What is celiac disease?
Celiac disease is a condition that has gained significant interest in the last two decades, and as a result, the prevalence of the disease has increased during this period. Is Novak Djokovic to blame for this, are we better doctors, or is it simply that there are more cases of celiac disease? The answer to this question is complex. Celiac disease has existed among us before Novak, before serological tests, but over time, with the advancement of technology, medicine as a profession, and individuals raising awareness about the disease, there has been more reflection on celiac disease, more testing, and ultimately, more diagnoses.
Essentially, celiac disease is an autoimmune disorder characterized by the body’s sensitivity to gluten. Consuming food products that contain gluten leads to a reaction in the body. The disease primarily affects the small intestine, disrupting its function. Further consequences can include osteoporosis, anemia, joint diseases, skin changes, deficiencies in certain vitamins and minerals in the blood serum, but ultimately, the disease is associated with intestinal dysfunction and a range of related complications. The consequences of the disease can range from mild to life-threatening complications in cases of refractory celiac disease, such as the development of enteropathy-associated lymphoma. The severity of the body’s reaction to celiac disease varies, from intense reactions such as cramps and diarrhea to “silent” celiac disease that can go unrecognized for years. Similarly, the amount of gluten required to cause symptoms is not the same for all patients (traces of gluten can trigger a reaction in some individuals).
The confirmation of celiac disease in adults usually involves two stages: serological positivity and confirmation through the collection of a duodenal mucosal sample during a gastroscopy. The most commonly determined antibodies are tissue transglutaminase antibodies (anti-tTg), followed by endomysial antibodies (EMA) and/or deamidated gliadin peptide antibodies (DGP). In terms of pathophysiology, the most well-known role is played by antibodies to tissue transglutaminase TG2, which are responsible for at least two functions: being the target autoantigen in the immune response and enhancing the immune stimulatory response when gluten is consumed.
The treatment of celiac disease consists of completely eliminating gluten from the diet, thus “resetting” the intestine over a certain period of time and allowing it to return to its normal function. What we have learned from experience today is that for some people, the improvement of symptoms and recovery of intestinal function occurs relatively quickly, while for others, it happens slowly and gradually. Celiac disease with a weak reactivity, or slower responders to gluten elimination, usually occurs in patients who are diagnosed with celiac disease in adulthood.
Collaboration between the physician and the patient, the patient’s motivation and desire for improvement, regular check-ups, and attention to the type of food the patient consumes are crucial for the treatment of celiac disease. In recent times (in line with the increased number of newly diagnosed cases in adulthood), we have encountered the concepts of slow-reactive celiac disease, refractory celiac disease, and celiac disease with persistent symptoms.
It is important to note that before proceeding further, we need to determine whether it is indeed celiac disease, whether the patient may unknowingly have gluten ingestion in certain foods (even in traces), and whether there may be other associated diseases alongside celiac disease (such as irritable bowel syndrome, which can mimic celiac symptoms even without pharmacological treatment). If all these questions are answered negatively, then we are dealing with one of the aforementioned forms of celiac disease.
Slow-reactive celiac disease is a type of disease that persists in patients for some time despite the discontinuation of gluten intake, and the patient may experience symptoms and/or laboratory tests may not normalize within the reference range. Slow-reactive celiac disease ultimately enters an asymptomatic phase and may resolve without the need for pharmacological interventions from a competent gastroenterologist, although symptoms may recur over time. Refractory and persistent celiac disease/symptomatology is a more severe form of the disease, and without the intervention of a gastroenterologist, symptoms usually do not subside, even if the patient is not exposed to further gluten influence, unless certain anti-inflammatory or immunomodulatory drugs are added. Refractory celiac disease is a known cause of enteropathy-associated lymphoma and can evolve into a life-threatening condition.
It is worth noting that there are currently medications being developed that are tissue transglutaminase TG2 inhibitors, which are in the final stages of testing and are expected to have promising results in the future for patients who still experience certain types of symptoms despite the discontinuation of gluten exposure. The final phase of testing is about to begin, and we are excited to see the results.
In conclusion, although celiac disease may be well-known and talked about recently, it can present itself in various ways, making it difficult to recognize at times, and it may take a long time to treat in order to achieve clinical and laboratory optimization. The key to everything, as with any disease, is the collaboration between the patient and the competent physician, as well as the patient’s education and motivation to work together to achieve a life without symptoms.
Dejan Bakula, MD, Gastroenterologist