This site is intended to share the answers I found in my quest to understand celiac disease with family, friends, and others who may be trying to find the answers I too have been seeking. This is a compilation of answers from various sources (clearly listed and linked prior to the quotes).
What Is Refractory Celiac Disease?
“Doctors diagnose refractory celiac disease when your small intestine fails to heal, despite a careful gluten-free diet. Here’s more information about the condition, its diagnosis and your treatment options.”
"However, one in 10 celiac patients doesn't see that relief or finds that her celiac disease symptoms recur after having been in abeyance for a while. If this is the case for you, your doctor may mention the possibility of refractory celiac disease.
"Refractory celiac disease occurs when your small intestine fails to heal and you continue to suffer from villous atrophy, even though you've been following a strict, careful gluten-free diet for a year or more. People with true refractory celiac disease—which is a very rare condition—are at much higher risk for serious complications, including a form of non-Hodgkin lymphoma associated with celiac disease."
"And for most people who experience ongoing symptoms, there's another cause — usually, it's microscopic amounts of gluten in your diet that are causing your continuing symptoms, although in a few cases your doctor may find that you don't really have celiac disease after all.
"But regardless of the odds of refractory celiac disease, if you're strictly adhering to the diet and find that you're still not feeling better, your doctor will likely want to investigate further to find the problem.
"And if you do wind up with a diagnosis of refractory celiac, there are treatments that may help you heal."
"In addition to their ongoing symptoms, most people with refractory celiac have malnutrition and vitamin deficiencies that indicate severe malabsorption.
"However, other conditions can cause these same symptoms. The first step in diagnosing refractory celiac disease (or, more likely, ruling out the condition) will be for your doctor to determine whether your celiac disease testing and diagnosis was correct in the first place."
"To back up your original diagnosis, your doctor may want to perform repeat celiac blood tests and a test to see if you have one of the celiac disease genes.
"If you definitely do have celiac disease, the next step in the investigation will be to determine whether you're following the gluten-free diet strictly. That could involve a meeting with a dietitian skilled in the intricacies of the diet.
"Frankly, most people overestimate how well they follow the diet. For example, one medical study found that the majority of patients who continued to have symptoms following their diagnosis were still consuming some gluten, even though they believed they understood the diet and how to spot hidden gluten in food products.
"Common slip-ups include missing gluten on food labels, eating out too often and eating too many processed foods with poor labeling.
"It's quite possible that a "reboot" of your diet can help solve any problems with continuing symptoms. But if it doesn't, then your doctor should look for other potential causes, including lactose malabsorption, small intestine bacterial overgrowth, pancreatic insufficiency and irritable bowel syndrome (for more on this, see: Celiac Disease vs. IBS - Which Is It?).
"Once these other potential causes of ongoing symptoms have been ruled out, then your doctor may consider a diagnosis of refractory celiac disease. At some celiac disease centers, specialists are using capsule endoscopy to view the entire small intestine and confirm the diagnosis."
"People with Type I have normal T-cells in their intestinal lining, while people with Type II have abnormal T-cells. Type I is much more common than Type II: in one study conducted in Boston, only about 15 percent of all refractory celiac disease patients had the Type II form of the condition.
"In addition to being rarer, Type II is the more dangerous form of refractory celiac disease: it doesn't always respond well to treatment, and it's the most likely to lead to non-Hodgkin lymphoma. In fact, clinicians consider it to be a low-grade form of lymphoma — one with a poor prognosis.
The Bottom Line
"Since true refractory celiac disease is so rare, patients who've been diagnosed with either form will most likely be referred to a celiac center with experience treating refractory forms of the disease. There, clinicians have several different approaches they can try to curb the progression of the disease and induce healing."