Prepared by Aktif International Hospital Editorial Board .

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What you need to know about celiac disease

Celiac disease is often associated only with digestive problems such as abdominal pain, bloating, or diarrhea. However, it is actually a chronic immune response triggered by gluten in genetically susceptible individuals and can affect not only the intestines but the entire body.

This condition is also frequently encountered in people who have no digestive complaints but present with problems such as persistent iron deficiency, chronic fatigue, or unexplained osteoporosis. Not every patient experiences the disease in the same way, and because similar findings can overlap with other intestinal disorders, symptoms alone are not sufficient for a definitive diagnosis. Abruptly changing your diet based on hearsay can also make the diagnostic process more difficult.

So, how should symptoms be interpreted when celiac disease is suspected, which medical steps are followed to establish the diagnosis, and what should you pay attention to when transitioning to a gluten-free lifestyle? In the rest of this article, we examine these processes step by step to answer the questions you may have.

What causes celiac disease? Who is more likely to develop it?

Three main factors work together in the development of celiac disease: genetic susceptibility, gluten consumption, and an excessive immune system response. When a susceptible person consumes foods containing wheat, barley, or rye, the immune system perceives gluten as a threat. As a result, the body launches an immune response that damages the lining of the small intestine.

However, it is still not fully understood why the disease is triggered only in some people with a genetic predisposition. Current research is investigating whether changes in the gut microbiome or certain infections during early childhood may contribute to initiating this process. Celiac disease is also seen more frequently alongside certain conditions than in the general population. These risk factors include:

Having a first-degree relative with celiac disease
Having autoimmune conditions such as type 1 diabetes or Hashimoto’s thyroiditis
Having chromosomal conditions such as Down syndrome, Turner syndrome, or Williams syndrome

It is particularly important for people with these risk factors to consider the possibility of celiac disease during a medical evaluation, even when they do not have obvious digestive symptoms.

Having a family member with celiac disease is often a source of concern. However, having a first-degree relative with celiac disease does not necessarily mean that you will also develop the condition. For example, many people in the general population carry the HLA-DQ2 or HLA-DQ8 genes that are directly associated with celiac disease, yet only a small proportion of those carrying these genes actually develop the disease. In other words, genetic susceptibility alone does not mean that a person has celiac disease.

Can celiac disease develop later in life? Age and possible triggers

When people who have consumed gluten for many years are first diagnosed with celiac disease, one of their most common reactions is difficulty understanding why the condition has appeared now despite causing no obvious problems in the past. However, not having noticed any signs of the disease previously does not guarantee that it will never develop later.

Even if you experienced no symptoms during childhood or adolescence, you may be diagnosed with celiac disease in adulthood during investigations for iron deficiency, persistent bloating, chronic fatigue, or unexplained bone problems.

The age at which genetic susceptibility develops into active disease varies from person to person. Therefore, suspicious symptoms that begin later in life should not be ignored simply because there were no signs of the disease in the past. Medical evaluation is necessary to identify the underlying cause.

What are the symptoms of celiac disease?

When trying to understand the signals your body is giving you, it is important to know that celiac disease can behave almost like a chameleon. Symptoms vary so widely from person to person that the condition may sometimes interfere with daily life through severe intestinal problems, while in other cases it may remain silent for years and only reveal itself through persistent vitamin deficiencies detected during routine blood tests.

For this reason, celiac disease should not be considered solely a digestive disorder. Symptoms of celiac disease may include:

Persistent abdominal bloating and gas
Prolonged diarrhea or episodes of recurrent diarrhea
Constipation
Abdominal pain and cramps
Nausea and vomiting
Foul-smelling, greasy, and unusually bulky stools
Unintentional and unexplained weight loss
Persistent fatigue and becoming tired easily despite adequate rest
Anemia caused by iron, vitamin B12, or folic acid deficiency
Recurrent mouth ulcers
Bone or joint pain
Unexplained headaches
Neurological symptoms such as numbness and tingling in the hands and feet

Another less well-known but clinically characteristic sign of celiac disease is a skin rash known as dermatitis herpetiformis. These symmetrical, intensely itchy, blistering lesions may appear on the elbows, knees, scalp, or buttocks and can be a direct sign of celiac disease even in people who have no gastrointestinal symptoms.

It is important to emphasize that none of the symptoms listed above are specific only to celiac disease. Therefore, although paying attention to your body is important, seeking evaluation from a specialist rather than trying to diagnose yourself based on symptom lists found online is the safest approach.

Why are celiac disease symptoms different in children and adults?

Although celiac disease works through the same basic mechanism in every age group, the stage of life a person is in affects how the symptoms appear. The main reason for this difference is that children are actively growing and developing, whereas adults are primarily maintaining tissues and nutritional reserves that are already established.

When damage to the small intestine disrupts nutrient absorption, the body may no longer receive enough energy and nutrients required for growth. In children, this often begins with noticeable digestive complaints such as diarrhea and abdominal bloating. However, the most striking effects may appear in physical development. Failure to gain the expected amount of weight, slowed height growth, or delayed puberty may be among the clearest manifestations of malabsorption in children.

In adults, because the growth process has already been completed, the disease may follow a more subtle course. While the body attempts to compensate for the condition over many years, its nutritional reserves may gradually become depleted. As a result, adult patients may have no intestinal symptoms at all and may first seek medical attention because of warning signs such as chronic fatigue or osteoporosis developing at an unusually young age.

How is celiac disease diagnosed?

Because the symptoms of celiac disease can overlap with many different conditions, a definitive diagnosis cannot be made based on symptoms alone. After reviewing your medical history, your doctor may follow the steps below to confirm the diagnosis:

Specific blood tests (serology): Antibody testing is usually the first step in the diagnostic process. Tests such as tTG-IgA (tissue transglutaminase IgA) are particularly important for detecting immune antibodies associated with celiac disease. A positive blood test is a strong indication of the disease, but by itself it is generally not sufficient to make the final diagnosis.
Endoscopy and small intestinal biopsy: Particularly in adults, biopsy is an important method used to confirm the diagnosis. A thin tube with a camera and light at its tip is passed into the first part of the small intestine. Tiny tissue samples are then collected and examined under a microscope to determine whether the characteristic intestinal damage associated with gluten exposure is present.
Genetic testing: Genetic testing may be considered when blood test and biopsy results do not agree or when the diagnosis remains uncertain. As mentioned earlier, these genetic tests are generally more useful for ruling out the possibility of celiac disease than for proving that the disease is present.

Should you stop eating gluten before celiac disease testing?

One of the most common mistakes made during the diagnostic process is assuming that there must be a direct relationship between gluten and symptoms without obtaining a proper medical evaluation. For example, if symptoms improve after gluten is completely removed from the diet, concluding that the person must have celiac disease and beginning a self-directed diet without consulting a doctor can be misleading.

Improvement in symptoms after eliminating gluten is not sufficient to diagnose celiac disease. Moreover, this premature approach can make establishing the correct diagnosis significantly more difficult.

For celiac disease tests to provide reliable results, your body generally needs to be exposed to gluten at the time of testing. If you eliminate gluten before the tests, antibody levels in the blood may begin to fall and the intestinal tissue may start to heal. As a result, test results may appear normal even when celiac disease is actually present.

How is celiac disease treated? Can it be completely cured?

The word treatment usually brings to mind taking medication and completely eliminating the underlying condition. However, in celiac disease, the most important part of treatment is not found in a pharmacy but in your diet. Currently, there is no medication that completely eliminates the disease or allows people with celiac disease to return to unrestricted gluten consumption. The only established and most effective treatment is strict lifelong adherence to a gluten-free diet.

The treatment process may include the following steps:

Once a gluten-free diet is started, symptoms such as bloating, diarrhea, and abdominal pain often begin to improve within a few weeks. However, complete healing of the small intestinal tissue may take months and, in some cases, years.
Years of malabsorption may have depleted your body’s vitamin and mineral stores. Your doctor may identify deficiencies in iron, folic acid, vitamin B12, vitamin D, or calcium and add appropriate medical supplementation to your treatment plan.
In some cases, symptoms may continue despite strict adherence to a gluten-free diet. Rather than immediately considering the treatment unsuccessful, your doctor may investigate hidden sources of gluten exposure, accompanying lactose intolerance, irritable bowel syndrome, or the very rare possibility of refractory celiac disease.

Because celiac disease is a genetically based, lifelong chronic condition, the disease itself does not disappear. However, when a strict gluten-free diet is followed consistently, intestinal damage can heal, symptoms may resolve, and people with the condition can continue their lives in good health.

The improvement described above should not be interpreted as a permanent cure. Even if your intestines have completely healed as a result of a gluten-free diet, stopping the diet and consuming gluten again can reactivate the immune response and restart the damaging process.

What should you pay attention to on a gluten-free diet?

Starting a gluten-free lifestyle may initially seem like simply giving up bread and pasta, but in reality it involves developing an entirely new approach to food preparation and learning how to read food labels carefully. To protect your health without imposing unnecessary restrictions, there are several important points to consider:

Gluten is not found only in baked goods. It may also appear as a thickening or processing ingredient in products such as ready-made soups, salad dressings, processed meats, and certain seasoning mixes. These products should be assessed carefully and avoided when they contain gluten.
A packaged product being labeled gluten-free does not automatically mean that it is nutritionally ideal. Many processed gluten-free foods may contain less fiber and more fat or sugar to improve taste and texture. For this reason, the foundation of your diet should consist mainly of naturally gluten-free foods such as fresh vegetables, fruits, meat, fish, eggs, and legumes.
Even when a food itself is completely gluten-free, preparing it on the same cutting board as gluten-containing bread, placing it in the same toaster, or frying it in the same oil as gluten-containing foods may be enough to cause gluten cross-contact. When eating outside the home, asking not only “Is this gluten-free?” but also “How is it prepared, and do you use separate equipment?” is a safer approach.
Oats are naturally gluten-free. However, because they may come into contact with wheat during harvesting, transportation, or processing, they carry a significant risk of cross-contact. Therefore, only oats specifically labeled gluten-free should be preferred, and the appropriate timing for adding oats to the diet should be discussed with your doctor.

Aktif International Hospital gastroenterology doctors’ warnings and recommendations

Although a rapid reduction in symptoms during celiac disease treatment may make you feel that you have fully recovered, complete intestinal healing and normalization of blood values may take much longer. For this reason, treatment success should not be evaluated solely according to how you feel. Regular medical follow-up, including assessment of antibody levels and relevant vitamin and mineral levels, is also important.

If your symptoms continue despite following a strict gluten-free diet, do not unnecessarily restrict yourself further by eliminating foods such as dairy products or legumes on your own. Hidden gluten exposure or another intestinal condition may be responsible, so professional evaluation is recommended.

Finally, considering the genetic component of celiac disease, first-degree relatives may also need to discuss screening with a healthcare professional even if they have no symptoms.

Can breaking a gluten-free diet once damage the intestines?

Medical evidence indicates that even a single exposure to gluten can activate the immune system within hours and trigger a reaction in the intestinal lining. However, this does not mean that one accidental exposure causes the same degree of damage or permanent harm in every patient. The extent of the reaction may vary depending on the amount of gluten consumed and individual sensitivity.

One of the most misleading situations for patients is silent exposure. Some people develop severe abdominal pain, bloating, and diarrhea soon after accidentally consuming gluten, whereas others may notice no symptoms at all. However, the absence of symptoms does not mean that no intestinal reaction has occurred. For this reason, deliberately making occasional exceptions is not considered appropriate in the treatment of celiac disease.

Accidental gluten exposure can, of course, occur without the person realizing it. In such situations, imposing excessive restrictions on yourself, such as fasting in an attempt to compensate for the exposure, is unnecessary. A single accidental exposure does not mean that your entire treatment has failed. The important steps are to identify the likely source of the exposure and return to your usual safe gluten-free eating routine as soon as possible.

Can untreated celiac disease prevent pregnancy?

One concern among people with celiac disease who are planning to become pregnant is the possibility of infertility. Celiac disease does not definitively prevent pregnancy and is not, by itself, a direct cause of infertility.

However, when the disease is not adequately controlled, it may indirectly affect reproductive health and make conception more difficult.

When intestinal damage continues, the absorption of nutrients that are particularly important for pregnancy, such as iron, folic acid, and vitamin B12, may be impaired. Changes related to immune activity may also contribute to menstrual irregularities. Medical data suggest that previously undiagnosed and untreated celiac disease may sometimes be found in the background of otherwise unexplained difficulty becoming pregnant.

If you are planning a pregnancy, one of the most important steps is to follow the nutritional program recommended for you consistently. Your vitamin and mineral levels should also be monitored by the appropriate healthcare professional. Finally, if you experience difficulty becoming pregnant, celiac disease should not automatically be assumed to be the only cause. Evaluation by an obstetrics and gynecology specialist is also important.