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Hereditary pancreatitis has recently emerged as an important pancreatic disease. Although relatively rare, this genetic disorder has provided major breakthroughs in our understanding of acute and chronic pancreatitis and pancreatic cancer. Furthermore, study of this disorder promises additional insights into the pathophysiology of human pancreatitis, new strategies for developing animal models of disease, and new therapies to treat or prevent acute and chronic pancreatitis. A review of recent findings and mechanisms of disease should benefit scientists who study the pancreas and physicians who care for individuals with pancreatitis. This report will focus on acute and chronic pancreatitis.
Clinical features
The first family with hereditary pancreatitis was described by Comfort and Steinberg in 1952.1 Careful evaluation of four definite and two probably affected family members revealed an autosomal dominant inheritance pattern, onset of symptoms between five and 23 years, but no other “. . .earmarks which distinguish it from non-hereditary chronic relapsing pancreatitis”. These observations remain accurate with the caveat that penetrance, the fraction of patients with the mutation that eventually express the disease, is 80%.2-6 Attacks of acute pancreatitis usually begin in childhood,7 but age of onset can range from infancy to the fifth or sixth decade of life. The acute attacks may vary from mild abdominal discomfort to severe life-threatening episodes with pancreatic necrosis, splenic vein thrombosis,8 pseudocysts,9 and death.3 ,10 Chronic pancreatitis follows recurrent attacks of acute pancreatitis with all of its common complications—unrelenting pain, parenchymal and ductal calcifications, duct distortion, fibrosis, maldigestion and diabetes mellitus.3-6 ,10 ,11 These features make hereditary pancreatitis indistinguishable from other causes of acute and chronic pancreatitis, save the relatively early age of onset, the autosomal dominant inheritance pattern and lack of other identifiable aetiologies.
Identification of mutations in the cationic trypsinogen gene
Many investigators pursued the aetiology of hereditary pancreatitis via access …
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