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Hereditary Pancreatitis

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Hereditary pancreatitis (HP) is a condition associated with recurrent pancreatitis (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 (noncancerous) or malignant (cancerous, meaning 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 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.

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 (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.

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%.

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