Pancreatitis, Hereditary

Definition and Characteristics

Hereditary pancreatitis is characterized by recurrent episodes of acute pancreatitis or a priori as chronic pancreatitis in several members of one family in the absence of other causes of pancreatitis. Classical hereditary pancreatitis follows an autosomal dominant expression pattern with incomplete penetrance of approximately 80%. The onset of hereditary pancreatitis is bimodal with a first peak of onset at 1–6 years and a second at 18–24 years of age. The median age of onset is 10–13 years. Apart from hereditary pancreatitis, cystic fibrosis is another inherited cause of chronic pancreatitis and mutations within the CFTR gene have been associated with an increased risk for the onset of pancreatitis [1,2].

Prevalence

The incidence in Western Europe and North America of acute pancreatitis varies from 4.8 to 24.2 per 100.000 and of chronic pancreatitis from 3.5 to 7.7 per 100.000. Less than 2% of all these cases are related to hereditary pancreatitis with...