Severity Of Symptoms Linked To Genetic Profile?

[sweetsailing]

This is a question that I have pondered for quite sometime and wanted to get some feedback or reactions from people who have more experience that I do. 

 

My hypothosis is basically that perhaps the genetic profile and genetic markers for celiac disease somehow predict or play into the severity of symptoms that one has.

 

In other words, the study below points out that having 2 copies of DQ 2 puts one at higher risk for celiac disease than just having one copy of DQ2  (I have 2 copies of DQ2). 

 

Open Original Shared Link

 

However, based on my experience with symptoms I kind of feel like my symptoms came on rather strongly and perhaps earlier than body tests, antibodies or biopsies would have a chance to manifest themselves.  So, I guess I am wondering if there perhaps are celiacs out there who exhibit symptoms very early in the disease process without changes to antibodies or changes in intestinal tissues that is linked to a very high risk genetic profile such as 2 copies of DQ2.

 

Anyone else have 2 copies of DQ2?  Did you have severe symptoms?  Did you have positive antibodies or biopsy?

 

Just kind of thinking out loud and wondering about your thoughts

[LauraTX]

Also check out:

Open Original Shared Link   (near the end is a mention with a source)

 

and

 

Open Original Shared Link

 

Overall, it is inconclusive, but I think that is potentially something that may be uncovered more in future research.

[kareng]

Perhaps having 2 genes just gives you a better chance that 1 of them will act up and start the Celiac?  

[Gemini]

Yes, I have double DQ-2 and I presented with classic Celiac.  I believe, in hindsight, that I triggered as a toddler because some of my teeth came in without enamel and I have had serious stomach issues since I was 3-4 years old. It ended up in an emergency appendectomy when I was 8 years old.  I was not diagnosed until I was 46 and by then, I was 94 pounds and was suffering from advanced malnutrition.  My symptoms were horrible.  Every single one that happens with classic Celiac Disease. 

 

I did the Celiac panel and failed all tests by huge numbers except the tTg/IgG....which was normal.  I declined the biopsy because I was too sick at diagnosis to allow any doctor to put a tube down my throat.  To be honest, I wanted nothing to do with them because I couldn't understand how someone who looked like the poster child for Celiac could be told there was nothing wrong with me....for years. 

 

Nine years after starting the gluten-free diet, I am a totally different person. No more nutritional deficiencies, I have gained 20 pounds and am completely asymptomatic.  I feel better than I have my entire life.  So....you can be pretty far gone and make a full recovery if you put the work into it. 

 

On my genetic testing results, it stated that those with a double Celiac gene who trigger for the disease will experience a more severe form of Celiac.  After what I went through, I would tend to agree with that! 

[GottaSki]

I'm double DQ-2 and single DQ-8 .... can trace symptoms to back to when I was a toddler.

 

I was chubby with chronic constipation (I didn't know it wasn't normal to not go for a week as a child because no one talked about such things and tummy aches were met with a toughen up attitude)...I simply was not allowed to be sick so I didn't complain much -- it did make me very strong despite constant symptoms.

 

In my teens I ate horribly as many teen girls do to lose weight -- popping dexitrim and surviving on salads and diet coke -- horrid diet, but surprisingly the healthiest period in my life...it wasn't until I was diagnosed with Celiac Disease it finally clicked -- I felt great because the gluten was out.

 

Too many doctors to count told me the old "calories in, calories out" song --which wasn't true for me.  Always ate three fairly healthy meals and lived on top of a rather large hill that I walked to school and back about a mile every day and played outside from dawn to dusk, yet was still "husky".  After each pregnancy I gained more weight when I stopped nursing than while I was pregnant...collecting about 70 extra pounds by the time I was finally diagnosed and removed gluten -- I dropped about 40 pounds the first year without trying.

 

We all present a bit different, but having three copies certainly has made my family at higher risk -- between myself, three children and two grands -- we have four with celiac disease and two with NCGS (perhaps early celiac, but will never test positive as they don't want to challenge).

 

I've had a rough five years since diagnosis because I was in pretty bad shape when I finally was given a tTG-IgA test.  Thankfully, I am now more healthy than I've been in the past decade or longer.  I like to tease that I am aging backwards like Benjamin Buttons

 

Funny aside -- my celiac doc was happy as a clam when he told me my gene results -- I was one of two patients with diagnosed celiac disease that had three copies which made a research paper he published more interesting

 

Edited to add -- I tested "weakly" positive on tTG-IgA and IgG, EMA, AGA-IgA and IgG (DGP was not being used until my follow up checks) with complete villious atrophy on all samples.

 

My antibodies came down quickly as they were not very high -- was normal within three months and low by six months gluten-free.  Took about two years to get most of my nutrient levels in healthy ranges.

[Gemini]

3 COPIES?!?!?!?  Holy Moly!!!!!!! 

 

Too bad our "luck" at Celiac genetics couldn't be transferred to the lottery.....

[IrishHeart]

I am another double DQ2. I just read about the double DQ2 gene being a higher risk for celiac than just one copy in Dr.Fasano's new book and I had to laugh. It explains both of my parents and my health histories, but it's too late for my Dad.. 

 

I am not sure it makes it "more severe" in us, but it surely increases our risk of developing it, according to the conclusion of the study. 

And for me, it sure felt "pretty severe".

 

This thing tried to kill me. I had a 4 -page list of symptoms upon diagnosis and years and years of symptoms that went undiagnosed. I had symptoms as early as my teens.

It would take me a half an hour to type our what I dealt with, but I will try to be concise: I was affected head to toe and suffered multiple miscarriages, gall bladder disease, neuropathy, ataxia, hair loss, liver, kidney, adrenal and  thyroid dysfunction, nerve pain, burning skin, loss of cognitive function, B-12, folate, iron and D deficiencies, etc.etc. I lost 90 lbs in less than 8 months. I suffered bone and joint pain, muscle wasting, insomnia and a dozen or so more horrid symptoms for 3 long years until finally, I got a doctor to say "omygosh, you're right you have celiac". I have osteopenia and osteoarthritis and a form of muscular/connective tissue disorder than is hard for the doctors to classify. They ruled out MS, lyme, lupus and every other degenerative muscle/bone disease, so we just  call it "celiac fallout".

I work with a PT and MT to strengthen and rehab my muscles. It's been a long road to recovery.

I looked and moved like I was 20 years older than I am when I was very ill. I was in agonizing pain

and could barely walk and needed help dressing. I could not even drive my car for a while. .

(but, now, I go to the gym!)  

 

 

I am seronegative on blood work. My biopsy was done well after the fact (it's a long story why that happened) and it showed minimal spotty atrophy (but he called it non-active celiac disease at that point because I am getting well and I have been strictly gluten-free )

 

I have lots of gut wall scar tissue in my intestines, but he thinks I will just continue to improve. I agree!

 

My new GI doctor had waited to put me under for the test because I was too ill to do the procedure when I was first diagnosed. This was a DX given to me based on symptoms and the gene test. He just felt it was better to wait. I was diagnosed backwards, so to speak. 

 

and now, I am aging backwards, so that's cool with me.

[sweetsailing]

_{I agree with Gemini - 3 copies Holy Molie!!} 

 

_{Irish Heart - I can soo relate to how you describe your muscle and bone pain.  At one point, I was so bad that I think I could get severe tendonitis from get up from a chair LOL!!  However, like you, I just got back from the gym!!  Still have along way to go, but I have a great personal trainer who is helping me.  I am just a step above physicial therapy kinds of activities but hey, it's progress and I don't hurt all the time anymore.  When you say you were negative on the bloodwork, when did you have it done?  Was it done while you were still really sick and still consuming gluten?}

 

_{I am just 6 months gluten free and at this stage, I am in unchartered waters.  I continue to feel better all the time.  It was so bad, I couldn't even tolerate vitamin supplements until very recently, so that's helping now too.  I am not sure where the "better train" will end, all I know is I haven't felt this good in at least 4 years.} 

[IrishHeart]

Sadly, no. Upon very bad advice from a "functional med doc", I was tested when I was already gluten-free  for almost 2 months. (I did that out of sheer desperation on my own since no one could give me any answers and my cousin's wife with NCGS told me "I think you have celiac!) anyway... 

He told me the test would still be valid.This is incorrect, I know now.  Based upon that result, I was told I did not have celiac and I could consume gluten. I went downhill another 10 months based on that erroneous advice. 

 

to further complicate things, later, I learned it was not even a proper celiac panel, but an IgG4 test for "gluten sensitivities"---those tests do not diagnose a damn thing. 

 

This is why I am so vocal about proper testing protocols. My experiences with inept doctors and botched testing makes me pretty angry and I try to spare others the tragedy that people like Gemini, Skilisa and I have endured.  This is not rocket science and the doctors need to get on board with the proper diagnostic protocol.. 

 

All 3 of us might as well have had CELIAC! plastered on our foreheads, the signs were there for YEARS.

[sweetsailing]

I am so sorry, you had to suffer for as long as you did  

 

I am right there with you.  I likely had celiac for at least 8 years with milder symptoms and severe symptoms for the last 2 years.  I essentially fired my primary care physician and she got several glares (you know the ones) from me when she asked me "Could it be anxiety?"  "Perhaps you need physical therapy" 

 

No!!! It's NOT anxiety...in my calmest non-anxious voice.  I wasn't anxious until you posed the question!  And YES, I need physical therapy, the more important question is WHY?  And NO, I don't want another prescription to try.  I want you to figure out what is going on. 

 

Thankfully, I finally went to Mayo Clinic and I had an absolutely fantastic physician at Mayo.  I actually had 2 hours of face time with him.  2 HOURS! while he patiently listened to ALL my symptoms, we discussed everything.  He did the most through exam I have ever had and appropriately connected me with specialists and the right lab testing, etc  I don't have enough great things to say about Mayo Clinic.  This was actually the second time I had been there as a patient and both times were fantastic.  When I met with the GI specialist there, he didn't hesitate one bit in ordering the full celiac panel and genetic testing. 

[GottaSki]

yep, lucky us

 

like Irish...my history with being dismissed or misdiagnosed by a multitude of doctors is the reason I hang around here -- shouting at times -- proper testing, proper testing, proper testing -- do not remove gluten before you have been properly tested

 

Have also got my primary, OB/Gyn and allergist all testing (full celiac antibody panels - no more of the single tTG-IgA screening method) anyone that presents with fatigue, autoimmune type symptoms or fertility issues.  

 

One doctor at a time....we can help them catch up 

[IrishHeart]

Same here. My GYN, former Endo (cause I do not need him now), a psych doc I went to for "anxiety meds" (I never took )and my PCP--all test for celiac if their patients  present as I did with a plethora of symptoms--especially the "extraintestinal ones" because I MADE THEM read the literature. Still working on the 3 neuros I saw. They are stubborn. lol

 

One doctor at a time.   

[1desperateladysaved]

Not wishing to trump anyone's genetics, but I feel like I won the genetic lottery.  Actually, I believe there was no mistake for me to get celiac.  I have double DQ2 and double DQ8.  Fatigue seems to be associated for me and I can remember keeping my head down on my desk in elementary school.  The enamel left my teeth at 17.  I know when it went off, because of the dentist's gripes and because I still had spots on my front teeth where the braces were.  I won't believe not brushing did it,.  My sister thought I looked pregnant at 10.  Everything makes sense now.  In 2007 my heart ailed big time.  I couldn't seem to get up and go.  I thirsted extremely and sat on the couch and drank water and chewed on ice!  Supplements helped me to tread water until I finally got diagnosed!

 

I have heard of one other with double DQ 2 and DQ8, but she was on a different forum.  I don't care to get into the sorts of reactions I seem to be struggling with now.  I am recovering, I have a clear mind, some energy, and I have some hope for this life again.

 

Dee

[GottaSki]

Not wishing to trump anyone's genetics, but I feel like I won the genetic lottery.  Actually, I believe there was no mistake for me to get celiac.  I have double DQ2 and double DQ8.  Fatigue seems to be associated for me and I can remember keeping my head down on my desk in elementary school.  The enamel left my teeth at 17.  I know when it went off, because of the dentist's gripes and because I still had spots on my front teeth where the braces were.  I won't believe not brushing did it,.  My sister thought I looked pregnant at 10.  Everything makes sense now.  In 2007 my heart ailed big time.  I couldn't seem to get up and go.  I thirsted extremely and sat on the couch and drank water and chewed on ice!  Supplements helped me to tread water until I finally got diagnosed!

 

I have heard of one other with double DQ 2 and DQ8, but she was on a different forum.  I don't care to get into the sorts of reactions I seem to be struggling with now.  I am recovering, I have a clear mind, some energy, and I have some hope for this life again.

 

Dee

 

ummm...trumping isn't a great thing in this instance

 

the double/double is rare -- the paper my doc wrote didn't have one of you

 

Open Original Shared Link

 

in the abstract I'm one of the 11 with both genes -- I can't find my copy of the full paper and don't remember if he sited the two of us that had double plus one or if he just told me that

[sweetsailing]

Holy crap 4 genes Batman!!

 

My husband also has a genetic disease unrelated to celiac disease.  Now I tell my daughters the only good genes they are getting from us are the only they wear

[GottaSki]

  Now I tell my daughters the only good genes they are getting from us are the only they wear

 

We say this in my family too!  Luckily, only brilliant folks carry silly-genes