What is Celiac Disease?

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What is Celiac Disease?

Celiac Disease (CD) is an autoimmune disorder, triggered by the ingestion of gluten, a collection of proteins called gliadins and glutenins, commonly found in wheat, barley, rye, and spelt. With autoimmune disease, the body mistakenly attacks itself, and in the case of CD, the immune system damages or destroys the villi. The villi are the components of the small intestine that enable us to absorb nutrients from foods that we need to survive.

The incidence of CD is 1.5 to 2 times greater in women then men and more frequently occurs in families, those with type 1 diabetes, Hashimoto's thyroiditis and other autoimmune diseases.

For the estimated 1 in 133 people (roughly 3 million people in the U.S.) who have CD, the immune system basically treats gluten as a foreign invader (an antigen), and inflames the villi of the small intestine in an effort to protect the body from this perceived “invader.” The inflammation is caused by a family of white blood cells that are designed to protect the body from all types of antigens. White blood cells produce antibodies, also known as immunoglobulin’s (Ig) that target specific invaders.

The immune system response in CD involves the production of antibodies directed against an enzyme normally present in the intestines called tissue transglutaminase (tTG). It is believed that tTG converts gluten into a form that activates specific immunoglobulins. In CD, the body produces two types of antibodies that attack tTG: immunoglobulin A (IgA) and immunoglobulin G (IgG), and these antibodies are commonly tested to diagnose CD. (See Testing to Diagnose Celiac Disease).

Also involved in the immune response to CD are two genes: HLA-DQ2 and HLA-DQ8 (the HLA stands for Human Leukocyte Antigen). The HLA-DQ2 gene have been identified as being present in 95% of patients with CD, while HLA-DQ8 is found in 5% of patients with CD.  Tests that detect these two genes can suggest celiac disease, but they cannot confirm a diagnosis, since 35 to 40 percent of the overall American population carries these genes, but only a small portion of people with these genes will ever get celiac disease.

There are three categories or classifications of CD:

Symptomatic: means there are symptoms present. The most common are intestinal problems like diarrhea, iron deficiency, anemia, peripheral neuropathy (nerve damage causing pain or numbness), and other neurological disorders like multiple sclerosis. Other common symptoms include gas, acid reflux or GERD, abdominal pain and bloating, weight gain or loss, fatigue, depression, infertility, tooth and bone defects and malabsorption.

Asymptomatic or Silent: In these cases some patients are truly asymptomatic, however they still are not absorbing nutrients. people have positive autoantibodies and intestinal damage, but no clinical symptoms.  It is estimated that one in 100 Americans are affected by CD though only 1 in 8 are estimated to be aware of their condition as these symptoms are often silent.

Potential or Latent: These individuals are asymptomatic, but later may develop symptoms if certain markers are present, including insulin resistance, vitamin D deficiency, chronic inflammation, infections and viruses. When a person with CD eats gluten, the protein interferes with the absorption of nutrients from food by damaging a part of the small intestine called villi, making it difficult for the body to absorb nutrients into the bloodstream. This leads to malnourishment and a multitude of other problems including some cancers, osteoporosis, infertility, diabetes and the onset of other autoimmune diseases.  After exposure to gluten, CD may take weeks or months or years before the autoimmune reaction cause symptoms.

While CD is a multi-system disease that can present itself in a number of different ways, the gastrointestinal tract is most often the site of injury. When a person with CD stops eating gluten, the villi eventually grow back to a healthy state. There are NO pharmaceutical cures for CD at this time.  The only effective intervention is a gluten-free diet.

CD is not just an gastrointestinal issue, it’s a multi-system, multi-symptom disease.  Because it’s multi-system, it can effect the whole body.  Neurologically, it can result in migranes, epilepsy (a higher incidence of seizures), nerve pain, numbness, thyroid disease, osteoporosis, infertility and higher incidence of type 1 diabetes.

Because it’s a multi-symptom disease, CD  can often be misdiagnosed with other conditions like: heartburn, reflux, ulcers, irritable bowel syndrome, chronic fatigue, and many other disease states. And, it can occur at any time of life, any age.

Common symptoms include, but are not limited to:

  • abdominal pain
  • anemia*
  • autoimmune disease
  • bloating*
  • constipation
  • delayed growth
  • depression
  • dermatitis herpetiformis
  • diarrhea
  • enamel defects on teeth
  • fatigue
  • gas
  • irritability
  • infertility
  • joint/bone pain
  • malnutrition
  • muscle cramps
  • sores in mouth
  • migraines
  • nausea
  • numbness in legs
  • osteoporosis*
  • gastro-esophageal reflux
  • vomiting
  • weight loss or gain and more

Research has demonstrated that only a third of adult patients diagnosed with CD experience diarrhea. Non-gastrointestinal symptoms include: anemia that doesn't respond to iron therapy, easy bruising, Hashimoto's disease (autoimmune thyroid disorder), joint and bone pain, muscle cramping, seizures and more.

People of European caucasian descent seem to have a higher incidence of gluten sensitivity.

* In a recent study in Italy, researchers are now pointing to these 3 symptoms (anemia, bloating and osteoporosis) as more common than diarrhea and weight loss (previously thought the more classical symptoms).

Are the symptoms the same in children?

These are the symptoms that are more commonly seen in children:

  • Abdominal bloating and pain
  • Chronic diarrhea/constipation
  • Delayed onset of puberty
  • Failure to thrive, growth issues (short stature or delayed growth)
  • Fatigue
  • Inability to concentrate
  • Irritability
  • Nosebleeds
  • Weak bones or bone pain

If left undiagnosed, CD can effect a child's mood, development and growth.

Variety of Symptoms and Conditions

One of the reasons that celiac disease seems to be under diagnosed is because many of the symptoms are similar to other commonly diagnosed conditions, or the symptoms may be too subtle to notice. Onset may be so gradual that a person may not realize the symptom is abnormal. 

The Celiac Disease Foundation has a very thorough checklist that can be used as a tool to help you and your physician determine if you or your child should be tested for celiac disease.  It is not meant to be used for self-diagnosis, but to help you to determine if you or your child should have the celiac disease panel blood test. 

Click here to access:  http://celiac.org/celiac-disease/symptoms/checklist/

What are the hidden symptoms we can’t feel?

A review paper in The New England Journal of Medicine listed 55 “diseases” that can be caused by eating gluten. Symtoms, including silent diseases, may include:

  • osteoporosis
  • irritable bowel disease
  • inflammatory bowel disease
  • anemia
  • cancer
  • fatigue
  • canker sores
  • rheumatoid arthritis
  • lupus
  • multiple sclerosis
  • almost all other autoimmune diseases

Gluten is also linked to many behavioral and neurological symptoms including:

  • anxiety
  • ataxia (problems with balance and coordination)
  • dementia
  • depression
  • epilepsy
  • migraines
  • neuropathy (nerve damage or tingling in the hands and feet) 
  • schizophrenia

It has also been linked to:

  • autism
  • heart disease
  • infertility

How does celiac disease effect oral health and tooth enamel?

A study reported in European Journal of Oral Sciences, April 2012, confirmed that gluten causes the body to produce an immune reaction against one of the main proteins responsible for producing enamel on the teeth. Enamel, the protective coating on teeth, is produced during the first couple years of life.  If celiac disease is present, but undiagnosed, it can lead to the malabsorption of the nutrients needed to produce enamel.  When permanent teeth appear, there is a greater likelihood of enamel defects, grooves, bands or pits may appear.  Lack of enamel leads to a variety of oral health problems including excessive cavities, excessive tooth wear and tear.  Other oral symptoms that have been tied to gluten sensitivity are: canker sores, geographic tongue, tonsilar stones, excessive mucus production (leads to chronic throat clearing), bad breath and inflammatory gum disease.

A good resource concerning the dental effects of celiac disease can be found at mainstreetsmiles.com

What causes Celiac Disease?

Currently, there are four theories that seem to cause CD:

Over-responsive immune system: Gluten is the trigger that turns on the autoimmune response. You produce antibodies to fight the enemy invader which causes damage to the intestinal villi.

Genetic predisposition: HLA-DQ2 or HLA-DQ8; 95% of people with CD have HLA-DQ2, and most of the remaining 5% have HLA-DQ8.

Personal and global environment:  Agricultural changes to wheat (hybridization) that have boosted its protein content may be a factor in the rise of CD, suggests Dr. Joseph Murray, gastroenterologist at the Mayo Clinic in Rochester, Minn. in the Mayo Clinic article in Discovery’s Edge, July 2010.  This concept has been questioned more recently, stating that commercially grown wheat has not been changed genetically. However, there has been an increase in a food additive called "vital gluten" that is being added to wheat flour food products.  Vital gluten consumption has tripled since 1977.

Hygiene Hypothesis:  Stefano Guandalini, MD, medical director of the University of Chicago Celiac Disease center hypothesizes that because of the obsessive cleanliness of our current society we may not be getting enough bacteria in the gut to combat autoimmune and allergic diseases.  During the critical times, from birth to the first 18 months of life, babies may not be exposed to enough dirt to fully develop the gut immune systems needed to avoid these diseases.

According to the University of Chicago Celiac Disease Center, early diagnosis of CD can prevent the development of other autoimmune disorders and additional complications in many people. Regular antibody testing is the key to early diagnosis.

Follow-Up Recommendations

It is recommended that individuals with CD discuss the following with their healthcare provider:

  • Dietary counseling:  immediately after diagnosis so you understand the basics of a healthy, balanced, and varied gluten-free diet
  • Analysis of potential nutritional deficiencies, including blood levels of iron, folic acid, vitamin B12, calcium, phosphorus, vitamin D, copper, zinc and fat soluble vitamins
  • Medication and supplement assessment for hidden gluten
  • Bone density analysis to screen for osteoporosis
  • Assessment of blood antibody levels: 6-12 months after following a gluten-free diet, possibly a yearly celiac panel
  • Follow-up biopsy in 2-3 years or a dGP (deamidated gliadin peptide)assay for nonresponsive celiac disease (NRCD)
  • Cancer screenings:  thyroid cancer, adrenocarcinoma of the small intestines,  non-Hodgkin’s lymphoma, esophageal cancer, and melanoma may be a higher risk for those with CD


Scientific American. 2009 “Surprises from Celiac Disease” by Alessio Fasano, professor of pediatrics, medicine and physiology and director of the Mucosal Biology Research Center and the Center for Celiac Research at the University of Maryland School of Medicine.

National Institute of Health Consensus Development Conference on Celiac Disease. Consensus Development Conference Statement 
June 28–30, 2004.

Celiac Disease: A Hidden Epidemic. By Peter H.R. Green, M.D. Director of the Celiac Disease Center at Columbia University. 2006.

N Engl J Med 2012; 367:2419-2426 December 20, 2012: 10.1056/NEJMcp1113994; Celiac Disease by Alessio Fasano, M.D., and Carlo Catassi, M.D., M.P.H.

Schizophr Bull 2011; Jan;37(1):94-100; Prevalence of celiac disease and gluten sensitivity in the United States clinical antipsychotic trials of intervention effectiveness study population.  Cascella NG, Kryszak D, Bhatti B, Gregory P, Kelly DL, McEvoy JP, Fassano A, Eaton WW

Gluten Freedom. By Alessio Fasano, M.D. Director of the Center for Celiac Research at Massachusetts General Hospital, Harvard Medical School with Susie Flaherty