Hereditary pancreatitis (HP) is a condition associated with recurrent pancreatitis, which is inflammation of the pancreas, and an increased risk of pancreatic cancer. Cancer begins when normal cells begin to change and grow uncontrollably, forming a mass called a tumor.
A tumor can be benign, meaning noncancerous, or malignant, meaning cancerous. When a tumor is malignant, it can spread to other parts of the body.
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.
In people with HP, the first episode of pancreatitis usually occurs in childhood. However, the age when symptoms start and the severity can vary widely among people with HP, even within the same family.
What are the symptoms of hereditary pancreatitis?
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.
What causes HP?
HP is a genetic condition. This means that the risk of pancreatitis and pancreatic cancer can be passed from generation to generation in a family
. The gene associated with HP is called PRSS1. A mutation (alteration) in the PRSS1 gene gives a person an increased risk of pancreatitis and pancreatic cancer.
Mutations in two other genes, called SPINK1 and CFTR, have also been linked to HP; however, it is unknown if mutations in these genes cause an increased risk of pancreatic cancer. Researchers believe that other genes may be associated with HP, and studies are ongoing to learn more about this condition.
How is HP inherited?
Normally, every cell has two copies of each gene: one inherited from the mother and one inherited from the father. HP follows an autosomal dominant inheritance pattern, in which a mutation needs to happen in only one copy of the gene for the person to have an increased risk of getting that disease.
This means that a parent with a gene mutation may pass along a copy of their normal gene or a copy of the gene with the mutation.
Therefore, a child who has a parent with a mutation has a 50% chance of inheriting that mutation. A brother, sister, or parent of a person who has a mutation also has a 50% chance of having the same mutation.
Options exist for couples interested in having a child when they know that one of them carries a gene mutation that increases the risk for this hereditary cancer syndrome. Preimplantation genetic diagnosis (PGD) is a medical procedure done in conjunction with in-vitro fertilization (IVF).
It allows people who carry a specific known genetic mutation to have children who do not carry the mutation. A woman’s eggs are removed and fertilized in a laboratory.
When the embryos reach a certain size, one cell is removed and is tested for the hereditary condition in question. The parents can then choose to transfer embryos which do not have the mutation.
PGD has been in use for over a decade, and more recently has been used for several hereditary cancer predisposition syndromes. However, this is a complex procedure with financial, physical, and emotional factors for couples to consider before starting. For more information, talk with an assisted reproduction specialist at a fertility clinic.
How common is HP?
The specific incidence of HP is unknown. HP is estimated to account for about 3% to 6% of all pancreatitis cases.
How is HP diagnosed?
The diagnosis of HP is considered when two or more close family members, meaning parents, siblings, or children, in at least two generations have recurrent pancreatitis. Genetic testing is available for mutations in the PRSS1, SPINK1, and CFTR genes for people who may have HP.
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.
What are the estimated cancer risks associated with HP?
The risk of pancreatic cancer in people with HP has been estimated to be up to 40%.
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.
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.
What are the screening options for HP?
Screening for pancreatic cancer is suggested for people known to have HP. However, the effectiveness of current screening techniques for the early diagnosis of pancreatic cancer is not proven. Available screening options include:
Magnetic resonance imaging (MRI) or computed tomography (CT or CAT) scan of the pancreas
Endoscopic ultrasound, which is a thin, lighted tube guided into the esophagus through the mouth, and a transducer sends out sound waves that can identify if a tumor is present.
Endoscopic retrograde cholangiopancreatography (ERCP). An endoscope is passed into the small intestine through the mouth and stomach. A catheter (smaller tube) is passed through the endoscope and into the bile ducts and pancreatic ducts to look for cancer.
Blood test for CA19-9 level. This test aims to detect a protein found to be elevated in the blood of some people with pancreatic cancer.
Screening options may change over time as new technologies are developed and more is learned about HP. It is important to talk with your doctor about appropriate screening tests.
Learn more about what to expect when having common tests, procedures, and scans.
Questions to ask the doctor
If you are concerned about your risk of pancreatic cancer, talk with your doctor. Consider asking the following questions of your doctor:
- What is my risk of developing pancreatic cancer?
- What can I do to reduce my risk of cancer?
- What are my options for cancer screening?
If you are concerned about your family history and think you or other family members may have HP, consider asking the following questions:
- Does my family history increase my risk of developing pancreatic cancer?
- Should I meet with a genetic counselor?
- Should I consider genetic testing?