SUMMARY

The majority of pancreatic diseases are associated with genetic polymorphisms. Recent breakthroughs in understanding the origin and pathways toward pancreatic diseases, and especially acute and chronic pancreatitis, reveal that specific variation in the genomic DNA sequence of individuals strongly influence their susceptibility to pancreatitis, the severity and nature of the inflammatory process, and the likelihood of various complications. Acute pancreatitis is an event, and chronic pancreatitis is a process. They are sequentially linked with chronic pancreatitis reflecting a pathophysiological response to acute pancreatitis events. The triggers, thresholds, mechanism of injury, and immunological responses of individuals with acute and chronic pancreatitis are being organised and defined. In the future, early use of genetic testing will likely play a critical role in early diagnosis and prognosis of pancreatic diseases, and could guide new and effective preventative and therapeutic interventions. The benefits and risk of limited genetic testing have been defined by consensus conference, while the framework for future and more extensive genetic evaluation is still developing.

INTRODUCTION

Diseases of the pancreas continue to be among the most mysterious and difficult of all human diseases to study. The pancreas is inaccessible to physical examination because of its retroperitoneal location, and remains invisible to standard radiographic examination because it lacks bony structure. Biopsies are also rarely done for fear of triggering acute pancreatitis, creating fistula, or initiating bleeding. These factors limited our understanding of pancreatic physiology and pathophysiology, limited early diagnosis, and precluded development of effective treatment for all major pancreatic diseases, until now.

Growing evidence suggests that most diseases of the pancreas have genetic predispositions and/or basis. This should not be surprising as the pancreas is an organ shielded from direct exposure to a hostile environment (unlike the skin, lungs, and digestive tract), and neither filters nor detoxifies most noxious agents (unlike the kidney …