I’ve seen too many posts recently about questionable diagnosis – where blood tests and biopsies don’t agree, latent celiac, mild and severe celiac, genetic tests say I could have celiac so I must have it, and my favorite – I feel better on a gluten free diet so I must be Celiac.
Ugh. I hate these posts. I hate them all. So, here goes my rant – you can stop here and probably should if you don’t want me to make you mad.
I’m also a little bit grumpy today, so I might be spicier than usual. You’ve been warned.
Last chance.
The gold standard of Celiac diagnosis is blood tests with positive results, genetic testing confirming HLA DQ2.5 or HLA DQ8, and positive biopsy results. That is the GOLD standard. Nobody can ever, ever question that diagnosis.
If the blood work and biopsy do not agree, then more research must be done. It might be Celiac or it might not. We aren’t sure. Any patient that accepts a celiac diagnosis when the blood work and biopsy don’t agree is a fool.
Here are the consequences. You move, you change doctors, your doctor retires, anything changes and you don’t have the biopsy and blood work to prove it – guess what. They will want you to do a gluten challenge. Yay. Now, doing the gluten challenge after removing gluten from your diet is terrible and much worse than if you had kept eating gluten. Kind of like when you remove dairy and try to add it back, it causes a lot of problems because the bacteria in your gut that processed the dairy have been starved and are no longer functioning. Same thing with gluten – you will be miserable. You will then go to the doctor and say there is no way you can complete the challenge. Then you go on Facebook complaining that your doctor wanted you to do a gluten challenge and how dare they because you were already diagnosed.
Ugh, you see how this causes a problem. If the biopsy and blood work do not agree, please, please, please, keep looking. There are a thousand things that could have gone wrong and you may still have celiac. But it needs to be sorted instead of giving you a pat on the head, a celiac diagnosis, and sending you on your way. This will save you a lot of heart ache later, trust me.
Latent celiac is a real thing. It is when your blood work is sky high and they see a ton of intraepithelial lyphocytes in your biopsy, but no villous atrophy. This is rare within a rare disease. This requires a knowledgeable, celiac-savvy, doctor to diagnose. In my mind, I wonder if it really is celiac or something else. But, that’s just me, but I won’t dismiss you if you legit have this diagnosis.
Neither mild nor severe celiac exist. Celiac is a destructive autoimmune disease that wreaks havoc on your systems. You either have it or you don’t. What is mild celiac? What is severe celiac? Are they technical terms because I haven’t found either of these terms in the medical literature? Celiac isn’t staged like cancer. It is a yes or no. If the doctor says you have mild celiac, are they hedging their bets? Do they say its severe to impart how serious it is? I don’t know, but you need answers. What was your Marsh score? What tests did the doctor run for your blood tests? Were any of them outside of normal? Please get more information from your doctor and understand what they are talking about so you understand.
Genetic testing is a wonderful thing. It gives us insight into things we might one day get. But genetics isn’t destiny. Over 40% of the population carries the celiac genetics, but only 1% get the disease. Saying I have celiac because I carry the genes without any testing is like saying I have breast cancer because I carry the BRCA genetics. I’ve seen more than enough people say this on Facebook to make my head explode. Nope, it just means you are at higher risk and must be evaluated more carefully.
Also, not having the genetics gives you an almost 0% chance of the disease. If you’ve been diagnosed with celiac and genetic tests say you do not carry the genetics, you need to re-confirm the diagnosis with your doctor because something might be wrong.
Finally, my favorite. Imagine as you read this last paragraph that I’m talking in a loud voice as you read this. The I feel better on a gluten free diet so I must have celiac disease people. Nope. Now is when you really turn up the volume on the voice that is reading this, I want the people in the cheap seats to hear this one! Of course you feel better – you aren’t eating a bunch of crap because all of the crap has gluten. You cut out bread and pasta and are gluten free – pluuuease. It is virtually impossible for those of us with Celiac to do it right, much less posers who think buying gluten free bread makes them celiac. You don’t have it until you meet the standards for diagnosis and changing your diet doesn’t count.
Anyway, I’m a little grumpy and I feel a lot better for getting that off my chest. I’ve seen too many posts from people without medical degrees, talking about how biopsy is the gold standard for diagnosis, or blood testing is more accurate than biopsy, or whatever. Just know that if you don’t fit into the easy pattern for diagnosis, you and your doctor should do some more investigating. That is my point.
I tested positive for the one of the celiac genes but negative on blood and biopsy. They also said my villi were still preserved.
I guess that means I am at a high risk of developing celiac but the gene hasn’t activated yet. I still avoid gluten because it gives me GI problems regardless.
My mom has 2 celiac genes and never developed it. She’s 74. She eats gluten without issue! Genetics isn’t destiny just possibility.