmc.ncbi.nlm.nih.gov/articles/PMC6476019/
    • knitty kitty
      Fruits & Veggies

      By knitty kitty · Posted

      Hello, @Jordan Carlson, So glad you're feeling better.   Tecta is a proton pump inhibitor.  PPI's also interfere with the production of the intrinsic factor needed to absorb Vitamin B12.  Increasing the amount of B12 you supplement has helped overcome the lack of intrinsic factor needed to absorb B12. Proton pump inhibitors also reduce the production of digestive juices (stomach acids).  This results in foods not being digested thoroughly.  If foods are not digested sufficiently, the vitamins and other nutrients aren't released from the food, and the body cannot absorb them.  This sets up a vicious cycle. Acid reflux and Gerd are actually symptoms of producing too little stomach acid.  Insufficient stomach acid production is seen with Thiamine and Niacin deficiencies.  PPI's like Tecta also block the transporters that pull Thiamine into cells, preventing absorption of thiamine.  Other symptoms of Thiamine deficiency are difficulty swallowing, gagging, problems with food texture, dysphagia. Other symptoms of Thiamine deficiency are symptoms of ADHD and anxiety.  Vyvanse also blocks thiamine transporters contributing further to Thiamine deficiency.  Pristiq has been shown to work better if thiamine is supplemented at the same time because thiamine is needed to make serotonin.  Doctors don't recognize anxiety and depression and adult onset ADHD as early symptoms of Thiamine deficiency. Stomach acid is needed to digest Vitamin C (ascorbic acid) in fruits and vegetables.  Ascorbic acid left undigested can cause intestinal upsets, anxiety, and heart palpitations.   Yes, a child can be born with nutritional deficiencies if the parents were deficient.  Parents who are thiamine deficient have offspring with fewer thiamine transporters on cell surfaces, making thiamine deficiency easier to develop in the children.  A person can struggle along for years with subclinical vitamin deficiencies.  Been here, done this.  Please consider supplementing with Thiamine in the form TTFD (tetrahydrofurfuryl disulfide) which helps immensely with dysphagia and neurological symptoms like anxiety, depression, and ADHD symptoms.  Benfotiamine helps with improving intestinal health.  A B Complex and NeuroMag (a magnesium supplement), and Vitamin D are needed also.
    • knitty kitty
      Positive biopsy

      By knitty kitty · Posted

      @pothosqueen, Welcome to the tribe! You'll want to get checked for nutritional deficiencies and start on supplementation of B vitamins, especially Thiamine Vitamin B 1.   There's some scientific evidence that the fat pad that buffers the aorta which disappears in SMA is caused by deficiency in Thiamine.   In Thiamine deficiency, the body burns its stored fat as a source of fuel.  That fat pad between the aorta and digestive system gets used as fuel, too. Ask for an Erythrocyte Transketolace Activity test to look for thiamine deficiency.  Correction of thiamine deficiency can help restore that fat pad.   Best wishes for your recovery!   Interesting Reading: Superior Mesenteric Artery Syndrome in a 6-Year-Old Girl with Final Diagnosis of Celiac Disease https://pubmed.ncbi.nlm.nih.gov/31089433/#:~:text=Affiliations,tissue and results in SMAS.  
    • trents
      Positive biopsy

      By trents · Posted

      Wow! You're pretty young to have a diagnosis of SMA syndrome. But youth also has its advantages when it comes to healing, without a doubt. You might be surprised to find out how your health improves and how much better you feel once you eliminate gluten from your diet. Celiac disease is an autoimmune disorder that, when gluten is consumed, triggers an attack on the villous lining of the small bowel. This is the section of the intestines where all our nutrition is absorbed. It is made up of billions of tiny finger-like projections that create a tremendous surface area for absorbing nutrients. For the person with celiac disease, unchecked gluten consumption generates inflammation that wears down these fingers and, over time, greatly reduces the nutrient absorbing efficiency of the small bowel lining. This can generate a whole host of other nutrient deficiency related medical problems. We also now know that the autoimmune reaction to gluten is not necessarily limited to the lining of the small bowel such that celiac disease can damage other body systems and organs such as the liver and the joints and cause neurological problems.  It can take around two years for the villous lining to completely heal but most people start feeling better well before then. It's also important to realize that celiac disease can cause intolerance to some other foods whose protein structures are similar to gluten. Chief among them are dairy and oats but also eggs, corn and soy. Just keep that in mind.
×
×
  • Create New...

Important Information

NOTICE: This site places This site places cookies on your device (Cookie settings). on your device. Continued use is acceptance of our Terms of Use, and Privacy Policy.