Genetic Factors in Pancreatitis

Hereditary Pancreatitis

Hereditary pancreatitis is a rare, genetically inherited disorder that causes recurrent episodes of acute pancreatitis. Symptoms include episodes of abdominal pain, nausea, and vomiting. Over time patients lose endocrine function, leading to diabetes and nutritional deficiencies. Hereditary pancreatitis tends to have an earlier onset than alcohol-related chronic pancreatitis, although diabetes and malabsorption tend to occur later in life. A progressive disease, hereditary pancreatitis can develop into chronic pancreatitis. People with hereditary pancreatitis also have a 40% lifetime risk of developing pancreatic cancer.

In families where unexplained pancreatitis affects two or more first-degree relatives (or three or more second-degree relatives) in at least two generations, but a genetic mutation has not been identified, the condition is called familial rather than hereditary pancreatitis.

Relationship to cystic fibrosis

Cystic fibrosis (CF) is a genetic disease that causes mucus to build up in the lungs, digestive tract, and other parts of the body. In order to be born with CF, people must inherit a defective CF gene from both parents. Many people inherit a single mutation of a CF gene and never develop CF, and are called carriers. It is now known that carriers of the cystic fibrosis transmembrane conductance regulator (CF TR) gene — people who carry one defective gene but do not have cystic fibrosis — are at higher risk for developing pancreatitis.

Next Steps

If you or someone you care for is dealing with pancreatitis, the Pancreas Center is here for you. Whether you need a diagnosis, treatment, or a second opinion, we have a dedicated Pancreatitis Program ready to help.

Call us at (212) 305-9467 or use our online form to get in touch today.

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