Celiac disease is an inherited, autoimmune disease. The lining of the small intestine is damaged in response to ingestion of gluten and other proteins found in wheat, barley, rye, possibly oats, and their derivatives.

The intestines contain projections (called villi) that normally absorb nutrients. In undiagnosed or untreated celiac disease, these villi become flattened and the ability to absorb nutrients properly is altered. As a result, several other organ systems may also be affected. The disease can first develop at any point in life from infancy to late adulthood.

The exact cause of celiac disease is unknown. Once thought rare, recent research suggests that an estimated 1 of every 133 Americans has celiac disease. However, only a small fraction of people living with it have been diagnosed in the United States at this time.

Those with a family member with celiac disease are at greater risk for developing the disease. The disorder is most common in Caucasians and those of European ancestry. Women are affected more commonly than men.

There are numerous diseases and conditions associated with celiac disease. Some of these include anemia, lactose intolerance, dermatitis herpetiformis (a burning, itching, blistering rash), and other skin disorders, type 1 diabetes, thyroid disease, Down syndrome, unexplained infertility, miscarriage, osteoporosis/osteopenia, certain types of intestinal cancer, neurological conditions, and autoimmune disorders such as rheumatoid arthritis and systemic lupus erythematosus.

The symptoms of celiac disease can vary significantly from person to person. Symptoms may be intestinal or seemingly non-intestinal in nature. This variability is part of the reason the diagnosis is frequently delayed. For example, one person may present with constipation, another with diarrhea, and yet a third with no irregularity in stooling.

A partial listing of gastrointestinal symptoms:

• Abdominal pain
• Abdominal distention, bloating, gas, indigestion
• Constipation
• Decreased appetite (may also be increased or unchanged)
• Diarrhea, chronic or occasional
• Lactose intolerance (common upon diagnosis; usually resolves following treatment)
• Nausea and vomiting
• Stools that float, are foul smelling, bloody, or “fatty”
• Weight loss, unexplained (although people can be overweight or of normal weight upon diagnosis)

A partial listing of non-intestinal symptoms:

• Anemia (low blood count)
• Bone and joint pain
• Bone disease (osteoporosis, kyphoscholiosis, fracture)
• Breathlessness (due to anemia)
• Bruising easily
• Dental enamel defects and discoloration
• Depression
• Fatigue
• Growth delay in children
• Hair loss
• Hypoglycemia (low blood sugar)
• Irritability and behavioral changes
• Malnutrition
• Mouth ulcers
• Muscle cramps
• Nosebleed
• Seizures
• Short stature, unexplained
• Skin disorders (dermatitis herpetiformis)
• Swelling, general or abdominal
• Vitamin or mineral deficiency, single or multiple nutrient (for example, iron, folate, vitamin K)

A complete blood count (CBC) may indicate anemia. It is important to determine the cause if anemia is detected. An elevated alkaline phosphatase level may indicate bone loss, which is commonly experienced before diagnosis. Low cholesterol and albumin levels may reflect malabsorption and malnutrition. Mildly elevated liver enzymes and abnormal blood clotting may also be noted.

There are several antibody blood tests that are useful in screening. A panel consisting of Antiendomysial antibody (IgA), Antitransglutaminase (IgA), Antigliadin (IgA and IgG), and total serum IgA is typically ordered. Combined, these antibodies provide a sensitive and specific indicator for the presence of celiac disease.

An EGD (endoscopy) with small bowel biopsy, particularly of distal duodenum and jejunum, the sections of the intestine most commonly affected. This will show an abnormal intestinal lining (some degree of "villous atrophy" -- flattening of the villi).

A follow-up biopsy or blood work may be ordered several months after the diagnosis and treatment. These serve as a final confirmation of the disease. "Normal" results suggest the patient has responded appropriately to treatment, thereby confirming the diagnosis. This does not suggest, however, that the disease has been cured. The treatment for celiac disease is the gluten-free diet.

A life-long gluten-free diet is required. This allows the intestinal villi to heal. Foods, beverages, and medications which contain wheat, barley, rye, and possibly oats are eliminated completely. You must read food and medication labels carefully to look for "hidden" sources of these grains and their derivatives. Since wheat and barley grains are found abundantly in the American diet, the treatment is challenging but achievable with education and planning.

You should NOT begin the gluten-free diet before a diagnosis is made. Doing so will alter future testing for the disease.

Vitamin and mineral supplements may be prescribed to correct nutritional deficiencies. Occasionally, corticosteroids (such as prednisone) may also be prescribed for short-term use or if you have refractory sprue. Following a well-balanced, gluten-free diet is generally the only treatment required for achieving wellness and eliminating symptoms.

Upon diagnosis, seek consultation from a registered dietitian with a specialty in celiac disease and the gluten-free diet. Joining a local and national support group can also be invaluable in helping one to cope with the disease and diet.

For additional information and support, see the organizations listed in celiac disease resources.

Depending on the degree of intestinal damage prior to diagnosis, the improvement in symptoms may vary in duration once treatment begins. The gluten-free diet must be carefully and continuously followed. When untreated, the disease can cause life-threatening complications. A delayed diagnosis or non-compliance with the diet places one at risk for developing associated conditions such as infertility, miscarriage, osteoporosis, fractures, certain types of intestinal cancer, or other autoimmune disorders.