Doctors diagnose refractory celiac disease when your intestines fail 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.
This may sound scary, but you probably don't have refractory celiac disease. Your odds of developing the condition are actually quite slim: one study found that only 1.5 percent of all celiac disease patients developed refractory 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.
Most Refractory Celiac Patients Have Weight Loss, Diarrhea
Refractory celiac disease patients share several common characteristics: most are middle-aged or older (the condition is almost never seen in children), most have lost weight, and four out of five have diarrhea.
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.
Refractory Celiac Diagnosis: Ruling Out Other Conditions
To be properly diagnosed with celiac disease, you must have an endoscopy with a biopsy that shows villous atrophy: damage to the tiny villi in your small intestine that help you digest your food. Although they're uncommon, there are other conditions that also can cause similar intestinal damage.
If you definitely do have celiac disease, the next step in the investigation will be to determine whether you're following the diet strictly, which could involve a meeting with a dietitian skilled in the gluten-free 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 consuming 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.
Refractory Celiac Disease Divided into Two Types
If you've been diagnosed with refractory celiac disease, you've been told you have one of two types: Type I or Type II. Your type is determined by special analyses of a particular white blood cell, known as a T-cell, present in your small intestine.
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.
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.
Learn more: Treating Refractive Celiac Disease
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Mooney P.D. et al. Treatment failure in coeliac disease: a practical guide to investigation and treatment of non-responsive and refractory coeliac disease. Journal of Gastrointestinal and Liver Diseases. 2012 Jun;21(2):197-203.
Roshan B. et al. The incidence and clinical spectrum of refractory celiac disease in a north american referral center. American Journal of Gastroenterology. 2011 May;106(5):923-8. doi: 10.1038/ajg.2011.104. Epub 2011 Apr 5.