Hereditary pancreatitis
Hereditary pancreatitis is a genetic disorder characterized by recurrent episodes of acute pancreatitis that can progress to chronic pancreatitis. Symptoms often begin in childhood, typically between the ages of ten and fourteen. The condition is primarily caused by mutations in the PRSS1 gene, which leads to an excess of trypsin, an enzyme that can damage the pancreas through a process called autodigestion. Individuals with hereditary pancreatitis have a significantly increased risk (40 percent higher) of developing pancreatic cancer.
Family history is a key risk factor, with each child of an affected parent having a 50 percent chance of inheriting the condition. Common symptoms include abdominal pain, nausea, vomiting, malnutrition, and diabetes. Diagnosis generally involves imaging studies, family history assessment, and genetic testing. Treatment focuses on managing symptoms through pancreatic enzyme supplements, insulin for diabetes, and pain management, with surgical options sometimes necessary for complications. While hereditary pancreatitis cannot be prevented, avoiding smoking and alcohol can help mitigate risks, particularly for pancreatic cancer.
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Hereditary pancreatitis
ALSO KNOWN AS: HP, autosomal dominant hereditary pancreatitis, familial pancreatitis, hereditary chronic pancreatitis
RELATED CONDITIONS: Diabetes mellitus, malabsorption, pancreatic cancer
DEFINITION: Hereditary pancreatitis is an inherited disease characterized by recurrent acute (short and severe) episodes of pancreatitis (inflammation of the pancreas) that often progress to chronic (persistent) pancreatitis. Most people develop symptoms in childhood, with the median age of onset being ten to fourteen years. A person with hereditary pancreatitis has a 40 percent higher chance of developing pancreatic cancer.
Risk factors: Because hereditary pancreatitis is inherited, the main is having a family history of this disease. Each child born to a person with hereditary pancreatitis has a 50 percent chance of inheriting the disease. Alcohol may worsen pain and other symptoms, and smoking increases the risk of developing pancreatic cancer.
Etiology and the disease process: The underlying genetic cause of most cases of hereditary pancreatitis is a mutation, or a genetic change, in the PRSS1 gene. Normally, the protein made by PRSS1 called cationic trypsinogen changes into trypsin—an enzyme that helps digest protein. In people with hereditary pancreatitis, an excess of trypsin damages the pancreas by autodigestion (the trypsin destroys pancreas cells). Mutations in the genes SPINK1 and CFTR also play a role in hereditary pancreatitis. The process by which pancreatitis causes pancreatic cancer is not well understood.
Each person usually has two normal copies of the PRSS1 gene. A mutation in one gene copy is sufficient to cause hereditary pancreatitis. A person with hereditary pancreatitis has a PRSS1 gene mutation from conception. About 20 percent of Americans with a PRSS1 mutation do not develop pancreatitis.
Incidence: Hereditary pancreatitis affects a small number of people. Changes in inherited genes account for up to 10 percent of pancreatitis cases that lead to cancer, called necrotizing pancreatitis, and between 65 and 80 percent of people with hereditary pancreatitis have a mutation in their PRSS1 gene.
Symptoms: Symptoms include abdominal pain, nausea and vomiting, malnutrition (not getting enough nutrients from food), diabetes mellitus, rapid heart rate, fever, upper abdominal swelling, and fluid in the abdomen.
Screening and diagnosis: Generally, imaging studies of the pancreas, a detailed family history, and blood tests help diagnose this disease. Because mutations in the PRSS1 gene cause most cases of hereditary pancreatitis, genetic testing may assist in confirming a suspected diagnosis.
Treatment and therapy: The main focus of treatment is to reduce the symptoms by giving pancreatic enzyme supplements to treat malnutrition, insulin to treat diabetes, and medication to treat pain. Occasionally, surgery to remove part or all of the pancreas is performed to treat complications. Treatment for pancreatic cancer may include surgery, radiation therapy, and chemotherapy.
Prognosis, prevention, and outcomes: Hereditary pancreatitis is a genetic condition that cannot be prevented. To reduce the risk of pancreatic cancer and to prevent the worsening of pancreatitis, the patient should avoid smoking and alcohol. Imaging of the pancreas may help detect cancer early. The medical team caring for the patient decides the age at which to begin monitoring.
Bibliography
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