Hereditary Pancreatitis

• What is hereditary pancreatitis?
• What are the symptoms of hereditary pancreatitis?
• What causes hereditary pancreatitis? What genes are involved?
• How is hereditary pancreatitis diagnosed?
• How is hereditary pancreatitis treated?
• What is the outlook for people who have hereditary pancreatitis?

Q. What is hereditary pancreatitis?
A. Pancreatitis is an inflammation of the pancreas. Hereditary pancreatitis is an inherited form of this condition marked by recurrent episodes of painful acute pancreatitis attacks that occur in multiple close relatives. In many cases, the recurrent attacks will eventually progress to chronic pancreatitis.

Q. What are the symptoms of hereditary pancreatitis?
A. People who have hereditary pancreatitis typically experience their first attack by the age of 20, but it can occur later in life. The most common symptom of hereditary pancreatitis is upper abdominal pain. Other symptoms include nausea, diarrhea, vomiting, malnutrition, and diabetes.

Q. What causes hereditary pancreatitis?
A. Hereditary pancreatitis is a genetic disorder, which means that it runs in families. Most people with hereditary pancreatitis have a mutation to the cationic tryspinogen gene, also called PRSS1. There are a few different types of known mutations of this gene that are linked to hereditary pancreatitis. However, because some families with a strong history of hereditary pancreatitis may not carry any of the known mutations, scientists believe that other genes and mutations may also be linked to hereditary pancreatitis.

Q. How is hereditary pancreatitis diagnosed?
A. In cases of hereditary pancreatitis, physicians use many of the same tests performed for acute and chronic pancreatitis, from testing blood for high levels of pancreatic enzymes to abdominal X-rays and ultrasound exams.

Your personal and family medical histories are an important part of the evaluation. If there is a strong family history of pancreatic disease, or no other cause for the pancreatitis can be found, the next step is to perform genetic tests. Genetic testing is done to determine if you have a specific mutation of a gene (cationic tryspinogen or PRSS1) that is linked to hereditary pancreatitis. A blood sample is all that's required to perform the test.

Q. How is hereditary pancreatitis treated?
A. Our physicians tailor treatments for hereditary pancreatitis according to your symptoms. Because patients with hereditary pancreatitis are at much higher risk of developing pancreatic cancer, it is vitally important to stop smoking, because tobacco use greatly increases this risk. People with hereditary pancreatitis are encouraged to stop drinking alcohol, as this substance can worsen pain and other symptoms.

Treatment typically includes measures geared at controlling pain and in providing pancreatic enzyme replacement to help the pancreas rest. Our pain medicine specialists can offer a wide range of pain management solutions--from pain-relieving medicine to powerful nerve blocks--to curb the pain associated with pancreatitis.

When these treatments are not enough, surgery may help to alleviate symptoms and improve pancreatic function. Sometimes the pain and other complications associated with hereditary pancreatitis require that part or all of the pancreas be removed. In the past, surgeons were hesitant to remove the pancreas because patients normally developed difficult-to-control "brittle" diabetes after surgery. The risk of diabetes posed problems that sometimes outweighed the benefits of pancreas resection. But today, the University of Chicago Medicine and a handful of other hospitals can offer autologous islet cell transplantation, a novel treatment that enables patients with pancreatitis to undergo pancreas resection to alleviate severe pain without the fear of developing brittle diabetes. This option is particularly attractive for patients with hereditary pancreatitis, because patients with this condition are otherwise at a much higher risk of developing pancreas cancer over time. Total pancreatectomy eliminates this risk. »Learn more about autologous islet cell transplantation at the University of Chicago

The University of Chicago Medicine is home to gastrointestinal surgeons who are renowned for their expertise in performing complex pancreatic operations. Studies show that patients who have had pancreatic resections by experienced surgeons at hospitals like the University of Chicago--where many such procedures are performed every year--fare better than people who have the same procedure at smaller hospitals with a lower volume of cases.

Q. What is the outlook for people who have hereditary pancreatitis?
A. Because hereditary pancreatitis is a chronic disease, patients may experience symptoms for several months or years. There is no cure. Yet it's important to know that if you have hereditary pancreatitis, there is a lot you and doctor can do to improve how you feel. Be sure to stop drinking alcohol and follow your physician's instructions for a diet that can alleviate some symptoms. Take your medications as prescribed to help reduce pain and encourage healing of the pancreas.

Hereditary pancreatitis and mutations to the PRSSI gene have been linked to an increased risk for pancreatic cancer. Therefore, it's important to talk with your physician about this risk and any screening measures for you or your family that may be appropriate to check for signs of pancreatic cancer. »Learn more about pancreatic cancer screening

More Information

• Acute Pancreatitis
• Chronic Pancreatitis
• Hereditary Pancreatitis
• Autologous Islet Cell Transplantation
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