Hereditary pancreatitis

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Hereditary pancreatitis
OMIM	167800
DiseasesDB	30026

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Overview

Hereditary Pancreatitis is a genetic disease affecting enzyme production in the pancreas. In the pancreas, a genetic mutation causes the enzyme trypsinogen to be made in a way which renders it resistant to inactivation through autolysis. Normally this autolysis mechanism prevents trypsinogen from being activated within the pancreas. However, when the abnormal trypsinogen is activated, it causes a chain reaction where all the trypsinogen in the pancreas is activated, effectively digesting the pancreas from the inside.

Symptoms and Treatment

Symptoms are generally the same as acute pancreatitis, including severe abdominal pain, vomiting, and diarrhea. There is no treatment for the disease, although complications such as malnutrition can be treated with supplimentary pancreatic enzymes.

Most estimates place the number of individuals with hereditary pancreatitis in the United States at 1000.

References

• Whitcomb D (1999). "Hereditary pancreatitis: new insights into acute and chronic pancreatitis". Gut. 45 (3): 317–22. PMID 10446089.

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