We need to try to understand why this increase in prevalence is occurring, and why is it occurring in this specific patient?”
– Tony Guerrerio, MD, PhD
The director of the Very Early Onset Inflammatory Bowel Disease Clinic discusses the increasing prevalence of IBD among young children and genetic approaches to diagnose and treat it.
How would you characterize the incidence of IBD today?
Inflammatory bowel disease, which includes Crohn’s disease and ulcerative colitis, affects between 1.5 million and 3 million Americans, of which 6% are diagnosed in the very early onset — less than 6 years of age. The incidence of IBD in the adult population appears to be stable, while the diagnosis in children under 6 is increasing.
Why is that?
We don’t know. We do know that the increase is occurring here in the United States and in newly industrialized countries that have transitioned to westernized culture and diet. Susceptibility appears to be a combination of a patient’s genetics, immune response and environment. We need to try to understand why this increase in prevalence is occurring — and why is it occurring in this specific patient?
Could you elaborate?
We’re still working to understand who is going to develop IBD. We know it’s a complex interplay of the individual genetics of the microbiome, the makeup of different species that live in their intestines and their environment. In a person with the right genetics and the right microbiome, something happens in the environment that tips things over the edge and leads to the development of inflammation and white blood cells that are acting like there’s an infection when there isn’t one. What are the susceptibilities, and who are the at-risk people we need to pay attention to?
So how do you diagnose early onset IBD?
Through the patient’s history, symptoms, what’s going on in their life, their laboratory workup, and imaging and biopsy results from endoscopy and colonoscopy. Also, all patients who come to our center get an immunologic workup and evaluation. If you have an immune dysregulation, does that make you more susceptible to inflammatory bowel disease? There are certain genetic conditions that make you more susceptible to inflammatory bowel disease, so we also use whole genome sequencing to search for gene defects in children 5 years and under. Also, we sometimes do targeted sequencing of specific genes that may be active.
Which tells you what?
The findings regarding changes in the protein do not tell us the severity of disease, of what is going to happen, but they alert us to look for different treatments specific to addressing the particular pathway that protein is in. Also, if we find something that has not been reported in the literature, through working with our colleagues in genetics we’re able to take the data and look at it from a research standpoint.
What are the treatment options?
The two main ones used today are topical medicines, which coat the inside of the intestines and help fight inflammation, and biologics — antibodies that block very specific signaling molecules between white blood cells. These molecules are particularly active in IBD.
Does surgery come into play?
Some patients with very early onset IBD require surgery for problems like perinatal abscesses. We refer them to pediatric surgeons Isam Nasr and Alejandro Garcia in our anorectal constipation clinic. Sometimes they will see a patient with signs of early onset IBD before we do, suspect IBD and refer the patient to us. Also, our nutritionist works with patients to develop dietary interventions to maximize their nutrition. Our diverse team in the early onset IBD clinic also includes a medical psychologist.