Cincinnati Children's researchers develop first molecular test to diagnose eosinophilic esophagitis

Researchers at Cincinnati Children's Hospital Medical Center have developed the first molecular test to diagnose eosinophilic esophagitis (EoE), a chronic upper gastrointestinal disorder. The incidence of EoE has skyrocketed since it was first characterized two decades ago.

The test, based on a 96 gene expression profile, "offers an unprecedented opportunity to improve diagnosis and treatment, and a platform approach for other inflammatory diseases," says Marc Rothenberg, MD, PhD, director of allergy and immunology at Cincinnati Children's and senior author of the study. Up to now, gene expression profiling has not yet been well applied to inflammatory diseases, he says.

The study is published in the Dec. issue of the journal Gastroenterology. The lead author of the study is Ting Wen, PhD, a researcher in the Rothenberg lab at Cincinnati Children's.

The researchers used bioinformatics tools to develop the EoE diagnostic panel, which is composed of a 96 gene PCR array - considered the most reliable tool for analyzing the expression of a focused panel of genes.

The panel was developed from a set of esophageal biopsy samples from children diagnosed with EoE and from some children who do not have EoE. The researchers applied the panel to 148 children and adults with EoE and found it identified patients with approximately 96 percent sensitivity and 98 percent specificity. The diagnostic panel was also able to distinguish patients in remission from those who did not have EoE.

The researchers have preliminary evidence that the panel could identify patients likely to have disease relapse following treatment.

In eosinophilic esophagitis, a type of white blood cell (eosinophil) builds up in the tube that connects your mouth to your stomach (esophagus) as a reaction to foods, allergens or acid reflux. When that happens, the eosinophils can inflame or injure the esophageal tissue.

Eosinophilic Esophagitis (EoE)

Eosinophilic (ee-uh-sin-uh-fil-ik) esophagitis (EoE) is a recently recognized allergic/immune condition. A person with EoE will have inflammation or swelling of the esophagus. The esophagus is the tube that sends food from the mouth to the stomach.

In EoE, large numbers of white blood cells called eosinophils are found in the tissue of the esophagus. Normally there are no eosinophils in the esophagus. EoE can occur at any age and most commonly occurs in Caucasian males. The symptoms of EoE vary with age. In infants and toddlers, you may notice that they refuse their food or are not growing properly. School-age children often have recurring abdominal pain, trouble swallowing or vomiting. Teenagers and adults most often have difficulty swallowing. The esophagus can narrow to the point that food gets stuck. This is called food impaction and is a medical emergency.