Celiac Disease

If you suspect celiac disease, get tested before going gluten-free.

That is the single most useful thing on this page, so it comes first. Testing for celiac disease only works while you are still eating gluten. Both the blood tests and the biopsies look for damage that heals once gluten is removed, so someone who has been gluten-free for weeks may test negative even if they have the disease. That leaves them with a lifelong restrictive diet and no diagnosis, which matters for family screening, for monitoring, and for knowing whether the diet is actually necessary.

If you have already stopped eating gluten, do not despair and do not simply resume it on your own. Tell us, and we will work out the right approach with you.

What It Is

Celiac disease is an immune reaction to gluten, a protein in wheat, barley, and rye. In people with the condition, eating gluten causes the immune system to damage the lining of the small intestine, which impairs absorption of nutrients. It is not an allergy and it is not an intolerance. It is an autoimmune disease with a specific diagnosis and specific consequences if untreated.

Symptoms

The digestive symptoms are the well-known ones — diarrhea, abdominal pain, bloating, gas, and weight loss. But a great many patients have little or no digestive upset at all, which is why the diagnosis is so often missed for years.

• Iron deficiency anemia that does not respond to supplements
• Persistent fatigue
• Osteoporosis or unexplained bone loss
• An itchy blistering rash (dermatitis herpetiformis)
• Mouth ulcers
• Elevated liver enzymes
• Infertility or recurrent miscarriage
• Numbness or tingling in the hands and feet

Unexplained iron deficiency anemia in an adult is one of the more common ways celiac disease is eventually found.

Who Should Be Tested

Testing is worthwhile if you have unexplained digestive symptoms, iron deficiency anemia, early osteoporosis, or persistently abnormal liver enzymes. It is also worthwhile if a first-degree relative has celiac disease, since the risk in close relatives is substantially higher than in the general population — that includes people with no symptoms at all. Certain autoimmune conditions, particularly type 1 diabetes and autoimmune thyroid disease, are associated with celiac disease as well.

How We Diagnose It

Diagnosis starts with blood tests for celiac antibodies. If those are positive or suspicion remains high, an upper endoscopy with biopsies of the small intestine confirms it by showing the characteristic damage. The endoscopy is a short outpatient procedure done under sedation.

Treatment and Follow-Up

The treatment is a strict, lifelong gluten-free diet. Strict is the operative word: small amounts of gluten, including cross-contamination from shared equipment, are enough to keep the immune reaction going even without obvious symptoms.

A diagnosis is the beginning of care rather than the end of it. We check for and correct the deficiencies that commonly accompany it — iron, B12, folate, vitamin D, and calcium — assess bone health, monitor antibody levels and symptoms to confirm the diet is working, and recommend testing for first-degree relatives. Patients who continue to have symptoms on a gluten-free diet need re-evaluation rather than a stricter version of the same advice, since there are several possible explanations.