Hereditary pancreatitis shares a majority of clinical and morphologic features with chronic
alcoholic pancreatitis, but may present at an earlier age. The term
hereditary pancreatitis has primarily been associated with mutations in the
serine protease 1 gene (PRSS1) which encodes for cationic
trypsinogen. PRSS1 mutations account for approximately 68-81% of
hereditary pancreatitis. Mutations in other genes, primarily
serine protease inhibitor Kazal type 1 (
SPINK1) and the
cystic fibrosis transmembrane conductance regulator (CFTR) are also associated with
hereditary pancreatitis. While chronic
alcoholic pancreatitis may develop in the fourth or fifth decades, patients with
hereditary pancreatitis may develop symptoms in the first or second decades of life.
Hereditary pancreatitis is diagnosed either by detecting a causative gene mutation or by the presence of
chronic pancreatitis in two first-degree or three second-degree relatives, in two or more generations, without precipitating factors and with a negative workup for known causes. Patients with
hereditary pancreatitis may have recurrent
acute pancreatitis and may develop pancreatic exocrine and endocrine insufficiency.
Hereditary pancreatitis may involve premature
trypsinogen activation or decreased control of
trypsin. Recurrent
inflammation can lead to
acute pancreatitis and subsequently to
chronic pancreatitis with parenchymal calcification. There is a markedly increased risk of
pancreatic carcinoma compared with the general population. Patients are often referred for evaluation of
pancreatitis, biliary or pancreatic ductal dilatation,
jaundice, biliary obstruction, pancreatic duct stone or
stricture,
pancreatic pseudocysts, and for evaluation for
malignancy. Medical treatment includes pancreatic
enzyme supplementation, nutritional supplementation, diabetes management, and palliation of
pain. Patients should avoid tobacco use and alcohol exposure.
Hereditary pancreatitis is reviewed and recommendations for genetic testing are discussed.