“Genius is one percent inspiration and ninety-nine percent perspiration.” – Thomas A. Edison

I thought about this saying as I was reading an editorial titled: “Understanding Pediatric Chronic Pancreatitis: Inspiration and Hard Work Required” (Pant C, Sferra TJ. J Pediatr 2015; 166: 798-800). The editorial was reviewing the article “Pediatric Chronic Pancreatitis Is Associated with Genetic Risk Factors and Substantial Disease Burden” (Schwarzenberg SJ et al. J Pediatr 2015; 166: 890-6).

The study comes from the International Study Group of Pediatric Pancreatitis: In Search of a Cure (INSPPIRE) consortium.  None of the findings in the study are particularly surprising; nevertheless, a descriptive study of the patients in the registry who had strictly defined chronic pancreatitis (n=76) is still an important early step in improving our understanding of this dreaded problem.

Chronic pancreatitis required either:

• Abdominal pain consistent with pancreatic pain with imaging findings suggestive of chronic pancreatic damage
• Evidence of exocrine or endocrine pancreatic insufficiency and imaging findings suggestive of chronic pancreatic damage
• Histology (surgical biopsy) findings suggestive of chronic pancreatitis

Key points:

• Two-thirds of patients with genetic testing had identified genetic mutations: PRSS1 (n=33), SPINK1 (n=14), CFTR (n=11), chymotrypsin C (CTRC) (n=2).  Mutations in more than 1 gene were noted in 9 patients, including 6 of the 11 with CFTR mutations.  Several newer mutations, like calcium-sensing receptor and carboxypeptidase A1, were not evaluated in any of the patients.
• Pancreas divisum was present in 15 patients; however, 8 of 15 of these patients had an identified genetic mutation as well.
• Radiographic findings of chronic pancreatitis were most commonly ductal abnormalities and pancreatic atrophy. This is in contrast to adults in which pancreatic calcifications are common.
• The researchers also document severe disease burden with patients reporting a median of 3 emergency dept visits and 2 hospitalizations in the previous year. In addition, 70% (n=47) had missed 1 day of school in the past month and 34% had missed 3 or more days.
• Medical treatment (eg. pancreatic enzymes) was ineffective in the majority of patients.
• 43% had undergone ERCP and two-thirds noted improvement from this intervention
• Surgical procedures were performed in 39% and were helpful in the majority.  Total pancreatectomy with islet autotransplantation was the most common surgery in this cohort and was helpful in 20 of 21 patients.
• The authors recommend avoidance of CT scans due to concerns of accumulating excess ionizing radiation exposure.

Take home message: For me, this study helps define the problem.  As a practical matter, it would be helpful to have a genetic panel to check for the lesser frequent mutations if PRSS1, SPINK1, and CFTR are normal.

Related blog posts:

• Postgraduate Course Notes -Pancreatitis Module | gutsandgrowth
• Genetic Testing and the Future of Pediatric Gastroenterology …
• INSPPIRE for pancreatitis | gutsandgrowth
• For the pediatric pancreatologists | gutsandgrowth
• Does pancreas divisum cause pancreatitis? | gutsandgrowth
• Recurrent pancreatitis and genetic underpinnings | gutsandgrowth