Celiac Disease

What is celiac disease?

From: MedlinePlus, National Library of Medicine

Celiac disease is a chronic (long-term) digestive and immune disorder that damages your small intestine. The damage may prevent your body from absorbing vitamins, minerals, and other nutrients from the food you eat. This can lead to malnutrition and other serious health problems.

Celiac disease is triggered by eating foods that contain gluten. Gluten is a protein found in wheat, barley, rye, and other grains. It may also be in other products you swallow like vitamins, supplements, toothpaste, mouthwash, and lip balm. Gluten in hair and skin products aren't absorbed through the skin. But they could cause a reaction if you accidentally swallow some. Also, some people with wheat allergies may have a reaction to certain wheat proteins in cosmetics.

Wheat allergy, a type of food allergy, is different from celiac disease. With both, your immune system is reacting to wheat. But with wheat allergy, you can have some different symptoms, such as itchy eyes or trouble breathing. And a wheat allergy does not cause long-term damage to the small intestine.

Celiac disease is also different from gluten sensitivity. Both involve problems with gluten and can cause some of the same symptoms, such as abdominal (belly) pain and fatigue. But gluten sensitivity does not damage the small intestine.

What causes celiac disease?

From: MedlinePlus, National Library of Medicine

The exact cause of celiac disease is not known. Research suggests that celiac disease only happens in people who have certain genes and eat food that contains gluten. Researchers are studying other factors that may play a role in causing the disease.

Who is more likely to develop celiac disease?

From: MedlinePlus, National Library of Medicine

Celiac disease is more common if you:

• Have a family member who has the disease
• Have Down syndrome, Turner syndrome, or Williams syndrome
• Are female

What are the symptoms of celiac disease?

From: MedlinePlus, National Library of Medicine

The symptoms of celiac disease can be different from person to person. Sometimes the symptoms may come and go or may be mistaken for other conditions. Some people may not notice any symptoms.

Some of the possible symptoms affect your digestive system. Digestive symptoms are more common in children than in adults. The digestive symptoms include:

Some people with celiac disease have symptoms that affect other parts of the body, such as:

• Bloating (feeling fullness or swelling in your belly)
• Chronic (long-term) diarrhea or greasy, bulky, unusually bad-smelling stool (poop)
• Constipation
• Gas
• Lactose intolerance because of damage to the small intestine
• Nausea and vomiting
• Pain in the abdomen (belly)
• Weight loss in adults, or not enough weight gain in children
• Fatigue
• Depression and anxiety
• Irritability (in children)
• Dermatitis herpetiformis, an itchy rash with blisters (mainly in adults)
• Bone or joint pain
• Symptoms involving the mouth, such as canker sores or dry mouth

What other problems can celiac disease cause?

From: MedlinePlus, National Library of Medicine

Over time, celiac disease can cause other health problems, especially if it is not treated. These problems can include:

• Malnutrition
• Anemia, especially iron-deficiency anemia
• Bone loss
• Nervous system problems such as headaches, balance problems, or peripheral neuropathy
• Reproductive problems, such as missed menstrual periods and miscarriages in women and infertility in men and women

How is celiac disease diagnosed?

From: MedlinePlus, National Library of Medicine

If you have symptoms of celiac disease, your health care provider will look for signs that you might have celiac disease. To do this, your provider will get your medical and family history and do a physical exam.

If your provider thinks that you could have celiac disease, you will have some tests. Providers most often use blood tests and biopsies of the small intestine to diagnose celiac disease. The biopsy would be done during an upper gastrointestinal (GI) endoscopy. For this procedure, your provider uses an endoscope (a flexible tube with a camera) to see the lining of your esophagus, stomach, and small intestine. It also allows your provider to take a sample of tissue for a biopsy.

What are the treatments for celiac disease?

From: MedlinePlus, National Library of Medicine

The treatment for celiac disease is following a gluten-free diet for the rest of your life. Sticking with a gluten-free diet will treat or prevent many of the symptoms and other health problems caused by celiac disease. In most cases, it can also heal damage in the small intestine and prevent more damage.

Your provider may refer you to a registered dietician (a nutrition expert) who can help you learn how to eat a healthy diet without gluten. You will also need to avoid all hidden sources of gluten, such as certain supplements, cosmetics, toothpaste, etc. Reading product labels can sometimes help you avoid gluten. If a label doesn't tell you what is in a product, check with the company that makes the product for an ingredients list. Don't just assume that a product is gluten-free if it doesn't mention it.

Genetic causes described in the linked summary

From: MedlinePlus Genetics

The risk of developing celiac disease is increased by certain variants of the HLA-DQA1 and HLA-DQB1 genes. These genes provide instructions for making proteins that play a critical role in the immune system. The HLA-DQA1 and HLA-DQB1 genes belong to a family of genes called the human leukocyte antigen (HLA) complex. The HLA complex helps the immune system distinguish the body's own proteins from proteins made by foreign invaders such as viruses and bacteria.

The proteins produced from the HLA-DQA1 and HLA-DQB1 genes attach (bind) to each other to form a functional protein complex called an antigen-binding DQαβ heterodimer. This complex, which is present on the surface of certain immune system cells, attaches to protein fragments (peptides) outside the cell. If the immune system recognizes the peptides as foreign (such as viral or bacterial peptides), it triggers a response to attack the invading viruses or bacteria.

Celiac disease is associated with an inappropriate immune response to a segment of the gluten protein called gliadin. This inappropriate activation of the immune system causes inflammation that damages the body's organs and tissues and leads to the signs and symptoms of celiac disease.

Almost all people with celiac disease have specific variants of the HLA-DQA1 and HLA-DQB1 genes, which seem to increase the risk of an inappropriate immune response to gliadin. However, these variants are also found in 30 percent of the general population, and only 3 percent of individuals with the gene variants develop celiac disease.

It appears likely that other contributors, such as environmental factors and changes in other genes, also influence the development of this complex disorder.

Inheritance described in the linked summary

From: MedlinePlus Genetics

Celiac disease tends to cluster in families. Parents, siblings, or children (first-degree relatives) of people with celiac disease have between a 4 and 15 percent chance of developing the disorder. However, the inheritance pattern is unknown.

Which doctor should you see?

The suggested department for discussing Celiac Disease is Gastroenterology, with a gastroenterologist as the relevant type of clinician. General physician / Family Medicine; paediatrician for children. Referral depends on symptoms.

Additional services that may be relevant, depending on the findings, include: Clinical Genetics.

This is an editorial referral starting point. The appropriate clinic depends on the person’s age, symptoms, previous diagnosis and local services. The first clinician can decide whether another specialty or a team is needed; a department label does not confirm the diagnosis.

How to prepare for an assessment

Bring a short timeline of the main symptoms: when they first appeared, whether they are constant or episodic, what seems to change them, and how they affect daily activities. Include previous reports, discharge summaries, current medicines and supplements, allergies, and any relevant family history. A dated record is more useful than trying to match every feature in an online article.

Ask the clinician what is already established and what remains uncertain. If a test is suggested, ask what question it answers, what its limitations are and how the result would change the next step. The information here is not an instruction to arrange every possible test. In children, bring growth, developmental and school information if it is relevant to the concern.

• Which digestive symptoms or nutritional changes matter most?
• What question would an endoscopy, scan or laboratory test answer if one is proposed?
• How should persistent pain, bleeding or difficulty eating be followed up?

Treatment discussions and follow-up

Where the source describes treatments, these are an overview of possible care, not a prescription for an individual. Ask which option applies to the confirmed diagnosis, what benefit is expected, what adverse effects to watch for and how progress will be assessed. Availability, approvals and local practice can differ from the country described in the source.

Before leaving the appointment, clarify the next review date, who will communicate results, and whom to contact if the situation changes. Discuss difficulties with sleep, work, school, mobility, eating or emotional wellbeing when these are relevant. Practical support may require coordination between the treating clinician and other services.

The collected references do not establish a complete prevention or long-term outlook section for this entry. Missing information should not be interpreted as proof that prevention is impossible or that a particular outcome is inevitable. Ask what is known for the exact subtype, stage and personal circumstances, and which uncertainties remain.

When to seek emergency help

Severe breathing difficulty, collapse, new stroke-like symptoms, a seizure that is prolonged or repeated without recovery, uncontrolled major bleeding, or an immediate risk of self-harm require emergency help. In India, call 112 or reach the nearest emergency department. This is a general, non-exhaustive warning list; it is not a condition-specific triage tool.