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Celiac Disease: Causes, Diagnosis and Treatment

May 12, 2017

Celiac disease is an autoimmune disease that occurs in some people when they ingest the proteins found in wheat, barley and rye – collectively known as gluten. Autoimmune diseases occur when the body produces antibodies that attack the body’s own tissues. Celiac disease manifests in a variety of different ways that affect many systems in the body.

Causes of Celiac Disease

To develop it, a person needs to have genes known to be associated with the disease in addition to ingesting gluten. While having the correct genes and being exposed to gluten are essential elements for developing celiac disease, it is also possible that, in some cases, an additional “trigger” factor is needed to cause the person to become intolerant to gluten. For example, an event or health situation that puts a lot of stress on the body, such as a pregnancy, infection or surgery, could be a trigger factor. The combination of the genes, gluten and possibly an additional trigger factor causes the person’s immune system to react in an abnormal way that leads to damage to the intestinal tract.

Many people may have heard of the gastrointestinal symptoms, including weight loss, nausea, vomiting and diarrhea, but there can be less-obvious symptoms as well, such as:

  • Steatorrhea (fatty stools)
  • Pain, bloating, flatulence
  • Constipation
  • Abdominal distension
  • Transaminitis (elevated liver enzymes)

For people with celiac disease, this autoimmune attack is not limited to the tissues in the intestines. Sometimes, non-gastrointestinal symptoms may manifest also or instead. These symptoms include:

  • Dermatitis herpetiformis (skin rash)
  • Dental enamel hypoplasia (discoloration of tooth enamel)
  • Aphthous ulcers (mouth ulcers)
  • Short stature
  • Arthritis
  • Rickets
  • Fractures
  • Osteopenia
  • Osteoporosis
  • Anemia (iron and folate/B12 deficencies)
  • Leukopenia (low white cell count)
  • Bruising/bleeding
  • Vitamin K deficiency
  • Platelet dysfunction
  • Behavioral changes
  • Dementia
  • Ataxia
  • Peripheral neuropathy
  • Pubertal delay
  • Infertility
  • Miscarriages
  • Delivery of low birth weight babies

Initially, some people may have very mild or even no symptoms despite having the characteristic damage to their small intestinal lining.

Importance of Diagnosis

There are an estimated 2 to 3 million people with celiac disease in the United States. The majority – 80 percent – are still undiagnosed.

Proper diagnosis is essential to health and well-being. If you suspect that your child might have celiac disease, talk with your doctor. A simple blood test to look at tissue transglutaminase levels is a helpful and cost effective way to determine whether or not additional testing for celiac disease is warranted.

Testing for Celiac Disease

Definitive testing requires a biopsy of the small intestine. It is very important to be certain you have celiac disease before changing your diet. If the diagnosis is confirmed, it means you will need to follow a strict gluten-free diet for life.

Experimenting with a gluten free diet before diagnosis when celiac disease is suspected makes diagnosis more difficult and may cause undue hardship. While great strides have been made to make the gluten-free diet more accessible, the strict gluten-free diet required by people with celiac disease is no easy task. It requires constant vigilance, and it creates financial strain for some families. The cost of a gluten-free equivalent product is often 33% higher than that of the “typical” product.


Celiac disease can be treated simply by removing gluten from the diet. Following a gluten-free diet will result in symptom resolution and complete healing of the intestinal damage in the majority of cases. Additionally, the gluten-free diet is often deficient in some key nutrients, so working with an experienced dietician is important for maintaining good health.

For more information about the Celiac Disease Center at Nationwide Children’s, click here or listen to our PediaCast.

Featured Expert

Nationwide Children's Hospital Medical Professional
Ivor Hill, MD
Celiac Disease Center

Ivor Hill, MD, MB, ChB, is director of the Celiac Disease Center, one of the signature programs within the Section of Pediatric Gastroenterology at Nationwide Children’s Hospital. He is also professor of Clinical Pediatrics at the Ohio State University College of Medicine.

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700 Children’s® features the most current pediatric health care information and research from our pediatric experts – physicians and specialists who have seen it all. Many of them are parents and bring a special understanding to what our patients and families experience. If you have a child – or care for a child – 700 Children’s was created especially for you.