In the largest study of its kind, an international group of researchers found that genetics, birth defects, and ethnicity may play important roles in the occurrence of pancreatitis in children. Pancreatitis, or inflammation of the pancreas, is accompanied by abdominal pain, nausea, vomiting, and, in severe cases, permanent tissue damage. Pancreatitis can be acute (occurring suddenly and usually self-resolving after a few days) or chronic (long-lasting). In some cases, recurring acute episodes can lead to the more debilitating chronic form of the disease. While both forms of pancreatitis are more common in adults, they can also develop in children. However, researchers have struggled to identify the factors that put young people at risk for pancreatitis, partly because the most common risk factors for adults—gallstones and heavy alcohol use—are rare in children.
The multinational INSPPIRE (International Study Group of Pediatric Pancreatitis: In Search for a Cure) consortium was established to investigate the risk factors and outcomes of pediatric pancreatitis. The consortium, which has enrolled the largest cohort of pediatric pancreatitis patients to date, collected genetic, demographic, and clinical data from 301 children (girls and boys aged 19 and under) with acute recurrent or chronic forms of pancreatitis. The most common risk factor for pancreatitis in children was at least one mutation in any of four genes that are known to be associated with pancreatitis—CFTR, PRSS1, SPINK1, and CTRC. Mutations in PRSS1 and SPINK1 were more common in children with chronic pancreatitis than in children with acute recurrent pancreatitis, which means that mutations in these genes may increase the risk of transitioning from acute to chronic pancreatitis. Another risk factor found was obstruction of the pancreatic duct, most frequently by a relatively common birth defect known as pancreas divisum, in which the pancreas is drained by two smaller ducts instead of a single one. Other risk factors for pancreatitis that were identified were toxic or metabolic factors and autoimmune diseases, but they were not as common as genetic or obstructive factors. Many of the children in the study were found to have multiple risk factors for pancreatitis, suggesting that the disease may result from a complex interplay among more than one factor. The researchers also found that non-Hispanic children were more likely than Hispanic children to develop chronic pancreatitis. In addition to identifying risk factors, the INSPPIRE researchers also examined the burden of disease in children with pancreatitis. They found that children with both forms of pancreatitis endured significant abdominal pain, along with a number of emergency room visits and hospitalizations. Children with chronic pancreatitis had a higher number of emergency room visits and hospitalization than children with recurrent acute episodes, underscoring the need to diagnose and treat pancreatitis early to avoid progression of the disease to the chronic form.
Additional research is needed to tease out how these factors drive pancreatitis development and progression in children. However, overall, the results in this study suggest that there are potential ways to screen for increased risk of pancreatitis in children, such as genetic testing, possibly providing the opportunity for early intervention before the disease develops or becomes chronic.