Idiopathic vs Hereditary Pancreatitis

Identification of Patients with Genetic Risk Factors of Pancreatitis: Impact on Treatment and Cancer Prevention

“…This is in accordance with other publications in which 200-400 patients were analyzed [16,17]. Only studies investigating less than 100 patients found a high percentage of trypsinogen mutations [15]. It is interesting to see that the lower the number of investigated patients, the higher was the percentage of mutations (and the higher was the impact factors of the journal in which the data were published).…”

“…In addition, an estimation of the percentage of mutations in the different groups can only be achieved when large numbers of patients are studied. By investigation of more than 800 patients with non-alcoholic pancreatitis without family history we found that an autosomal-dominant trypsinogen mutation is extraordinarily rare [15]. This is in accordance with other publications in which 200-400 patients were analyzed [16,17].…”

Role of genetic disorders in acute recurrent pancreatitis

“…Interestingly, the smaller the study was, the larger were the percentages of mutations and the higher were the impact factors of the journals in which the data were published. As noted already [12] this was nice example for a publication bias favouring "positive" findings that are preferably published in journals with high impact factor. Table 1 shows an overview on the frequency of the various mutations in the different groups of patients.…”

Extensive Molecular Analysis Suggested the Strong Genetic Heterogeneity of Idiopathic Chronic Pancreatitis

“…Mutations in the PRSS1 gene were found in about 1.9% of IP patients ranging from 0.2% to 10% (7,8), while the prevalence of the most common mutation N34S in SPINK1 gene is about 2% (9) in such cases. Furthermore, 43% and 11% of patients with idiopathic recurrent pancreatitis or CP carried one and two cystic fibrosis transmembrane conductance regulator (CFTR) mutations, respectively, even if symptoms suggestive for cystic fibrosis (CF) are absent in most cases (10)(11)(12).…”

“…The 70 genes selected were classified into six groups according to the activity of the encoded protein or their role in the pathogenesis of pancreatitis: (i) genes encoding proteins potentially involved in premature intrapancreatic activation of trypsin (CFTR, PRSS1, PRSS2, SPINK1, CTRC, CTSB, KRT8 and CASR) (23)(24)(25)(26)(27)(28)(29)(30); (ii) CF modifier genes the risk increases for patients with residual pancreatic function (about 10% of cases). However, also excluding all such causes, about one-third of recurrent/ chronic pancreatitis remains idiopathic, and this number is higher in children, who seldom report the classical risk factors observed in adults (8).…”