Hereditary Chronic Pancreatitis

Definition

Hereditary chronic pancreatitis (HCP) was firstly described about 70 years ago as a rare form of early-onset chronic relapsing pancreatitis, inherited in an autosomal dominant manner, with incomplete (80%) penetrance and with a variable expression of disease. The specific gene for HCP was identified in the mid-1990s as the protease serine 1 (PRSS1), mapped on chromosome 7q and encoding for cationic trypsinogen.

PRSS1 mutations account for the vast majority (up to 80%) of all cases of autosomal dominant HCP.

However, alterations in other genes have been found to increase susceptibility to classic chronic pancreatitis, with either familial or sporadic patterns. Thus, the more general term “familial pancreatitis” (as opposed to the strictly defined “hereditary pancreatitis”) is currently in use to describe recessive or complex phenotypes of “genetic” chronic pancreatitis, in the absence of a known syndrome (such as cystic fibrosis or CFTRgene-related disorders). Particularly,...