I wanted to repost this because I want all of us to think about it more often. I sometimes think that this is underdiagnosed. The real issue this brings up is are we continually exposed to gluten that is causing ongoing symptoms or is it that there are more undiagnosed Refractory Celiac disease than is really out there. I’m starting to think that it is a combination of both. We are exposed to gluten, no matter how hard we try, more often than expected, and refractory celiac is underdiagnosed. But this is where we are. If you have ongoing symptoms, please continue to have a conversation with your doctor regarding the ongoing symptoms and make sure to get refractory celiac picked up as soon as possible.
Refractory Celiac (RCD) disease is something many of us worry about. We worry because we know with each cross-contamination or each mistake with an ingredient while cooking, we are potentially one step closer to this disease. But it seems to be a much more serious and different, but related disease to Celiac.
Here’s the good part – Refractory Celiac is rare. It affects less than 1% of the diagnosed Celiac population. In the US, if 3m people have Celiac and 50% of those are undiagnosed, you’ve got 1.5m people. Of those 1.5m Celiac sufferers, approximately 15,000 people will have Refractory Celiac. It affects women more than men. It is exceptionally rare before 30. Most cases of RCD are diagnosed around 50 or after.
Refractory Celiac has 2 types. Type 1 typically responds to steroids or other immunosuppresive drugs and rarely leads to cancer. Type 2 does not respond to drugs and is more likely to lead to Cancer. You don’t want Refractory Celiac Type 2. But we will get to that later.
Refractory Celiac is first considered if six to twelve months after diagnosis and on gluten free diet, symptoms got better and then they return. The first step is to revisit the initial diagnosis. Confirm blood tests and biopsies were accurate. Second, reconfirm that no gluten is sneaking into the diet. Normal TTg and EMA testing does not exclude a diagnosis of RCD – it simply indicates adherence to a gluten free diet. This is the point where most of us get stuck. Gluten is everywhere, but a completely gluten free diet is attainable, though very hard.
Next up, another upper endoscopy with biopsy. The biopsy will tell a lots. First it seems, they are looking for anything other than Celiac that could be causing villious atrophy. They list over 20 diseases that cause villious atrophy including adult-onset autoimmune enteropathy, hypogammaglobulinemia, SIBO, giardia infection, and about 15 other things I’ve never heard of. This is why blood tests and endoscopy must be completed and match in order for initial celiac diagnosis – lots of things cause villious atrophy. Second, the damage is pretty extensive. During the procedure the doctors can see lots of scalloping and ulcerations.
Here’s where the real differences are between RCD1 and RCD2- in the intraephithelial lymphocytes (IELs). More than half of the IELs are missing normal surface markers in RCD2. When these markers are gone, is when the Celiac cancer or enteropathy-associated T-cell lymphoma starts to appear. RCD2 does not respond typically to steroids or other immunosupressive drugs.
RCD1 is not quite as damaging, but it is still worse than regular Celiac. Prednisone and budesonide are typically used to treat RCD1. Another potential treatment involves predinsone and azathioprine. Many times, once you find the right dosage and medicines, these drugs are clinically effective to induce remission and mucosal recovery.
Many of us have ongoing symptoms from Celiac. After a time, we start to think, hmmmm, is refractory Celiac something I should look into? I think it is always wise to talk to your doctor about ongoing symptoms and issues – especially if you were better for a while but have gotten sick again.
Know that you will probably have to advocate for yourself for a Refractory Celiac diagnosis because it is very rare. I know I’ve advocated for a Refractory Celiac diagnosis because I was so sick for so long. I would take predinsone for some other unrelated ailment and my Celiac symptoms would be a lot better. My doctor told me I would have to go to a Celiac center for diagnosis, but with this information in hand, I think I can make a better argument. We were going to try a course of budesonide before I did the Nexvax trial. We will probably have that discussion again soon.
I’m not saying if your symptoms aren’t better that you have Refractory Celiac. Hopefully, if you symptoms aren’t better you are more well prepared to have an informed discussion about RCD and if it might be affecting you.