Genetic Component Underlying Eosinophilic Esophagitis Identified By Scientists

Genetic Component Underlying Eosinophilic Esophagitis

New advances are  made in treating a rare form of esophagitis, that is eosinophilic esophagitis. According to the study  published in the Journal of Allergy and Clinical Immunology, researchers have discovered a genetic component underlying the disease.

Eosinophilic esophagitis is a disease that occurs mainly in children, but it has also been described in adults. It occurs in the context of food allergy and is actually an inflammation of the esophagus wall which is infiltrated with eosinophils, a type of white blood cells normally present in blood. It is possible that the disease is underdiagnosed, as is sometimes confused with reflux esophagitis.

Eosinophilic Esophagitis

In the past 20 years the disease has become increasingly common. According to Rothenberg and his laboratory team, the incidence of disease is at least 1,000 cases. The cause of esophagitis if often acid reflux, which is manifested by heartburn, especially after eating. Other causes include viruses such as herpes simplex, radiation, certain drugs (antibiotics such as tetracycline). It is believed that the cause of eosinophilic esophagitis is allergy because, on the one hand, the esophagus is infiltrated with eosinophils, cells that appear in other allergies, and on the other hand, eosinophilic esophagitis usually occurs due to a food allergy. Most commonly, eosinophilic esophagitis is manifested by dysphagia, but it can be accompanied by weight loss, heartburn, vomiting.

Recently, researchers from Cincinnati Children’s Hospital at the Medical Center have identified a genetic component underlying the disease. They found an anomaly of microRNAs, which is reversed by administration of steroids. The study’s senior investigator, Marc E. Rothenberg, MD, PhD, director of Allergy and Immunology and the Center for Eosinophilic Disorders at Cincinnati Children’s, points out that this finding is extremely valuable because it can be a step forward in diagnosing and treating this disease little known until now.

The research conducted by researchers at Cincinnati Children’s Hospital from Medical Center, facilitates the diagnosis of eosinophilic esophagitis, particularly in children. Until now, children with this disease needed to be diagnosed using a rather invasive method, that is endoscopy. Thanks to the study, patients suffering from this disease can now be diagnosed by a simple blood test that measures microRNAs.

Researchers analyzed the cases of patients with active  eosinophilic esophagitis,  esophagitis that responded to steroid treatment, non-chronic eosinophilic esophagitis and healthy patients. Thus, scientists have found that eosinophilic esophagitis is associated with increased microRNAs blood levels, specifically miR-21 and miR-223. Also, what the researchers noted was that these high levels of microRNAs return to normal after administering steroids.