Dr. Matthew Giefer’s pioneering research into the causes of early-onset pancreatitis has created new potential for diagnosing and treating the disorder in children.

Understanding the causes of pediatric pancreatitis – a condition many doctors may overlook when seeing children with abdominal issues – can lead to more timely and effective treatments.

It appears that genetics play a bigger role than previously thought, according to research conducted by Dr. Matthew Giefer, director of Gastrointestinal Endoscopy at Seattle Children’s and assistant professor at UW Medicine, and an international team of physicians involved in the INSPPIRE (International Study group of Pediatric Pancreatitis: In search for a cuRE) trial.

The team analyzed 342 children ages 0 to 18 diagnosed with either acute recurrent or chronic pancreatitis and found that family history and mutations on the PRSS1 or CTRC genes were the factors most strongly associated with early-onset pancreatitis. Surprisingly, 71% of children with this form of the disease had at least one gene mutation known to cause pancreatitis. Children with later onset pancreatitis, which generally develops after age 6, were less likely to have these genetic risk factors.

Giefer published his findings in the May 2017 issue of The Journal of Pediatrics.

A pathway to better treatments

“This was an important study because it redefines how we think about what causes recurrent and chronic pancreatitis in children,” Giefer says. “It shows that one of the main things we need to look at is the presence of genetic abnormalities.”

There isn’t yet a way to reverse genetic mutations that cause pancreatitis, but Giefer says understanding the role genes play can improve the care physicians provide.

“Knowing a child has a specific gene mutation is important because you can better anticipate their disease course and start supportive therapy at the right time,” he said.

For example, Giefer and his colleagues have shown that children with PRSS1 mutations have an increased instance of more aggressive forms of pancreatitis. A better understanding of a child’s genetics would allow doctors to tailor treatments to the child’s specific disease course. Genetics might also predict how a patient responds to treatment or pain management – two additional areas Giefer plans to investigate.

Filling the gaps in pediatric GI care

Giefer’s focus on advancing pancreatitis care in children has taken his career in another unique direction. During his fellowship, he noticed a large number of patients who needed specialized endoscopic procedures, including endoscopic retrograde cholangiopancreatography (ERCP). He chose to complete advanced fellowship training in therapeutic endoscopy and then brought that specialized skill set to Seattle Children’s, which now offers the only pediatric therapeutic endoscopy program in the Pacific Northwest.

“I became interested in studying pediatric pancreatitis and therapeutic endoscopy because I noticed there was a need,” Giefer says. “Pancreatitis is commonly diagnosed in both adults and children, but the disease can present very differently, and there are unique aspects that need to be considered when evaluating and treating pediatric pancreatitis. It was important to me that all children in the Pacific Northwest benefit from the best and most advanced gastroenterology care available anywhere in the world.”

Call 206-987-7777 for provider-to-provider patient consults and visit the Pancreatitis Clinic page to learn more.