Causes of Celiac Disease: Risk Factors and Diagnosis

Celiac disease is an autoimmune condition triggered by gluten, a protein found in wheat, barley, and rye. If left untreated, it quietly disrupts your body and can lead to long-term health challenges. Over time, this damages the intestinal lining, hindering nutrient absorption and causing various complications.

Celiac disease occurs when your immune system mistakenly attacks the small intestine in response to gluten consumption. While genetics play a role, other risk factors, like family history or environmental triggers, can increase your likelihood of developing this condition.

Even without obvious symptoms, celiac disease can silently harm your health, contributing to issues that affect your immunity and wellness. Understanding its causes and identifying risk factors by reading more is crucial to determining whether you are at risk. If you suspect you may be at risk, consult a healthcare provider for accurate testing and guidance.

Causes and Risk Factors

Have you ever wondered why some people develop celiac disease while others don’t, even when exposed to gluten? Learning about the causes and risk factors helps explain why some people are more prone to developing it. While the exact reasons are complex, several factors affect the disease’s development.

Genetics

Genetics strongly influences celiac disease, particularly the HLA-DQ2 and HLA-DQ8 genes. Having a close family member, such as a parent or sibling, with the condition increases the likelihood of developing one due to the inheritance of these genes.

Although HLA-DQ2 or HLA-DQ8 genes are present in a large portion of the population, only a small percentage of those who carry them will develop celiac disease. The presence of these genes alone is not sufficient to cause the condition, but a genetic link confirms celiac disease.

This indicates that other factors, such as environmental triggers (like gluten exposure), gut health, and immune system interactions, contribute to the onset of celiac disease in genetically predisposed individuals.

Gluten Exposure

Celiac disease is triggered by gluten consumption in at-risk individuals. Gluten, a protein found in foods like bread, pasta, cereals, baked goods, and processed snacks, contains gliadin. During digestion, gluten breaks down into smaller protein fragments (peptides), but gliadin is particularly difficult to digest.

Undigested fragments cross the intestinal barrier and trigger the immune system in people with this disease. The immune system mistakenly attacks the intestine, leading to persistent inflammation and damage to the villi in the small intestine—tiny structures that aid in nutrient absorption.

Gradually, this damage disrupts the body’s ability to absorb essential nutrients, causing symptoms indicative of celiac disease. It’s essential to understand that gluten sensitivity and celiac disease are not the same condition. Gluten sensitivity can cause discomfort and symptoms but does not involve the autoimmune response or intestinal damage seen in celiac disease.

Autoimmune Conditions

If you have an autoimmune condition such as rheumatoid arthritis, type 1 diabetes, or thyroid disease, your risk of developing celiac disease may be higher. Autoimmune diseases share common genetic factors that lead the immune system to wrongly target the body’s tissues, a process referred to as autoimmunity.

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In celiac disease, consuming gluten triggers the immune system to produce harmful autoantibodies, which attack the small intestine and cause inflammation and damage. Similarly, autoantibodies play a role in other autoimmune conditions by targeting different organs or systems instead of actual body threats.

This overlap in immune system activity raises the chance of developing more than one autoimmune condition, which is why having one autoimmune disease can increase the risk of others, including celiac disease.

Gastrointestinal Infections

Infections caused by rotavirus, adenovirus, Campylobacter jejuni, or repeated episodes of gastroenteritis may trigger celiac disease in high-risk individuals. These infections can weaken the intestinal barrier and cause inflammation, making it easier for gluten peptides to penetrate and trigger an immune response.

Recent studies suggest that disruptions in the gut microbiome—the community of microorganisms in the digestive system—can increase inflammation and impair immune function. These changes may make the intestines more reactive to gluten, contributing to the development of celiac disease in individuals.

Early Life Factors

The timing of gluten introduction during infancy is considered a potential risk factor for developing celiac disease. The introduction of gluten-containing foods, such as wheat-based purees, infant cereals, or soft bread, between 4 and 6 months of age during breastfeeding may influence the development of celiac disease.

Breast milk supports immunity development, including protective antibodies, which can reduce the likelihood of an adverse immune response to gluten. However, introducing gluten too early (before 4 months) may overwhelm an immature immune system, increasing the risk of triggering celiac disease.

Conversely, introducing it too late (after 7 months) may delay the development of gluten tolerance. Although these factors are associated with risk, further research is needed to establish the optimal timing and quantity of gluten introduction to minimize the likelihood of celiac disease.

Gender Differences

Celiac disease appears more frequently in females than males, with women often experiencing more noticeable symptoms like anemia, fatigue, or digestive issues. Hormonal changes during puberty, pregnancy, or menopause can influence immune system activity, potentially adding to the nutrient deficiencies or triggering symptom flare-ups.

In contrast, men often exhibit milder symptoms, such as unexplained weight loss or nutrient deficiencies, which are frequently mistaken for stress, aging, or malnutrition. These subtle signs, influenced by differences in immune system activity, can delay diagnosis and treatment, increasing the risk of long-term complications.

Environmental Factors

Environmental factors, such as family diet, pregnancy, surgery, or severe illnesses, can trigger celiac disease in individuals with genetic links to the disease. These events may influence changes in immune function or stress the body, disrupting the integrity of the gut lining and impairing its ability to function properly.

For example, prolonged emotional or physical stress can impact the connection between the brain and the digestive system. Stress releases hormones and chemicals that weaken the gut barrier, allowing gluten peptides to pass through the intestinal lining easily.

Confirming Celiac Disease

Diagnosing celiac disease requires a thorough approach, as its symptoms can overlap with other medical conditions. Healthcare professionals employ a variety of approaches to confirm the diagnosis, each targeting specific aspects of the disease. An accurate diagnosis ensures safe and effective treatment, prevents complications, and promotes improved health.

Medical History

Doctors take a detailed medical history to evaluate your risk of celiac disease. They may ask about the age at which you started eating gluten, the amount you typically consume, and whether you have a family history of celiac disease or other autoimmune conditions.

Doctors may also ask about any specific symptom triggers, such as consuming gluten-containing foods or experiencing recent stomach infections, to better understand the onset and progression of your symptoms.

Additionally, doctors will ask about the duration and nature of symptoms or unexplained weight loss. This thorough assessment helps identify patterns suggesting celiac disease and guides further diagnostic testing.

Physical Examination

During a physical examination, doctors assess for signs that support the diagnosis. This can include evaluating for symptoms of malnutrition, such as weight loss, pallor, or a bloated abdomen. They may also check for abdominal tenderness, which could indicate inflammation in the digestive tract.

Doctors will also look for skin changes, such as rashes or blisters, to determine if they are linked to celiac disease. Additionally, they may inspect for other signs of nutrient deficiencies, like brittle nails, hair thinning, or neurological issues, such as tingling in the extremities.

In some cases, a physical examination may not show obvious abnormalities, as some individuals with this condition are either asymptomatic or have mild symptoms. However, when present, these observations offer valuable clues that can support the diagnosis and help identify potential complications related to the disease.

Blood Tests

Serological tests are often the first step in diagnosing celiac disease. These blood tests check for specific antibodies and indicate an immune response to gluten. Elevated antibody levels suggest gluten sensitivity, but false negatives can occur, particularly in individuals with IgA deficiency.

In such cases, IgG-based tests can improve diagnostic accuracy. Consuming gluten before testing is essential, as a gluten-free diet lowers antibody levels and may lead to inaccurate results.

Additional blood tests include a CBC (Complete Blood Count) for anemia, liver function tests for abnormalities, and measurements of essential nutrients to identify deficiencies from malabsorption. These tests help assess celiac disease’s effects and guide treatment strategies.

Genetic Testing

Genetic testing helps identify whether you carry the HLA-DQ2 or HLA-DQ8 genes commonly found in individuals with celiac disease. If you test positive for these genes, your risk of developing the condition is higher, though this test alone cannot confirm a diagnosis.

Genetic testing is useful when blood tests and biopsies are inconclusive, need support, or if you have a family history of celiac disease to understand your risk level. Notably, the test is often used to rule out celiac disease, as the absence of these genes makes the condition highly unlikely.

Small Intestine Tissue Sampling

A small intestine biopsy, performed during an upper endoscopy, is the definitive test for diagnosing celiac disease. This procedure allows doctors to visually check the small intestine, identify damage such as inflammation or abnormalities, and collect tissue samples to confirm damaged or flat villi—a hallmark of gluten-induced damage in celiac disease.

However, the test has limitations, including the risk of false-negative results if the patient has begun a gluten-free diet before the procedure, as intestinal healing may mask the damage. Additionally, the damage caused by celiac disease can be patchy, meaning the biopsy might miss affected areas.

While changes in villi are strongly linked to celiac disease, they can also occur in other conditions, making additional tests necessary for confirmation. Although more invasive than blood tests, this procedure is often necessary to confirm a diagnosis and remains a critical tool when combined with other methods for accuracy and effective management.