Celiac disease is a genetic autoimmune disorder that affects all systems in the body. It can cause symptoms such as diarrhea, vomiting, stomach pain, rashes, intestinal infections, fatigue and depression. It is managed with a gluten-free diet to let the intestine heal.
Currently, celiac disease testing without biopsy tests and biopsies of the small intestine, which check for damage to the villi that are characteristic of the condition. The blood test most often used checks for antibodies to an enzyme found in the lining of the small intestine, called tissue transglutaminase (tTG). The most sensitive tTG tests are usually done with a sample from the feces, but healthcare providers also use a procedure known as an upper endoscopy, which involves threading an instrument with a camera down your throat, and sometimes into your stomach and small intestine, to get a small biopsy specimen of the lining.
Celiac Disease Testing Without a Biopsy: Is It Reliable?
However, some recent studies have raised the possibility of diagnosing celiac disease with serology tests alone. This approach would eliminate the need for a biopsy, and it could be especially useful for diagnosing symptomatic children with tTG-IgA >10X the normal limit who have positive EMA. However, the authors of a recent study warn that relying on serology only may result in false-positive diagnoses, unnecessary dietary restriction and negative effects on patients’ quality of life.
Those who are at high risk of celiac disease should be tested, especially children 3 years and older or adults with close relatives who have biopsy-confirmed celiac disease. Consumer gene testing companies such as 23andMe can also screen for genes associated with celiac disease.