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PRSS1-Related Hereditary Pancreatitis.

Source

GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2014.
2012 Mar 01.

Excerpt

DISEASE CHARACTERISTICS:

PRSS1-related hereditary pancreatitis (HP) is characterized by inflammation of the pancreas that progresses from acute (sudden onset; duration <6 months) to recurrent acute (>1 episode of acute pancreatitis) to chronic (duration >6 months). The range of symptoms and disease course vary from person to person. On average, acute pancreatitis occurs by age ten years and chronic pancreatitis by age 20 years. Manifestations of acute pancreatitis can range from vague abdominal pain lasting one to three days to severe abdominal pain lasting days to weeks and requiring hospitalization. Chronic pancreatitis typically manifests as episodic or continuous mild to severe abdominal pain, exocrine pancreatic insufficiency leading to maldigestion, and pancreatic endocrine insufficiency (glucose intolerance progressing to type I diabetes mellitus). The risk for pancreatic cancer increases after age 50 years.

DIAGNOSIS/TESTING:

Acute pancreatitis is the presence of two of the following three findings: Sudden onset of typical epigastric abdominal pain . Serum amylase or lipase greater than three times normal . Characteristic findings on abdominal imaging. In chronic pancreatitis irreversible pancreatic changes are documented by histology, abdominal imaging, and/or functional studies. Presence of a PRSS1 disease-causing mutation establishes the diagnosis of PRSS1-related HP.

MANAGEMENT:

Treatment of manifestations: Acute pancreatitis: prevention focuses on abstaining from smoking, drinking alcohol, exercising, and eating large fatty meals and on use of antioxidants; standard treatment of symptoms is fluid hydration, pain medication, and management of complications. Chronic pancreatitis: continue strategies to prevent acute attacks. Pancreatic enzyme replacement therapy to improve digestion in those with pancreatic insufficiency and pain with eating, steatorrhea, and/or diarrhea; treatment of diabetes mellitus type I in the usual manner with metformin being the drug of choice to address glucose intolerance and possibly reduce the rate of pancreatic cancer. Prevention of primary manifestations: Low-fat diet, multiple small meals, good hydration during exercise, antioxidants. Surveillance: Referral to a surveillance program that includes biomarker research and other new techniques. Agents/circumstances to avoid: Alcohol and tobacco use; dehydration; physical and emotional stress. Evaluation of relatives at risk: Molecular genetic testing for the family-specific germline PRSS1 mutation to allow early diagnosis and prevention and/or management of symptoms

GENETIC COUNSELING:

PRSS1-related HP is inherited in an autosomal dominant manner. The proportion of PRSS1-related HP caused by a de novo mutation is unknown. Each child of an individual with PRSS1-related HP has a 50% chance of inheriting the mutation. Prenatal diagnosis for pregnancies at increased risk is possible if the disease-causing mutation of an affected family member has been identified. Requests for prenatal testing for conditions such as PRSS1-related HP that do not affect intellect and have some treatment available are not common.

Copyright © 1993-2014, University of Washington, Seattle. All rights reserved.

PMID:
22379635
[PubMed]
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