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Likelihood of Genetic Disease with Early-Onset Pancreatitis

August 29, 2017 7:00 am

Another study (MJ Giefer et al. J Pediatr 2017; 186: 95-100) from the INSPPIRE group provides data on early-onset pancreatitis. Specifically, the group presents clinical information on 342 children with acute recurrent pancreatitis or chronic pancreatitis regarding disease burden and associations with genetic mutations.

Key findings:

Genetic disease is much more common in younger ages:

In subset younger than 6 years, 72 of 102 had genetic diseases identified: PRSS1 in 42, CFTR in 27, SPINK1 in 12, and CTRC in 8.
In subset 6-11 years of age, 52 of 90 had genetic diseases identified: PRSS1 in 20, CFTR in 23, SPINK1 in 22, and CTRC in 1.
In subset greater than 12 years of age, 39 of 72 had genetic diseases identified: PRSS1 in 13, CFTR in 24, SPINK1 in 6, and CTRC in 1.
Testing for newer susceptibility genes were not evaluated as they had not become commercially available: carboxypeptidase 1, claudin 2, carboxylesterlipase, and carboxyesterlipase-hybrid
SPINK1 is noted to be present in 1-3% of general population; CTRC mutation occur in 0.7% of healthy controls.

Obstructive causes were common. Pancreas divisum was identified in 38 patients but there was not a great deal of difference among the age groups; similarly, other obstructive causes were identified in about one-third of patients and included sphincter of Oddi dysfunction (n=9), gallstones (n=17), pancreaticobiliary malunion (n=12), biliary cyst (n=11), pancreatic stricture (n=2), annular pancreas (n=3), and duodenal diverticulum.

Disease burden:

Exocrine insufficiency noted in 52 (no strong age predilection)
Diabetes in 18 (11 of the cases occurred in those >12 years)
Constant moderate pain noted in 82 (25 in group <6, 27 in 6-12 group, and 30 in group >12 years)
Constant severe pain noted in 18 (4 in group <6, 5 in 6-12 group, and 9 in group >12 years)
Average number of hospitalizations in past year was 1 in those ≤12 and 2 in those older than 12.

My take: PRSS1 and CTRC mutations are associated with early onset pancreatitis.

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