What is Celiac Disease? Understanding Symptoms, Causes, and Management

Celiac disease is a serious autoimmune disorder triggered by the consumption of gluten, a protein primarily found in wheat, barley, and rye. For individuals with celiac disease, ingesting gluten sets off an immune response in the small intestine. This reaction, over time, damages the lining of the small intestine and hinders the absorption of essential nutrients, leading to a condition known as malabsorption.

This damage to the intestinal lining can manifest in a range of symptoms, from digestive issues like diarrhea, bloating, and weight loss to fatigue and anemia. If left unmanaged, celiac disease can lead to significant health complications. In children, malabsorption can impede growth and development in addition to causing gastrointestinal distress.

While there is currently no cure for celiac disease, the good news is that for most people, strict adherence to a gluten-free diet can effectively manage symptoms and allow the intestines to heal.

Symptoms of Celiac Disease: Recognizing the Signs

The symptoms of celiac disease are incredibly diverse and can differ significantly between individuals, and between children and adults. It’s important to note that not everyone experiences the same symptoms, which can sometimes make diagnosis challenging.

Digestive Symptoms in Adults

Adults with celiac disease frequently report digestive symptoms. These can include:

Diarrhea: Persistent diarrhea is a common complaint due to malabsorption and intestinal irritation.
Fatigue: Unexplained and persistent tiredness is often linked to nutrient deficiencies.
Weight Loss: Difficulty absorbing nutrients can lead to unintentional weight loss, despite normal eating habits.
Bloating and Gas: Increased gas production and a bloated feeling are common digestive discomforts.
Abdominal Pain: Cramping or general pain in the abdominal area can occur.
Nausea and Vomiting: Some adults experience nausea and may vomit, although this is more common in children.
Constipation: While diarrhea is more typical, some individuals experience constipation.

Beyond Digestion: Non-Digestive Symptoms in Adults

Interestingly, over half of adults with celiac disease experience symptoms that are not directly related to the digestive system. These can include:

Anemia: Iron deficiency anemia is frequent due to reduced iron absorption in the damaged small intestine.
Bone Density Loss: Osteoporosis (decreased bone density) or osteomalacia (bone softening) can develop due to calcium and vitamin D malabsorption.
Dermatitis Herpetiformis: This itchy, blistering skin rash is a specific manifestation of celiac disease.
Mouth Ulcers: Recurring sores inside the mouth can be a symptom.
Headaches and Fatigue: These non-specific symptoms can be linked to the systemic effects of celiac disease.
Nervous System Issues: Nerve damage can manifest as numbness or tingling in the extremities (peripheral neuropathy), balance problems, and even cognitive impairment.
Joint Pain: Unexplained joint pain can occur.
Hyposplenism: Reduced spleen function can increase susceptibility to infections.
Elevated Liver Enzymes: Liver abnormalities can sometimes be detected through blood tests.

Symptoms in Children: Focus on Growth and Development

Children with celiac disease are more prone to digestive issues than adults. Common digestive symptoms in children include:

Nausea and Vomiting: Frequent episodes of feeling sick to the stomach and throwing up.
Chronic Diarrhea: Persistent and ongoing diarrhea.
Swollen Belly (Abdominal Distension): A noticeably protruding abdomen.
Constipation: Difficulty passing stools.
Gas (Flatulence): Excessive gas.
Pale, Foul-Smelling Stools: Stools that are light in color and have an unusually unpleasant odor.

Malabsorption in children can significantly impact their growth and development, leading to:

Failure to Thrive: Infants may not gain weight or grow at the expected rate.
Tooth Enamel Damage: Problems with the developing enamel of teeth.
Weight Loss: Unexplained loss of weight.
Anemia: Iron deficiency anemia.
Irritability: Increased fussiness and crankiness.
Short Stature: Being significantly shorter than expected for their age.
Delayed Puberty: Puberty occurring later than the typical age range.
Neurological Symptoms: These can include ADHD-like symptoms, learning difficulties, headaches, poor muscle coordination, and seizures.

Dermatitis Herpetiformis: The Skin Manifestation of Celiac Disease

Dermatitis herpetiformis is a distinct, intensely itchy, and blistering skin condition directly linked to gluten intolerance and celiac disease. The rash typically appears on the elbows, knees, torso, scalp, or buttocks. While it’s a skin manifestation, it reflects the same underlying intestinal damage seen in celiac disease, although digestive symptoms may not always be present.

Treatment for dermatitis herpetiformis usually involves a gluten-free diet, medication, or a combination of both to manage the skin rash.

What Causes Celiac Disease? Unraveling the Causes and Risk Factors

The exact cause of celiac disease is complex and not fully understood. It’s believed to be a combination of genetic predisposition, gluten consumption, and other environmental factors.

The Role of Genes, Gluten, and Other Factors

Genetics: Celiac disease has a strong hereditary component. Individuals with certain genes are at a significantly higher risk of developing the condition. However, having these genes doesn’t guarantee the development of celiac disease; it simply increases susceptibility.
Gluten: Gluten is the trigger for the autoimmune response in celiac disease. Without gluten in the diet, celiac disease will not develop.
Environmental Factors: Factors beyond genes and gluten are thought to play a role. These may include infant-feeding practices, gastrointestinal infections, and the balance of gut bacteria. However, the precise influence of these factors is still being researched. In some cases, celiac disease can become active or more pronounced following events like surgery, pregnancy, childbirth, viral infections, or periods of severe emotional stress.

Risk Factors for Celiac Disease: Who is More Likely to Develop It?

Certain factors increase the likelihood of developing celiac disease:

Family History: Having a first-degree relative (parent, sibling, or child) with celiac disease or dermatitis herpetiformis significantly increases your risk.
Type 1 Diabetes: Individuals with type 1 diabetes have a higher prevalence of celiac disease.
Genetic Syndromes: Conditions like Down syndrome, Williams syndrome, and Turner syndrome are associated with an increased risk of celiac disease.
Autoimmune Thyroid Disease: Having an autoimmune thyroid condition elevates the risk.
Microscopic Colitis: This inflammatory bowel disease is linked to celiac disease.
Addison’s Disease: This adrenal gland disorder is another associated risk factor.

Complications of Untreated Celiac Disease: Why Early Management Matters

If celiac disease is left untreated, the ongoing damage to the small intestine and malabsorption can lead to a range of serious complications:

Malnutrition: The inability to absorb nutrients properly leads to malnutrition, potentially causing anemia and weight loss. In children, malnutrition can severely hinder growth and result in short stature.
Bone Weakening: Malabsorption of calcium and vitamin D can weaken bones. In children, this can lead to osteomalacia (rickets), while in adults, it can cause osteopenia or osteoporosis, increasing the risk of fractures.
Infertility and Miscarriage: Nutrient deficiencies, particularly calcium and vitamin D malabsorption, can contribute to reproductive problems and increase the risk of miscarriage.
Lactose Intolerance: Damage to the small intestine can temporarily cause lactose intolerance, leading to discomfort after consuming dairy products. In some cases, this may improve as the intestine heals on a gluten-free diet.
Cancer: Long-term, untreated celiac disease increases the risk of developing certain cancers, including intestinal lymphoma and small bowel cancer.
Nervous System Conditions: Neurological issues like seizures and peripheral neuropathy can develop in some individuals with celiac disease.

Nonresponsive and Refractory Celiac Disease: When a Gluten-Free Diet Isn’t Enough

For most people, a strict gluten-free diet effectively manages celiac disease. However, some individuals experience nonresponsive celiac disease, where symptoms persist despite what they believe is a gluten-free diet. This is often due to unintentional gluten contamination in their diet. Consulting a registered dietitian specializing in celiac disease can be crucial to identify hidden sources of gluten and ensure dietary adherence.

In rare cases, individuals may have refractory celiac disease, where the intestinal damage continues even with a confirmed strict gluten-free diet for 6 months to a year. If symptoms persist despite dietary adherence, further medical evaluation is necessary to rule out other underlying conditions or complications.

When to See a Doctor: Seeking Medical Advice

It’s important to consult a healthcare professional if you experience persistent digestive discomfort or diarrhea lasting more than two weeks. For children, seek medical advice if they exhibit symptoms such as:

Pale skin
Irritability
Failure to grow at the expected rate
A swollen abdomen
Foul-smelling, bulky stools

Crucially, consult your healthcare team before starting a gluten-free diet. Eliminating or reducing gluten intake before testing for celiac disease can alter test results and make diagnosis difficult.

Celiac disease often runs in families. If you have a family member with celiac disease, or if you or a family member has risk factors like type 1 diabetes, discuss with your doctor whether celiac disease testing is recommended.

For expert care and diagnosis, consider seeking specialized medical advice.

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By Mayo Clinic Staff

Celiac disease care at Mayo Clinic

Diagnosis & treatment

Sept. 12, 2023

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