GI DX celiac despite neg serology and no biopsy

[Roses8721]

Help. I’m spiraling. Years of extensive symptoms: 

What could this be?

Years of:

Mildly elevated alk and alt

Fatty liver

Random days of feeling like I’m coming down w flu but no fever and nobody else in house sick

Intermittent diarrhea

Severe abdominal distension

Long history of cavities and enamel deficiency

Sound sensitivity

Anxiety and depression

Low libido

Sun skin allergy

Frequent fatigue

ended up seeing PCP because I looked 8 mo preg. Started gluten-free diet then celiac serology negative. SW GI Dr dx me w celiac as I had been in bed for 3 days after eating gluten after cutting. GI said not to do biopsy because it was clear what was going on and added to chart. My spiral is not seeing anywhere this is done and want to see if anyone else has dealt w this. If not celiac idk what else I will do. Family history or celiac as well as a death related to this. 

[trents]

Welcome to the forum, @Roses8721!

How long were you off gluten before getting the celiac blood testing done? The testing is not valid after having been gluten free for a significant period of time.

Many of your symptoms align with celiac disease.

[Roses8721]

Two months. In extreme situations like this where it’s clearly a smoking gun? I’m in LA so went to a very big hospital for pcp and gi and nutritionist 

[trents]

If you were off gluten for two months that would have been long enough to invalidate the celiac blood antibody testing. Many people make the same mistake. They experiment with the gluten free diet before seeking formal testing. Once you remove gluten from the diet the antibodies stop being produced and those that are already in circulation begin to be removed and often drop below detectable levels. To pursue valid testing for celiac disease you would need to resume gluten consumption equivalent to the amount found in 4-6 slices of wheat bread daily for at least two weeks, preferably longer. These are the most recent guidelines for the "gluten challenge". Without formal testing there is no way to distinguish between celiac disease and gluten sensitivity since their symptoms overlap. However, celiac disease is an autoimmune disorder that damages the small bowel lining, not true of gluten sensitivity. There is no test available for gluten sensitivity so celiac disease must first be ruled out.

By the way, elevated liver enzymes was what led to my celiac diagnosis almost 25 years ago.

[RMJ]

It sounds like you have a very reasonable GI doctor, who diagnosed you based on family history and symptoms after eating gluten. I would consider you lucky! The other option would be to make yourself very sick by doing weeks of a gluten challenge prior to an endoscopy.

[trents]

I tend to agree with RMJ. Your doc took the reasonable and practical approach to diagnosis. All things considered, it was the right way to go. However, if you have first degree relatives that show signs of possible celiac disease, urge them to get formally tested before they start the gluten free diet.

[Wheatwacked]

Just a gluten free diet is not enough.  Now you have to identify and replenish your malnutrition.  Celiac disease is co-morbid with malabsorption syndrome.  Low vitamin D, Low Thiamine caused Gastointeston Beriberi, low choline, low iodine are common the general population, and in newly diagnosed Celiacs in the western culture its is more likely.  It takes time to heal and you need to focus on vitamins and minerals.  Gluten free foods are not fortified like regular processed foods.  

[Roses8721]

So you would be good with the diagnosis and not worry to check genetics etc etc? Appreciate your words!

[trents]

Certainly, it would b wise to have a gene test done if your physician is open to it as it would provide some more data to understand what's going on. But keep in mind that the genetic test for celiac disease cannot be used as to diagnose celiac disease, only to establish the potential to develop active celiac disease. About 40% of the general population possess one or both of the primary genes known to be associated with the development of active celiac disease but only about 1% of the population actually develop active celiac disease. So, the gene test is an effective "rule out" tool but not an effective diagnostic tool.

[Roses8721]

Yes, i pulled raw ancetry data and saw i have 2/3 markers for DQ2.2 but have heard from friends in genetics that this raw data can be wildly innacurate

[trents]

Celiac disease requires both genetic potential and a triggering stress event to activate the genes. Otherwise it remains dormant and only a potential problem. So having the genetic potential is not deterministic for celiac disease. Many more people have the genes than actually develop the disease. But if you don't have the genes, the symptoms are likely being caused by something else.

[Roses8721]

Ended up demanding HLA and I’m negative for both. So assuming this is NCGs now? PCP seems unsure and GI is referring to genetics which I don’t get. 
about to lose my mind

[trents]

Yes, if you are convinced gluten is causing you problems then it would seem to come down to NCGS but you may also have other intolerances.

[Wheatwacked]

Yes, I would be good with the diagnosis. 

Quote

Are You Confused About Your Celiac Disease Lab Results?

Dr Vikki Petersen - "Personally I think having one gene, let alone two is more than enough reason to embark on a gluten-free diet if you are experiencing any health issues." https://rootcausemedicalclinics.com/confused-celiac-disease-lab-results/        

While NCGS isn't a malabsorptive disease like celiac disease, inflammation and restricted diets can impact Vitamin D levels.  Recovery from either disease requires avoiding gluten.  celiac disease may take a longer recovery than NCGS because in celiac disease there is intestional damage to the cilia that has to self repair in addition to the nutritional deficiencies.   Nonceliac Gluten Sensitivity

Dr. Weston Price's research in the 1930s showed that diets rich in minerals and fat-soluble vitamins (A, D3, K2) promoted well-mineralized teeth, while deficiencies led to weaker enamel.

Fatty liver, Intermittent diarrhea, Severe abdominal distension
Choline deficiency causes abnormal deposition of fat in the liver, which results in a condition called nonalcoholic fatty liver disease. In some people, choline deficiency causes muscle damage. https://lpi.oregonstate.edu/mic/other-nutrients/choline   

Choline is a large part if the bile salts for fat digestion, Acetycholine, a neural transmitter, mitochondria membrane structure, and along with folate, B12, and B6 recycles homocysteine  High homocysteine can damage artery linings.

Low vitamin D levels are associated with increased symptoms of depression and anxiety,  autoimmune diseases and most of your symptoms.

 

 

[knitty kitty]

8 hours ago, Roses8721 said:

Ended up demanding HLA and I’m negative for both. So assuming this is NCGs now? PCP seems unsure and GI is referring to genetics which I don’t get. 
about to lose my mind

How can you be negative for HLA?  

What markers did you have here?

Curiouser and curiouser...

On 12/4/2025 at 4:16 PM, Roses8721 said:

Yes, i pulled raw ancetry data and saw i have 2/3 markers for DQ2.2 but have heard from friends in genetics that this raw data can be wildly innacurate

 

[Roses8721]

Neg for HLA dq8 and dq2

[knitty kitty]

There are other Celiac genes.

HLA DQ 2 and HLA DQ 8 show up in people from Northern European descent.  

People of Mediterranean descent have HLA DQ 7. 

People of Asian descent have HLA DQ 9.  

There's other Indigenous populations that have other HLA genes that code for Celiac disease.  

Are you still having symptoms?  

What do you include in your diet?  Are you vegetarian?

Are you taking any prescription medication?  Omeprazole?  Metformin?  

Do you have anemia?  Thyroid problems?

Are you taking any vitamins or herbal supplements?