There are four main categories of celiac disease. 1,2

Classical or typical celiac disease: It is characterized primarily by gastrointestinal features such as diarrhea, weight loss and associated abdominal pain or nutritional problems due to malabsorption. A biopsy of the small intestine will show villous atrophy and improvement of this atrophy will usually be seen on the gluten-free diet. Symptoms should also improve on a gluten-free diet.

Nonclassical or atypical celiac disease: There are few or no gastrointestinal symptoms. Non-gastrointestinal features, such as Dermatitis Herpetiformis (a very itchy skin rash), iron deficiency anemia, or osteoporosis are more common in atypical celiac disease. Like classical celiac disease, the diagnosis of atypical celiac disease is made by blood testing for antibodies commonly found in celiac disease. Villous atrophy is seen in the small intestinal biopsy and symptoms improve on a gluten-free diet. The 'atypical' presentation of celiac disease is currently the most common presentation.

Subclinical celiac disease (similar terms are Silent celiac disease and Asymptomatic celiac disease): Subclinical celiac disease is disease that is below the threshold of clinical detection without signs or symptoms sufficient to trigger celiac disease in routine clinical testing. 3 There are no related gastrointestinal or non-gastrointestinal symptoms or nutritional deficiencies seen but damage is still occurring to the small intestine. Villous atrophy can be seen. Individuals with subclinical celiac disease are usually found through screenings of high-risk individuals. Examples include a person with a family history of celiac disease or type 1 diabetes, or someone diagnosed on routine endoscopy that was performed for other reasons. The value of treating subclinical celiac disease with a gluten-free diet is uncertain.

Potential celiac disease: (relates to people with a normal small intestinal mucosa who are at increased risk of developing celiac disease as indicated by positive celiac disease serology) Blood tests are positive for celiac antibodies (either endomysial antibody or tissue transglutaminase antibody) but the small intestinal biopsy is normal with no evidence of villous atrophy. Individuals with potential celiac disease may develop active celiac disease later in life, either with symptoms or changes in their small intestinal biopsies. The value of treating potential celiac disease with a gluten-free diet is unproven. Most physicians recommend continuing on a normal diet but with increased awareness that active celiac disease may develop over time. 3

The Celiac Iceberg

Reference: Aybar, A, Fasano, A. A Global Disease: The Iceberg Dilemma. In Real Life with Celiac Disease: Troubleshooting and Thriving Gluten-Free . Eds. Dennis M, Leffler D. AGA Press. Bethesda, MD, 2010.

How does celiac disease develop?

Three conditions are necessary for celiac disease to develop:

  1. The person must have the genes (HLA-DQ2, HLA-DQ8, or both).
  2. The person must have been exposed to gluten (such as when a baby is given wheat cereal as infant food).
  3. Environmental or physiological (having to do with the body) factors may also contribute to the onset of celiac disease.

Environmental or physiological factors include surgery, pregnancy, childbirth, viral infections, or severe emotional stress. 4 Researchers are investigating other factors that may influence the symptoms of celiac disease including cow's milk formulas, breastfeeding, age at gluten introduction, quantity of gluten, and quality of cereals. 5,6 Researchers are trying to investigate this fascinating area of the disease.

Atypical symptoms of celiac disease that USUALLY respond to treatment with the gluten-free diet include : 7

Dermatitis Herpetiformis
Canker sores
Angular cheilitis (cracks at the corner of the mouth)
Abnormally high liver enzymes on blood testing
Anemia from deficiency of iron, B12, and/or folic acid

Atypical symptoms that SOMETIMES respond to the gluten-free diet: 7

  • Reduced function of the spleen
  • Fatigue
  • Depressed mood
  • Poor concentration
  • Alopecia (hair loss)
  • Follicular keratosis
  • Dental enamel loss
  • Short stature
  • Thinning of bones (osteoporosis and osteopenia)
  • Joint pains
  • Reduced fertility
  • Recurrent miscarriages

Conditions associated with celiac disease that ARE NOT expected to respond to the gluten-free diet include: 7

  • IgA deficiency
  • IgA nephropathy
  • Sarcoidosis
  • Lupus (SLE)
  • Poor coordination (cerebellar ataxia)
  • Tingling and numbness of hands and feet (peripheral neuropathy)
  • Seizure disorder
  • Patches of depigmentation on the skin (Vitiligo)
  • Primary biliary cirrhosis
  • Autoimmune hepatitis
  • Rheumatoid arthritis
  • Type 1 diabetes
  • Thyroid disease
  • Addison's disease
  • Fibrosing alveolitis
  • Pulmonary hemosiderosis
  • Lung cavities

What is non-celiac gluten sensitivity (NCGS)?

Non-celiac gluten sensitivity (NCGS)
, also called "gluten intolerance" by the general public, is generally thought of as a functional disease. It affects how your body functions, but no physical reason for the symptoms can be detected. In NCGS the intestine is normal. It is believed to be related to how the nerves control digestion, although subtle changes in the immune system may also play a role. We don't know yet if NCGS is a type of functional disorder or whether some people with NCGS actually have a very mild immune reaction to gluten. NCGS can mimic the symptoms of celiac disease so it can be very confusing to diagnose. 7

NCGS is a diagnosis of exclusion. This means that your doctor will only give you a diagnosis of NCGS if both celiac disease and a gluten or wheat allergy have been ruled out. By definition, people with NCGS feel better on a reduced gluten-containing diet. However, whether this is a life-long condition and to what degree gluten should be avoided is currently under investigation. Until such data is available, people with NCGS should do whatever they feel offers them the best quality of life overall.

NCGS is currently a very popular research topic. Researchers are trying to understand if it is linked to Irritable Bowel Syndrome or if it is a separate disorder. They are also investigating how it develops, who it affects, and how it may progress. You will be reading much more about NCGS in the future.

If I suspect celiac disease, should I start a gluten-free diet before I see the gastroenterologist?

  • It is important to have an endoscopy with biopsies of the small intestine BEFORE starting a gluten-free diet. Once on the diet, the intestine will start to heal and this will make it difficult to make a diagnosis by biopsy. 8

Does it matter how quickly I get an official diagnosis?

  • The longer a person goes undiagnosed and untreated, the greater the chance of developing long-term complications. 4
  • Once a diagnosis of celiac disease is made, silent manifestations of the disease, including osteoporosis and vitamin and mineral deficiencies such as iron, folate and vitamin D deficiency, should be screened for and detected. The duration of gluten exposure does correlate with the risk of developing associated autoimmune diseases; therefore, early diagnosis is preferable. 9


  • With more widespread use of antibody testing and small intestinal biopsies to diagnose celiac disease, several categories of celiac disease have now emerged. These include classical disease, atypical presentations, subclinical and potential forms of the disease. Knowing which form of celiac disease you have is important information for you and your doctor.
  • The atypical form of celiac disease is currently the most common or typical presentation of this illness. For this reason, both patients and physicians need to be on the close look-out for the wide variety of symptoms and to screen for celiac disease so that it can be diagnosed as early as possible.
  • Non-celiac gluten sensitivity (NCGS) is an increasingly recognized clinical condition with gastrointestinal symptoms similar to those found in celiac disease. It is important to evaluate for celiac disease and/or a wheat or gluten allergy before starting a gluten-free diet, as NCGS is a diagnosis of exclusion.


  1. Dennis M., Leffler D. Life with a Gluten-Related Disorder. In Real Life with Celiac Disease: Troubleshooting and Thriving Gluten-Free . AGA Press. Bethesda, MD, 2010.
  2. National Institutes of Health Consensus Development Conference Statement. Celiac Disease 2004. ( http://consensus.nih.gov/2004/2004celiacdisease118html.htm). Accessed October 1, 2011.
  3. Ludvigsson JF, et al. The Oslo definitions for coeliac disease and related terms. Gut 2012 Feb 16. (Epub ahead of print).
  4. ADA Evidence Analysis Library. Celiac Disease. http://www.adaevidencelibrary.com/topic.cfm?cat=2826 . Accessed October 1, 2011.
  5. NIH Publication No. 08-4269 September 2008. http://digestive.niddk.nih.gov/ddiseases/pubs/celiac/ Accessed August 11, 2011.
  6. Radlovic et al. Early feeding practices and celiac disease in infants. Croat Med J. 2010; 51: 417-22.
  7. Fasano A, Catassi C. Current approaches to diagnosis and treatment of celiac disease: an evolving spectrum. Gastroenterology 2001; 120:636-51.
  8. Kelly C. Common and Uncommon Presentations of Celiac Disease. In Real Life with Celiac Disease: Troubleshooting and Thriving Gluten-Free . Eds. Dennis M, Leffler D. AGA Press. Bethesda, MD, 2010.
  9. Leffler D. Endoscopy in Celiac Disease. In Real Life with Celiac Disease: Troubleshooting and Thriving Gluten-Free . Eds. Dennis M, Leffler D. AGA Press. Bethesda, MD, 2010.
  10. Celiac Disease Center at Columbia University. Diagnosis of celiac disease. http://www.celiacdiseasecenter.columbia.edu/C_Doctors/C01-HOME.htm

    Revision Date: 10-31-12
    Authors: Melinda Dennis, MS, RD, LDN and Annie Peer
    Editors: Suzanne Simpson, RD and Rupa Mukherjee, MD

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