Hereditary Pancreatitis

What is hereditary pancreatitis?

Hereditary pancreatitis is a rare, genetic abnormality that can either be inherited or occur spontaneously. Fewer than one in one million people are affected by this condition.

A family that has inherited hereditary pancreatitis has a mutation in a specific gene which contains the "blueprint" for creating an enzyme in the pancreas that, when needed to digest food, is secreted into the doudenum.

What are the symptoms of hereditary pancreatitis?

The first symptoms of hereditary pancreatitis usually occur in children or early adults. Symptoms may include:

These symptoms are acute, meaning they occur suddenly, and may last for several days. Later in life, these acute episodes begin to recur, meaning they begin to happen more frequently. This begins the development of chronic pancreatitis, in which the pancreas is continually in stress from inflammation.

How is hereditary pancreatitis diagnosed?

If there is a family history of chronic or acute pancreatitis, yet no cause for either condition can be determined, genetic testing may be performed to look for a mutation in the specific gene known as PRSS1. This gene has been found in a large percentage of people whom have pancreatitis.

What is the treatment for hereditary pancreatitis?

The most fundamental treatments that a patient can do for pancreatitis are:

  • alcohol cessation — alcohol is a known risk factor in the development of pancreatitis
  • smoking cessation — tobacco products are a known risk factor for many conditions
  • diet — obesity and high fat foods need to be controlled

Other treatment methods may also include:

  • pain medications
  • enzyme replacement therapy

Procedural or surgical options for chronic pancreatitis may include:

  • ERCP — a procedure that can remove stones from the biliary tract
  • pancreatectomy — a surgical removal of all or part of the pancreas
  • autologous islet cell transplantation — the infusion of a patient's own pancreatic islet cells into the liver's portal vein where they can begin producing insulin

MUSC is a recognized National Pancreas Foundation (NPF) center.