Is My Biopsy Wrong?

[jlaw]

Hi friends, I have been in and out of this forum for a bit and now wanted to update you on the latest twist. After my skin biopsy, i have been gluten-free for nearly a year. After extremely extensive rash (scalp to soles) my skin is now nearly free of active lesions. Lots of the post-lesion marks though! 

We live in India but currently back home in Aus for various reasons for a couple of months. One of the main reasons was that there is a doctor here who specialises in DH right near my hometown. Before my appointment with him, I decided to have some tests done for routine check up. I wanted to have the kids tested for the coeliac genes and while I was there, I had mine done as well, just for fun. And we all came back negative. Yep, that's right. I have a positive DH biopsy, yet negative for the genes. 

So I take this to my DH expert (I really really like him and trust him a lot) who says I am a 'puzzle' but my skin actually looks a lot like lichen planus (anyone else with experience with this??). No mucosal changes though. So he says the only way I can be sure is a gluten challenge. Since I've never had the gut issues really (not that I can feel) I agreed. I have known since a baby I am gluten intolerant, so I'm expecting the usual headaches/fatigue but maybe worth it if I can rule out DH. I still have a lot to get my head around. I have spent a lot of time mentally adjusting to coeliac/DH and maybe all for nothing. Will keep you posted on the gluten challenge. He says it could take 4-6 weeks to get anything decent enough to biopsy, and if no rash comes I can assume it's lichen planus.

 

Any thoughts on this?

[sisterlynr]

Go for it . . . I've not had success with Dapsone or being gluten-free since October of 2012.  Had this horrible rash from head to my feet since February 27, 2012.  I know that date!  My sister was here for vacation and flew home the same day that I broke out.  

 

I just posted about my experience this morning.  Hey, if this isn't responding to gluten-free and Dapsone, let's find out what is going on in my body!

 

Good luck and wish you the best!

 

~ Lyn ~

[Adalaide]

I hate to say it, but it is my opinion that there is no reason to go through the pain and suffering of a gluten trial for a new biopsy if you already had a positive one. The genetic test could actually be wrong. If they didn't do the right test, they wouldn't see the right parts of the genes, and it is now generally understood that there are almost certainly more than those two genes involved. There is no way that the science has entirely determined exactly every gene associated with celiac. And, if you are are going to continue with the challenge, just so you don't end up in the position again later don't stop at a skin biopsy. Go for broke and do both. There is no point walking through hell and only going halfway with the biopsies.

 

https://www.celiac.com/articles/21567/1/Ten-Facts-About-Celiac-Disease-Genetic-Testing/Page1.html

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[jlaw]

Lyn is it possible that you could have lichens planus??

 

Adalaide I've not heard of gene tests being inaccurate. Have you heard of cases like this? I'm into day 3 now and still doing ok...

[bartfull]

I wouldn't risk eating gluten if it meant a possibility that the DH would come back. If eating gluten-free cleared up your rash, what difference does it make? No matter if it was true DH or something else, it cleared up, right? And you said you had headaches and fatigue that cleared up too. So, maybe it's NCGI, but either way, you know gluten gives you problems. I'd stick to a gluten-free diet for life.

[jlaw]

Thankks Bartfull, but I guess I'm looking at it from the other side. What if it's a chance I don't have DH? I think it's worth it, given that it's such a huge, life long change. Lichen Planus clears up by itself after running its course, so it was not necessarily eating gluten-free that cleared my rash. I will always be eating low gluten regardless because I have had issues since infancy. But there is a big difference in terms of vigilance and lifestyle changes between being intolerant and having coeliacs. 

[Adalaide]

Lyn is it possible that you could have lichens planus??

 

Adalaide I've not heard of gene tests being inaccurate. Have you heard of cases like this? I'm into day 3 now and still doing ok...

 

That first link I provided explains how a genetic test can miss even a DQ2 or 8 gene. The second explains that there is an additional gene involved, DQ7 which is more fully explained in that link. And yes, I have heard of people who are biopsy diagnosed who are then genetically tested and lacking a DQ2 or 8 and then getting a doctor all pissy at them and trying to rescind a diagnosis even though the biopsy was positive and they responded well to the gluten free diet. It isn't like we've exactly mapped the entire human genome... moron doctors.

[Carol from NYC]

Hi friends, I have been in and out of this forum for a bit and now wanted to update you on the latest twist. After my skin biopsy, i have been gluten-free for nearly a year. After extremely extensive rash (scalp to soles) my skin is now nearly free of active lesions. Lots of the post-lesion marks though! 

We live in India but currently back home in Aus for various reasons for a couple of months. One of the main reasons was that there is a doctor here who specialises in DH right near my hometown. Before my appointment with him, I decided to have some tests done for routine check up. I wanted to have the kids tested for the coeliac genes and while I was there, I had mine done as well, just for fun. And we all came back negative. Yep, that's right. I have a positive DH biopsy, yet negative for the genes. 

So I take this to my DH expert (I really really like him and trust him a lot) who says I am a 'puzzle' but my skin actually looks a lot like lichen planus (anyone else with experience with this??). No mucosal changes though. So he says the only way I can be sure is a gluten challenge. Since I've never had the gut issues really (not that I can feel) I agreed. I have known since a baby I am gluten intolerant, so I'm expecting the usual headaches/fatigue but maybe worth it if I can rule out DH. I still have a lot to get my head around. I have spent a lot of time mentally adjusting to coeliac/DH and maybe all for nothing. Will keep you posted on the gluten challenge. He says it could take 4-6 weeks to get anything decent enough to biopsy, and if no rash comes I can assume it's lichen planus.

 

Any thoughts on this?

I had a similar experience  I had a lichen planus diagnosis, too but tested negatively for DH.  (Not convinced the dr. did the biopsy correctly, however.) A few years earlier, I had a related condition that resulted in a few patches of permanent hair loss. Yet, I was covered with DH so I eliminated gluten and the DH sores went away.  The dr. couldn't explain the discrepancy but said since elimiInating gluten made the rash go away, I should stick with it.  I don't really mind being gluten free anyway.  Seems like people around me mind it more than I do! Oh, I also have another autoimmune condition, Hashimoto's Disease (thyroid).