Autosomal dominant hereditary chronic pancreatitis

Autosomal dominant hereditary chronic pancreatitis (also known as hereditary pancreatitis or familial pancreatitis) is a rare genetic disorder characterized by recurrent episodes of acute pancreatitis that typically progress to chronic pancreatitis over time. The disease primarily affects the pancreas, a vital organ responsible for producing digestive enzymes and hormones such as insulin. It is most commonly caused by gain-of-function mutations in the PRSS1 gene (cationic trypsinogen gene) on chromosome 7, which leads to premature or inappropriate activation of trypsinogen within the pancreas, triggering autodigestion and inflammation of pancreatic tissue. Symptoms typically begin in childhood, often before the age of 10, with recurrent episodes of severe abdominal pain, nausea, and vomiting characteristic of acute pancreatitis. Over years to decades, the recurrent inflammatory episodes lead to progressive damage of the pancreas, resulting in chronic pancreatitis with features such as pancreatic calcifications, exocrine pancreatic insufficiency (causing maldigestion, steatorrhea, and malnutrition), and endocrine insufficiency (leading to diabetes mellitus). Patients with hereditary pancreatitis have a significantly elevated lifetime risk of developing pancreatic cancer, estimated at approximately 40% by age 70, necessitating long-term surveillance. Treatment is primarily supportive and symptomatic. Management includes pain control during acute episodes, pancreatic enzyme replacement therapy to address exocrine insufficiency, insulin therapy for diabetes, dietary modifications (including low-fat diets and avoidance of alcohol and tobacco), and nutritional supplementation. In severe or refractory cases, endoscopic interventions or surgical procedures such as lateral pancreaticojejunostomy or total pancreatectomy with islet autotransplantation (TPIAT) may be considered. Genetic counseling is recommended for affected families. There is currently no cure or disease-modifying therapy available.

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