Definition:
Hereditary pancreatitis is a genetic disease affecting the production of enzymes in the pancreas. In the pancreas, a genetic mutation causes the enzyme cationin trypsinogen to be made in a way which leaves it resistant to inactivation through autolysis. Normally this autolysis mechanism prevents trypsinogen from being activated inside the pancreas. However, when the abnormal trypsinogen is activated, it results to a chain reaction where all the trypsinogen in the pancreas is activated, effectively digesting the pancreas from the inside.
Diagnosis:
Aside from asking about a person's medical history and doing a physical exam, a doctor will order a blood test to diagnose acute pancreatitis. During acute attacks, the blood contains at least three times more amylase and lipase than the usual amount. Amylase and lipase are digestive enzymes produced in the pancreas. Changes may also arise in blood levels of glucose, calcium, magnesium, sodium, potassium, and bicarbonate. After the pancreas improves, these levels usually go back to normal.
Treatment:
There is no known treatment for the disease, although complications such as malnutrition can be treated with supplimentary pancreatic enzymes.
Symptoms and Signs:
Symptoms are typically the same as acute pancreatitis, including severe abdominal pain, vomiting, and diarrhea.
Causes:
Hereditary pancreatitis is a genetic disorder, meeaning it runs in families. Most people with hereditary pancreatitis have a mutation to the cationic tryspinogen gene, also known as PRSS1. There are a few different types of known mutations of this gene that are associated with hereditary pancreatitis
The information on this site is for research purposes only and can not substitute for the advice of a medical professional. Ailments.com is not run by doctors and does not engage in the practice of medicine. Our site is not a medical authority, it is just a research tool for you to use in preparation for consulting with a doctor. We can not guarantee our information is accurate or up to date. Even if a statement made about a medical condition is accurate, it may not apply to you or your symptoms, so you should always consult a doctor. Nothing on our site should be construed as an attempt to offer or render a medical opinion or otherwise engage in the practice of medicine.
