Hereditary pancreatitis
- Hereditary pancreatitis(HP) is a genetic condition characterized by recurrent episodes of inflammation of the pancreas (pancreatitis). The pancreas produces enzymes that help digest food, and it also produces insulin, a hormone that controls blood sugar levels in the body.
The first symptoms of hereditary pancreatitis usually occur in children or early adults. Symptoms may include:
- abdominal pain
- nausea
- vomiting
- fever
These symptoms are acute, meaning they occur suddenly, and may last for several days. Later in life, these acute episodes begin to recur, meaning they begin to happen more frequently. This begins the development of chronic pancreatitis, in which the pancreas is continually in stress from inflammation.
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 mutation (alteration) in the PRSS1 gene gives a person an increased risk of pancreatitis and pancreatic cancer. Mutations in other genes, including SPINK1, CTRC, CASR, and CFTR, have also been linked to HP.
In cases of hereditary pancreatitis, physicians use many of the same tests performed for acute and chronic pancreatitis such as blood tests (Amylase, Lipase), Ultrasound or CT Scan. Once pancreatitis is established, a final diagnosis of hereditary pancreatitis is made when the genetic mutation PRSS1 is found.
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.
The most fundamental treatments that a patient can do for pancreatitis are:
– alcohol cessation alcohol is a known risk factor in the development of pancreatitis
– smoking cessation tobacco products are a known risk factor for many conditions
– diet, obesity and high fat foods need to be controlled
Other treatment methods may also include:
- pain medications
- enzyme replacement therapy
- Endoscopic or surgical procedure to remove stricture or stone in chronic pancreatitis
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