- 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. Hereditary pancreatitis is an inherited form of pancreatitis characterized by recurrent episodes of painful pancreatitis starting at an early age. In most patients, the recurrent attacks will eventually progress to chronic pancreatitis. Frequently, other family members have pancreatitis.
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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.
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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 pancreatitis may not carry any of the known mutations, scientists believe that other genes and mutations may also be linked to familial pancreatitis.
Not every family member who has the mutation will develop the disease. Some people who have the mutation and pancreatitis are at a higher risk of developing pancreatic cancer, and therefore should consult a pancreatic specialist for assessment. » Learn about early detection of pancreatic cancer
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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. Once pancreatitis is established, a final diagnosis of hereditary pancreatitis is made when the genetic mutation PRSS1 is found.
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. We recommend that you meet with our genetic counselor prior to obtaining a genetic test. This consultation will help you understand the implications of having a positive test result.
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Q. How is hereditary pancreatitis treated?
A. Currently, there is no cure for genetic diseases. Our physicians tailor treatments for hereditary pancreatitis according to 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 assuring optimal nutrition. Frequently, pancreatic enzyme replacement is indicated. Our pain medicine specialists can offer a wide range of pain management solutions 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 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, clinical pancreatologists and islet isolation laboratory specialists who are renowned for their expertise in performing complex pancreatic operations, separating insulin-producing cells and for providing long-term outpatient care. 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.
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Q. What is the outlook for people who have hereditary pancreatitis?
A. Because hereditary pancreatitis is a chronic, progressive 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 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 has 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 early detection of pancreatic cancer
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