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

Diagnosis Help/ Genetic Markers

deltalima21

Recommended Posts

deltalima21 Newbie
deltalima21
Posted

Hey everyone,

I have experienced swelling/arthritis type in my joints(right ankle, knee, left wrist). Also had torn tendon in right foot with no specific trauma.

Many blood tests have taken with results normal, a few of the abnormals

35 iron,

21 vitamin D

Leukocyte s 12

Neutrophils 7.88

Monocytes 1.18

LgA <1.2

LgG 7.0(weak positive)

C reactive protein 67.9

Upper endoscopy revealed scalloping of duodenum with normal villi architecture. Biopsy showed higher white blood cells. At this point doc said I had celiac disease. My mother, also a physician got tested and showed negative genetic markers. My doc was unwilling to order genetic test and my mom ordered for me anyways. Here are the results:

Celiac Disease Interpretation

May 03, 2013

See comments

Show historical results

Permissive genes absent. Celiac disease extremely unlikely.

DQ alpha 1

01,02:01

Show historical results

Not Applicable

DQ beta 1

03,05

Show historical results

Not Applicable

Serologic Equivalent: 9,5

Celiac gene pairs present?

No

Show historical results

Method: Low to Medium or High Resolution Molecular Testing

Any help or thoughts would be extremely appreciated! :)

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

Celiac.com Sponsor (A8-M):


foam Apprentice
foam
Posted

Some stuff majorly out of whack with you, I'd fix the Vitamin D for a start since that's easy and something you can certainly control yourself. I'm pretty jealous of your massive Neutrophil count... I have almost none :)! well 1.8 usually, it's long way from 7.88.

 

I agree you are very unlikely to have a problem with celiac disease considering you have no genes for it. But that doesn't mean something else isn't messing with your gut/immune system. Get the Vitamin D up to 100+ and see what changes, that would be my first step.

ravenwoodglass Mentor
ravenwoodglass
Posted

Unfortunately gene testing can be problematic if you don't have one of the two most common genes for celiac. That doesn't however mean you can't have it. My genes are a case in point. I am firmly diagnosed but lack either of those two genes. However in the Middle and Far East the genes I carry are considered to be associated with celiac. It can be very confusing but if you respond well to the diet you have the answer as to whether you should be on it regardless of what the genes you carry are, IMHO.

Deaminated Marcus Apprentice
Deaminated Marcus
Posted

Did you do a celiac panel such as this one:

 

Total IgA
Transglutaminase IgA      tTG-IgA 
Deaminated Gliadin IgA   DGP-IgA
Deaminated Gliadin IgG  DGP-IgG

 

 

Can someone explain to me how she can have: "scalloping of duodenum with normal villi architecture" ?

 

Why is the villi normal with the scalloping?    

 

Anyone know?

ravenwoodglass Mentor
ravenwoodglass
Posted

Did you do a celiac panel such as this one:

 

Total IgA

Transglutaminase IgA      tTG-IgA 

Deaminated Gliadin IgA   DGP-IgA

Deaminated Gliadin IgG  DGP-IgG

 

 

Can someone explain to me how she can have: "scalloping of duodenum with normal villi architecture" ?

 

Why is the villi normal with the scalloping?    

 

Anyone know?

The damage to the villi can be patchy and easily missed. The scalloping can also be seen early on before severe villi damage is present.

deltalima21 Newbie
deltalima21
Posted
  • Author

Don't believe that the celiac panel you are referring to was ordered. The only blood tests for that was what I already posted with lga and lgg.

Here is pathology report:

DIAGNOSIS:

A. Duodenum, second part, endoscopic biopsy: Patchy

intraepithelial lymphocytosis (30-50/100 epithelial cells) with

normal villous architecture. Plasma cells are present but there is

no increase in lamina propria inflammation and no foamy macrophages.

Comment: Increased intraepithelial lymphocytes with normal villous

architecture can be seen in symptomatic, latent or partially treated

gluten sensitivity (celiac sprue), dermatitis herpetiformis, and

first degree relatives of gluten sensitivity. Other associations

include systemic autoimmune disorders and NSAID use.

B. Duodenum, bulb, endoscopic biopsy: Chronic peptic type

duodenitis. There is focal equivocal increase in intraepithelial

lymphocytes.

deltalima21 Newbie
deltalima21
Posted
  • Author

My case has been forwarded to a Celiac expert, so we will see what awaits.

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

Celiac.com Sponsor (A8-M):


Archived

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

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


  • Member Statistics

    • Total Members
      131,901
    • Most Online (within 30 mins)
      7,748
    tessycork47
    Newest Member
    tessycork47
    Joined
  • Celiac.com Sponsor (A20):

  • Forum Statistics

    • Total Topics
      121.4k
    • Total Posts
      1m
  • Celiac.com Sponsor (A22):



  • Celiac.com Sponsor (A21):


  • Upcoming Events

  • Posts

    • trents
      New (possible) celiac diagnosis

      By trents · Posted

      Welcome to the forum, @Judy M! Yes, he definitely needs to continue eating gluten until the day of the endoscopy. Not sure why the GI doc advised otherwise but it was a bum steer.  Celiac disease has a genetic component but also an "epigenetic" component. Let me explain. There are two main genes that have been identified as providing the "potential" to develop "active" celiac disease. We know them as HLA-DQ 2.5 (aka, HLA-DQ 2) and HLA-DQ8. Without one or both of these genes it is highly unlikely that a person will develop celiac disease at some point in their life. About 40% of the general population carry one or both of these two genes but only about 1% of the population develops active celiac disease. Thus, possessing the genetic potential for celiac disease is far less than deterministic. Most who have the potential never develop the disease. In order for the potential to develop celiac disease to turn into active celiac disease, some triggering stress event or events must "turn on" the latent genes. This triggering stress event can be a viral infection, some other medical event, or even prolonged psychological/emotional trauma. This part of the equation is difficult to quantify but this is the epigenetic dimension of the disease. Epigenetics has to do with the influence that environmental factors and things not coded into the DNA itself have to do in "turning on" susceptible genes. And this is why celiac disease can develop at any stage of life. Celiac disease is an autoimmune condition (not a food allergy) that causes inflammation in the lining of the small bowel. The ingestion of gluten causes the body to attack the cells of this lining which, over time, damages and destroys them, impairing the body's ability to absorb nutrients since this is the part of the intestinal track responsible for nutrient absorption and also causing numerous other food sensitivities such as dairy/lactose intolerance. There is another gluten-related disorder known as NCGS (Non Celiac Gluten Sensitivity or just, "gluten sensitivity") that is not autoimmune in nature and which does not damage the small bowel lining. However, NCGS shares many of the same symptoms with celiac disease such as gas, bloating, and diarrhea. It is also much more common than celiac disease. There is no test for NCGS so, because they share common symptoms, celiac disease must first be ruled out through formal testing for celiac disease. This is where your husband is right now. It should also be said that some experts believe NCGS can transition into celiac disease. I hope this helps.
    • Judy M
      New (possible) celiac diagnosis

      By Judy M · Posted

      My husband has had lactose intolerance for his entire life (he's 68 yo).  So, he's used to gastro issues. But for the past year he's been experiencing bouts of diarrhea that last for hours.  He finally went to his gastroenterologist ... several blood tests ruled out other maladies, but his celiac results are suspect.  He is scheduled for an endoscopy and colonoscopy in 2 weeks.  He was told to eat "gluten free" until the tests!!!  I, and he know nothing about this "diet" much less how to navigate his in daily life!! The more I read, the more my head is spinning.  So I guess I have 2 questions.  First, I read on this website that prior to testing, eat gluten so as not to compromise the testing!  Is that true? His primary care doctor told him to eat gluten free prior to testing!  I'm so confused.  Second, I read that celiac disease is genetic or caused by other ways such as surgery.  No family history but Gall bladder removal 7 years ago, maybe?  But how in God's name does something like this crop up and now is so awful he can't go a day without worrying.  He still works in Manhattan and considers himself lucky if he gets there without incident!  Advice from those who know would be appreciated!!!!!!!!!!!!
    • Scott Adams
      Patiently Waiting to See Results

      By Scott Adams · Posted

      You've done an excellent job of meticulously tracking the rash's unpredictable behavior, from its symmetrical spread and stubborn scabbing to the potential triggers you've identified, like the asthma medication and dietary changes. It's particularly telling that the rash seems to flare with wheat consumption, even though your initial blood test was negative—as you've noted, being off wheat before a test can sometimes lead to a false negative, and your description of the other symptoms—joint pain, brain fog, stomach issues—is very compelling. The symmetry of the rash is a crucial detail that often points toward an internal cause, such as an autoimmune response or a systemic reaction, rather than just an external irritant like a plant or mites. I hope your doctor tomorrow takes the time to listen carefully to all of this evidence you've gathered and works with you to find some real answers and effective relief. Don't be discouraged if the rash fluctuates; your detailed history is the most valuable tool you have for getting an accurate diagnosis.
    • Scott Adams
      Gluten free beer ?

      By Scott Adams · Posted

      In this case the beer is excellent, but for those who are super sensitive it is likely better to go the full gluten-free beer route. Lakefront Brewery (another sponsor!) has good gluten-free beer made without any gluten ingredients.
    • trents
      Patiently Waiting to See Results

      By trents · Posted

      Welcome to the forum, @catsrlife! Celiac disease can be diagnosed without committing to a full-blown "gluten challenge" if you get a skin biopsy done during an active outbreak of dermatitis herpetiformis, assuming that is what is causing the rash. There is no other known cause for dermatitis herpetiformis so it is definitive for celiac disease. You would need to find a dermatologist who is familiar with doing the biopsy correctly, however. The samples need to be taken next to the pustules, not on them . . . a mistake many dermatologists make when biopsying for dermatitis herpetiformis. 
×
×
  • 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.