Also known as intractable celiac sprue, the refractory celiac disease (RCD) is a rare and unresponsive case of celiac disease whereby the small intestine fails to heal despite the patient staying on a gluten-free diet for even up to 12 months. At this state, a patient is susceptible to various types of cancer.
It's estimated that about 1.5 to five percent of celiac disease patients are likely to suffer from the refractory celiac disease. Celiac disease is a chronic inflammatory that usually causes immune-mediated damage to the intestinal villi. This condition usually occurs due to the consumption of gliadin, which is a protein that is found in foods that contain gluten.
A gluten-free diet is the only practical treatment approach for celiac disease, and some patients will experience improvements within two weeks of avoiding gluten. However, in some people, despite the gluten-free diet and other treatments, the condition usually remains unresponsive. At this point, it's now referred to as a refractory celiac disease.
Doctors divide refractory celiac disease into two types: Type I and II. The type a patient has is determined by analyzing a particular white blood cell present in the small intestine known as T-Cell.
Type I usually has a normal intraepithelial lymphocyte phenotype. Patients with this type of RCD usually respond well to a gluten-free diet, nutritional support, and pharmacologic therapies.
Type II has premalignant lymphocytes and patients suffering from this type usually experience severe symptoms, have a poor response to steroids, frequently need intravenous nutrition, and tend to get complications such as ulcerative jejunitis, which might grow to T-cell lymphoma. Type II patients are vulnerable to infections, wasting, and diarrhea. Their mortality rate is somewhat close to that of cancer patients.
RCD share several characteristics with celiac disease. Most patients with this condition are usually middle-aged or older. It's almost impossible to find RCD in children. Weight loss is the common symptom of the condition, and about four out five patients usually experience diarrhea.
These symptoms are usually ongoing. Plus, most patients may also develop vitamin deficiencies and malnutrition. These symptoms might occur due to severe malabsorption.
Bear in mind that some conditions usually have these symptoms. Therefore, having them does not necessarily mean you have RCD. It's only after a medical diagnosis that you can know if you have the condition.
The first step when you visit a doctor is usually to determine if your celiac disease diagnosis was correct. After that, you will have an endoscopy, a procedure in which the doctor uses an endoscope to see the lining of your small intestine. A biopsy is also important in showing a villous atrophy, damage to the intestinal villi that help in food digestion.
If there's damage to the villi, more tests will be needed to verify that it's caused by RCD since some conditions cause similar damage to the villi. You doctor will perform the celiac blood tests and another test to find out if you have one of the celiac disease genes.
Should you have the celiac genes, the doctor will want to know whether you adhere to the guidelines of a gluten-free diet. You can have a seating with a dietitian to determine this. In most cases, people continue to experience the symptoms even after a diagnosis because they don't follow the diet, or some just don't know that what they're eating contains gluten.
Refractory celiac disease is a very rare condition, so the amount of information on it is quite limited. Treatments generally involve focusing on taking a gluten-free diet. Drug treatments, such as chemotherapy, steroids, immunosuppressive drugs or a combination of these, may be given to a patient, too.
You doctor will monitor the performance of your treatment well. Even if you're not responding to treatment, don't stop eating a gluten-free diet. Research on this condition is ongoing, and experts are trying to find out if an anti-interleukin-15 monoclonal antibody can be used to reverse the damage caused by gluten.
Even though RCD is rare and the chances of getting it are very low, celiac disease patients are usually advised to seek medical checkups to monitor their condition. Following the doctor's instruction and eating a gluten-free diet are the main points for this condition.