Spotlight On

Hereditary Pancreatitis

Hereditary pancreatitis causes multiple episodes of inflammation of the pancreas (pancreatitis), an important digestive organ. Symptoms usually begin in childhood and may last a few days or longer. Signs and symptoms may include stomach pain, nausea, or vomiting

Prevalence

1-9 / 1 000 000

331-2,979

US Estimated

513-4,622

Europe Estimated

Age of Onset

Childhood

ICD-10

K86.1

Inheritance Pattern

Autosomal dominant

5 Facts you should know

FACT

Hereditary pancreatitis is a rare, inherited cause of recurrent acute and chronic pancreatitis in children, most often presenting with abdominal pain, nausea, and vomiting before the age of 10

FACT

It is commonly associated with mutations in the PRSS1 gene, leading to premature activation of trypsinogen within the pancreas; other implicated genes include SPINK1, CFTR, and CTRC, which modify susceptibility and disease severity

FACT

Children with hereditary pancreatitis are at increased risk of developing chronic pancreatitis, pancreatic exocrine insufficiency, diabetes mellitus, and progressive structural changes in the pancreas

FACT

Long-term complications include a significantly elevated lifetime risk of pancreatic cancer, particularly in patients with PRSS1 mutations, necessitating careful surveillance into adulthood

FACT

Management is supportive and multidisciplinary, focusing on pain control, enzyme replacement for malabsorption, nutritional support, and consideration of endoscopic or surgical interventions for severe cases

Interest over time

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