Hereditary Pancreatitis

What is hereditary pancreatitis?

Hereditary pancreatitis (HP) is a condition associated with recurrent pancreatitis and an increased risk of pancreatic cancer . Recurrent pancreatitis is an inflammation of the pancreas that keeps coming back over time.

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 it can be malignant, meaning cancerous. When a tumor is malignant, it can spread to other parts of the body.

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 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 most commonly associated with HP is called PRSS1 . A change in the PRSS1 gene gives a person an increased risk of pancreatitis and pancreatic cancer. This change can also be called a mutation or alteration. Mutations in other genes, including SPINK1, CTRC, CASR, 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 2 copies of each gene: 1 inherited from the mother and 1 inherited from the father. HP caused by PRSS1 mutations follows an autosomal dominant inheritance pattern, in which a mutation needs to happen in only 1 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 sibling or parent of a person who has a mutation also has a 50% chance of having the same mutation. However, if the parents test negative for the mutation (meaning each person’s test results found no mutation), the risk to the siblings significantly decreases but their risk may still be higher than an average risk.

Options exist for people interested in having a child when a prospective parent 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 reduce the likelihood that their children will inherit the condition. A person's eggs are removed and fertilized in a laboratory. When the embryos reach a certain size, 1 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 2 decades and has been used for several hereditary cancer predisposition syndromes. However, this is a complex procedure with financial, physical, and emotional factors to consider before starting. For more information, talk with an assisted reproduction specialist at a fertility clinic.

How common is HP?

The specific prevalence of HP is unknown, but HP is thought to be rare.

How is HP diagnosed?

The diagnosis of HP is considered when 2 or more close family members, meaning parents, siblings, or children, in at least 2 generations have recurrent pancreatitis. Genetic testing is sometimes considered for people who develop recurrent pancreatitis at a young age. Genetic testing is available for mutations in the PRSS1, SPINK1 , CTRC , CASR , and CFTR genes. Talking with a genetic counselor is recommended before having genetic testing.

What are the estimated cancer risks associated with HP?

The lifetime risk of pancreatic cancer in people with HP has been estimated to be up to 40%. It is believed that chronic inflammation of the pancreas leads to this increased risk of pancreatic cancer. People with HP who also smoke are likely to have an even higher risk of pancreatic cancer .

Occasionally, people have been found to have mutations in PRSS1 without having any prior episodes of pancreatitis. Since these people do not have recurring inflammation of the pancreas, it is unclear if they also have an increased risk of pancreatic cancer.

What are the screening options for HP?

Screening for pancreatic cancer is suggested for people known to have HP beginning at age 40, 20 years after the onset of pancreatitis, or 10 years before the youngest pancreatic cancer diagnosis in the family, whichever is earliest. However, the effectiveness of current screening techniques for the early diagnosis of pancreatic cancer is not proven. The screening tests that are most commonly used include:

• Magnetic resonance imaging (MRI) – An MRI uses magnetic fields to produce detailed images of the pancreas .
• Endoscopic ultrasound (EUS) – A thin, lighted tube is passed through the patient's mouth and stomach. The tube goes down into the small intestine to take a picture of the pancreas.

Screening options may change over time as new technologies are developed and more is learned about HP. It is important to talk with your health care team about appropriate screening tests.

Learn more about what to expect when having common tests, procedures, and scans .

Questions to ask the health care team

If you are concerned about your risk of pancreatic cancer, talk with your health care team. It can be helpful to bring someone along to your appointments to take notes. Consider asking your health care team the following questions:

• 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?

• Does it suggest that I should get a cancer risk assessment?

• Will you refer me to a genetic counselor or other genetics specialist

• Should I consider genetic testing?