Celiac disease is a hereditary autoimmune intestinal disorder that affects both children and adults. When an individual with this disorder consumes gluten (proteins found in the grains wheat, barley and rye), an immune reaction is triggered in the small intestine.
Tiny finger-like projections or villi in the small intestine become inflamed and eventually damaged from continued exposure to gluten. This process, called “villous atrophy,” may occur rapidly or gradually over time. As a result, the body is unable to adequately absorb nutrients, especially iron, calcium, vitamin D and folic acid. Also, malabsorption of carbohydrates (e.g., lactose [the carbohydrate in milk]), protein and other nutrients may occur.
Untreated celiac disease can lead to (1) nutrition-related deficiency conditions such as anemia and osteoporosis, (2) neurological complications, (3) infertility in both women and men, (4) an increased risk of miscarriage or of having a low-birth-weight baby, and (5) an increased risk of certain types of cancers.
Originally thought to be a rare disorder, celiac disease is now recognized as one of the most common inherited diseases. Serological (blood) screening tests have revealed that the global prevalence is approximately 1% of the population, although in some countries (e.g., Finland and Sweden) the rate is as high as 2%–3%. Celiac disease is common in people of North American and European ancestry, as well as in the populations of South America, North Africa, India, Pakistan and the Middle East.
Symptoms and Presentations of Celiac Disease
- Iron, folic acid and/or vitamin B12 deficiencies
- Other vitamin and mineral deficiencies
- (A, D, E, K, calcium)
- Chronic fatigue and weakness
- Abdominal pain, bloating and gas
- Indigestion/reflux (“heartburn”)
- Nausea and vomiting
- Ongoing or intermittent diarrhea and/or constipation
- Lactose intolerance
- Weight loss (note that CD also can occur in overweight or obese individuals)
- Bone/joint pain
- Muscle cramps
- Elevated liver enzymes
- Easy bruising of the skin
- Itchy, blistering rash (dermatitis herpetiformis)
- Tingling or numbness in hands and feet (peripheral neuropathy)
- Swelling (edema) of hands and feet
- Migraine headaches
- Mood swings
- Mouth ulcers (canker sores)
- Menstrual irregularities
- Infertility (in both women and men)
- Recurrent miscarriages
Additional symptoms in children
- Failure to thrive (delayed growth and short stature)
- Irritability and behavioral changes
- Concentration and learning difficulties
- Delayed puberty
- Dental enamel abnormalities (discoloration, loss of tooth enamel)
Diagnosis of celiac disease often is very difficult because of its diverse range of symptoms, some of which overlap with other conditions. Many individuals with celiac disease are misdiagnosed as having other disorders such as irritable bowel syndrome (IBS), lactose intolerance, ulcers and/or chronic fatigue syndrome. It has been shown that individuals with celiac disease see multiple physicians over an average of 11 years before receiving a definitive diagnosis, as shown in research studies conducted at Columbia University in New York and by the Canadian Celiac Association. Other countries have reported similar delayed diagnosis rates.
Various blood tests are used to screen for celiac disease including:
- IgA and IgG tissue transglutaminase (tTG)
- IgA endomysial (EMA)
- IgA and IgG deamidated gliadin peptide (DGP) antibody tests
Small Intestinal Biopsy
The definitive test for diagnosing celiac disease is a small intestinal biopsy, done in a hospital or clinic endoscopy unit.
A gluten-free diet should never be started before the celiac blood and small intestinal biopsy tests are completed, as this can interfere with making an accurate diagnosis.
Currently, the only treatment for celiac disease is a strict gluten–free diet for life. Following the diet will result in improved health and well-being, as well as greatly reduce the risk of celiac-related complications. The time needed for resolution of symptoms and the healing process varies considerably, with children tending to heal more quickly and completely than adults. Individuals with long-standing untreated celiac disease may require several years on the diet before the small intestinal damage is repaired. In some cases complete healing may not occur, especially if the villous atrophy is severe.
Dermatitis herpetiformis (DH) is another presentation of celiac disease. This chronic skin condition is characterized by an intense itchy and blistering rash. The rash is symmetrically distributed on both sides of the body. Commonly found on the elbows, knees and buttocks, it also can occur on the back of the neck, upper back, scalp and hairline. Initially, groups of small blisters (looking similar to those of chicken pox or herpes) are formed on the skin, and these soon erupt into small erosions. Most people with DH have varying degrees of small intestinal villous atrophy, although some have no gastrointestinal complaints.
Individuals with DH frequently are misdiagnosed as having other skin conditions such as eczema, contact dermatitis, allergies, hives, herpes or psoriasis. The only way to correctly diagnose DH is with a skin biopsy from unaffected skin adjacent to blisters or erosions. A small intestinal biopsy is not required if the skin biopsy is positive for DH.
The treatment for DH is a strict gluten–free diet for life. Following the diet allows the gastrointestinal damage to resolve within several months and over time results in an improvement in the skin lesions. Depending on the severity of the rash, between six months to two years on the diet may be necessary in order for the skin to heal completely.