Because there are so many rare diseases that we still have so much to learn more about, there are many instances where we believe that diseases overlap or are variations of each other. As we discover more and more through research, we find that certain conditions are actually unique and need to be defined as such. A recent study published in Gastroenterology reports an instance in which this occurred with a rare disease called eosinophilic colitis.

About the Study

Prior beliefs surrounding eosinophilic colitis (EC) told us that it overlapped with other eosinophilic conditions and inflammatory bowel disease (IBD) and to treat it as such. Now, recent research has shown us that EC is a distinct, unique disease. Knowing this, medical professionals can begin to make diagnostic techniques and treatments better equipped for EC.

In order to discover this, the research team utilized RNA sequencing on biopsies of colon tissue sourced from 61 people. Each person either had Crohn’s disease or EC, or they were a healthy control. Results include:

• Almost 1,000 genes were found to be unique to EC
  • Genes like CCL11 and CLC were found to relate specifically to eosinophil count in the colon
  • Other genetic associations include increased cell death and decreased cell-cycle functions
• Possible targets for therapeutic development

Looking Forward

Armed with this knowledge, medical professionals are better positioned to create viable diagnostic and treatment methods for EC patients. You can read more about the study and its implications here.

About Eosinophilic Colitis (EC)

EC falls into the larger category of eosinophilic-associated disorders, meaning that eosinophils (a form of white blood cell) accumulate and cause damage. In EC, this accumulation occurs in the colon. Medical professionals are unsure as to why exactly this happens, but they have associated the rare condition with allergies. Symptoms include:

• Diarrhea
  • This may be bloody
• Stomach pain
• Issues with weight gain (unable to gain weight)
• Trouble eating
• Fatigue
• Anemia
• Weight loss/poor growth

Learn more about EC with Cincinnati Children’s Hospital.