Pedigree chart for hereditary pancreatitis
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About Hereditary Pancreatitis

Hereditary pancreatitis (HP) is an inflammation of the pancreas that’s attributed to genetic causes. Specifically, genetic mutations in the PRSS1, SPINK1, CFTR and CTRC genes, as well as the calcium sensing receptor (CASR). The condition is characterized by continual episodes of pancreatitis. Being the organ that produces enzymes to help digest food, the pancreas also produces insulin, a vital hormone that controls blood sugar levels within the body. Due to the pancreas’ significant role within the body’s overall functioning, hereditary pancreatitis often leads to permanent tissue damage and loss of the organ’s capabilities.

Genetic mutations

Most cases of HP are due to mutations in the PRSS1 gene, which is vital for making an enzyme called cationic trypsinogen. Produced in the pancreas and involved with the body’s digestion of food, this enzyme is secreted from the pancreas when needed, and transported to the small intestine, where it is cut into its active form (trypsin). Once digestion is finished, and trypsin is no longer necessary, the enzyme breaks down. While some mutations cause the enzyme to convert into trypsin prematurely—while it’s still in the pancreas—other mutations prevent trypsin from being broken down altogether, spiking levels of trypsin within the pancreas.

Signs and symptoms

The condition usually stems from a patient’s childhood, sparking with an initial case of acute pancreatitis. This sudden episode often features symptoms such as fever, abdominal pain, vomiting and/or nausea, and generally lasts a couple of days. However, when acute pancreatitis reoccurs multiple times—often within a single year—chronic pancreatitis usually develops (meaning, the pancreas is persistently inflamed). Symptoms affiliated with chronic or hereditary pancreatitis involve frequent abdominal pain and bloating, as well as abnormal calcium deposits in the pancreas.

Long-term effects

As inflammation persists throughout a patient’s life, scar tissue (fibrosis) starts to replace functioning pancreatic tissue. As a result, pancreatic function may decrease, impairing the production of digestive enzymes (hindering digestion), and causing weight loss and protein deficiencies. Additionally, the risk for pancreatic cancer is increased, especially concerning patients who also smoke, consume alcohol, have type 1 diabetes, or share a family history of cancer.

Treatment options

Treatment for pancreatitis ranges from symptom management to pancreatic enzyme replacement, to surgery. Particular treatment plans and prescriptions will vary patient to patient.   Pancreatic enzyme supplements for can help digestion.   Insulin can help manage diabetes. Larger lifestyle changes around HP symptom management, such as dietary adjustments, include eating smaller meals and choosing high-carb, low-protein items. It’s strongly encouraged that patients dealing with HP not smoke or consume alcohol. Surgical intervention can be considered early in patients with a known genetic mutation.

Hereditary pancreatitis is a rare and complex disorder.  Contacting a expert in pancreatic surgery and pancreatitis is a good first step.

For additional information, check out the following posts.


What is hereditary acute pancreatitis?
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