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Genetics Home Reference: your guide to understanding genetic conditions
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Hereditary pancreatitis

Reviewed October 2012

What is hereditary pancreatitis?

Hereditary pancreatitis is a genetic condition characterized by recurrent episodes of inflammation of the pancreas (pancreatitis). The pancreas produces enzymes that help digest food, and it also produces insulin, a hormone that controls blood sugar levels in the body. Episodes of pancreatitis can lead to permanent tissue damage and loss of pancreatic function.

Signs and symptoms of this condition usually begin in late childhood with an episode of acute pancreatitis. A sudden (acute) attack can cause abdominal pain, fever, nausea, or vomiting. An episode typically lasts from one to three days, although some people may experience severe episodes that last longer. Hereditary pancreatitis progresses to recurrent acute pancreatitis with multiple episodes of acute pancreatitis that recur over a period of at least a year; the number of episodes a person experiences varies. Recurrent acute pancreatitis leads to chronic pancreatitis, which occurs when the pancreas is persistently inflamed. Chronic pancreatitis usually develops by early adulthood in affected individuals. Signs and symptoms of chronic pancreatitis include occasional or frequent abdominal pain of varying severity, flatulence, and bloating. Many individuals with hereditary pancreatitis also develop abnormal calcium deposits in the pancreas (pancreatic calcifications) by early adulthood.

Years of inflammation damage the pancreas, causing the formation of scar tissue (fibrosis) in place of functioning pancreatic tissue. Pancreatic fibrosis leads to the loss of pancreatic function in many affected individuals. This loss of function can impair the production of digestive enzymes and disrupt normal digestion, leading to fatty stool (steatorrhea), weight loss, and protein and vitamin deficiencies. Because of a decrease in insulin production due to a loss of pancreatic function, about a quarter of individuals with hereditary pancreatitis will develop type 1 diabetes mellitus by mid-adulthood; the risk of developing diabetes increases with age.

Chronic pancreatic inflammation and damage to the pancreas increase the risk of developing pancreatic cancer. The risk is particularly high in people with hereditary pancreatitis who also smoke, use alcohol, have type 1 diabetes mellitus, or have a family history of cancer. In affected individuals who develop pancreatic cancer, it is typically diagnosed in mid-adulthood.

Complications from pancreatic cancer and type 1 diabetes mellitus are the most common causes of death in individuals with hereditary pancreatitis, although individuals with this condition are thought to have a normal life expectancy.

How common is hereditary pancreatitis?

Hereditary pancreatitis is thought to be a rare condition. In Europe, its prevalence is estimated to be 3 to 6 per million individuals.

What genes are related to hereditary pancreatitis?

Mutations in the PRSS1 gene cause most cases of hereditary pancreatitis. The PRSS1 gene provides instructions for making an enzyme called cationic trypsinogen. This enzyme is produced in the pancreas and helps with the digestion of food. When cationic trypsinogen is needed, it is released (secreted) from the pancreas and transported to the small intestine, where it is cut (cleaved) into its working or active form called trypsin. When digestion is complete and trypsin is no longer needed, the enzyme is broken down.

Some PRSS1 gene mutations that cause hereditary pancreatitis result in the production of a cationic trypsinogen enzyme that is prematurely converted to trypsin while it is still in the pancreas. Other mutations prevent trypsin from being broken down. These changes result in elevated levels of trypsin in the pancreas. Trypsin activity in the pancreas can damage pancreatic tissue and can also trigger an immune response, causing inflammation in the pancreas.

It is estimated that 65 to 80 percent of people with hereditary pancreatitis have mutations in the PRSS1 gene. The remaining cases are caused by mutations in other genes, some of which have not been identified.

Related Gene(s)

Changes in these genes are associated with hereditary pancreatitis.

  • CFTR
  • CTRC
  • PRSS1
  • SPINK1

How do people inherit hereditary pancreatitis?

When hereditary pancreatitis is caused by mutations in the PRSS1 gene, it is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the PRSS1 gene mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family.

It is estimated that 20 percent of people who have the altered PRSS1 gene never have an episode of pancreatitis. (This situation is known as reduced penetrance.) It is unclear why some people with a mutated gene never develop signs and symptoms of the disease.

Where can I find information about diagnosis or management of hereditary pancreatitis?

These resources address the diagnosis or management of hereditary pancreatitis and may include treatment providers.

  • Encyclopedia: Chronic Pancreatitis (http://www.nlm.nih.gov/medlineplus/ency/article/000221.htm)
  • Gene Review: Pancreatitis Overview (http://www.ncbi.nlm.nih.gov/books/NBK190101/)
  • Gene Review: PRSS1-Related Hereditary Pancreatitis (http://www.ncbi.nlm.nih.gov/books/NBK84399/)
  • Genetic Testing Registry: Hereditary pancreatitis (http://www.ncbi.nlm.nih.gov/gtr/conditions/C0238339)
  • Johns Hopkins Medicine: Treatment Options for Pancreatitis (http://www.hopkinsmedicine.org/transplant/news_events/media/transcripts/auto_islet/pacreatitis_treatment.html)
  • Lab Tests Online: Pancreatic Cancer (http://labtestsonline.org/understanding/conditions/pancreatic-cancer/)
  • Lab Tests Online: Pancreatitis (http://labtestsonline.org/understanding/conditions/pancreatitis/)
  • MD Anderson Cancer Center: Pancreatic Cancer Diagnosis (http://www.mdanderson.org/patient-and-cancer-information/cancer-information/cancer-types/pancreatic-cancer/diagnosis/index.html)
  • MedlinePlus Encyclopedia: Acute Pancreatitis (http://www.nlm.nih.gov/medlineplus/ency/article/000287.htm)
  • MedlinePlus Encyclopedia: Chronic Pancreatitis (http://www.nlm.nih.gov/medlineplus/ency/article/000221.htm)

You might also find information on the diagnosis or management of hereditary pancreatitis in Educational resources (http://www.ghr.nlm.nih.gov/condition/hereditary-pancreatitis/show/Educational+resources) and Patient support (http://www.ghr.nlm.nih.gov/condition/hereditary-pancreatitis/show/Patient+support).

General information about the diagnosis (http://ghr.nlm.nih.gov/handbook/consult/diagnosis) and management (http://ghr.nlm.nih.gov/handbook/consult/treatment) of genetic conditions is available in the Handbook. Read more about genetic testing (http://ghr.nlm.nih.gov/handbook/testing), particularly the difference between clinical tests and research tests (http://ghr.nlm.nih.gov/handbook/testing/researchtesting).

To locate a healthcare provider, see How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

Where can I find additional information about hereditary pancreatitis?

You may find the following resources about hereditary pancreatitis helpful. These materials are written for the general public.

You may also be interested in these resources, which are designed for healthcare professionals and researchers.

What other names do people use for hereditary pancreatitis?

  • autosomal dominant hereditary pancreatitis
  • familial pancreatitis
  • hereditary chronic pancreatitis
  • HP

For more information about naming genetic conditions, see the Genetics Home Reference Condition Naming Guidelines (http://ghr.nlm.nih.gov/ConditionNameGuide) and How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What if I still have specific questions about hereditary pancreatitis?

Ask the Genetic and Rare Diseases Information Center (http://rarediseases.info.nih.gov/GARD/).

What glossary definitions help with understanding hereditary pancreatitis?

acute ; autosomal ; autosomal dominant ; calcium ; cancer ; cell ; chronic ; diabetes ; diabetes mellitus ; digestion ; digestive ; enzyme ; familial ; family history ; fatty stool ; fever ; fibrosis ; gene ; hereditary ; hormone ; immune response ; inflammation ; inherited ; insulin ; intestine ; mutation ; pancreas ; pancreatic ; pancreatitis ; penetrance ; prevalence ; protein ; steatorrhea ; stool ; tissue ; trypsin

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • Greer JB, Whitcomb DC. Inflammation and pancreatic cancer: an evidence-based review. Curr Opin Pharmacol. 2009 Aug;9(4):411-8. doi: 10.1016/j.coph.2009.06.011. Epub 2009 Jul 7. Review. (http://www.ncbi.nlm.nih.gov/pubmed/19589727?dopt=Abstract)
  • Howes N, Lerch MM, Greenhalf W, Stocken DD, Ellis I, Simon P, Truninger K, Ammann R, Cavallini G, Charnley RM, Uomo G, Delhaye M, Spicak J, Drumm B, Jansen J, Mountford R, Whitcomb DC, Neoptolemos JP; European Registry of Hereditary Pancreatitis and Pancreatic Cancer (EUROPAC). Clinical and genetic characteristics of hereditary pancreatitis in Europe. Clin Gastroenterol Hepatol. 2004 Mar;2(3):252-61. (http://www.ncbi.nlm.nih.gov/pubmed/15017610?dopt=Abstract)
  • Joergensen MT, Brusgaard K, Crüger DG, Gerdes AM, Schaffalitzky de Muckadell OB. Genetic, epidemiological, and clinical aspects of hereditary pancreatitis: a population-based cohort study in Denmark. Am J Gastroenterol. 2010 Aug;105(8):1876-83. doi: 10.1038/ajg.2010.193. Epub 2010 May 25. (http://www.ncbi.nlm.nih.gov/pubmed/20502448?dopt=Abstract)
  • Keiles S, Kammesheidt A. Identification of CFTR, PRSS1, and SPINK1 mutations in 381 patients with pancreatitis. Pancreas. 2006 Oct;33(3):221-7. (http://www.ncbi.nlm.nih.gov/pubmed/17003641?dopt=Abstract)
  • Lal A, Lal DR. Hereditary pancreatitis. Pediatr Surg Int. 2010 Dec;26(12):1193-9. doi: 10.1007/s00383-010-2684-4. Epub 2010 Aug 10. (http://www.ncbi.nlm.nih.gov/pubmed/20697897?dopt=Abstract)
  • Rebours V, Boutron-Ruault MC, Schnee M, Férec C, Le Maréchal C, Hentic O, Maire F, Hammel P, Ruszniewski P, Lévy P. The natural history of hereditary pancreatitis: a national series. Gut. 2009 Jan;58(1):97-103. doi: 10.1136/gut.2008.149179. Epub 2008 Aug 28. (http://www.ncbi.nlm.nih.gov/pubmed/18755888?dopt=Abstract)
  • Rebours V, Boutron-Ruault MC, Schnee M, Férec C, Maire F, Hammel P, Ruszniewski P, Lévy P. Risk of pancreatic adenocarcinoma in patients with hereditary pancreatitis: a national exhaustive series. Am J Gastroenterol. 2008 Jan;103(1):111-9. doi: 10.1111/j.1572-0241.2007.01597.x. (http://www.ncbi.nlm.nih.gov/pubmed/18184119?dopt=Abstract)
  • Rebours V, Lévy P, Ruszniewski P. An overview of hereditary pancreatitis. Dig Liver Dis. 2012 Jan;44(1):8-15. doi: 10.1016/j.dld.2011.08.003. Epub 2011 Sep 9. Review. (http://www.ncbi.nlm.nih.gov/pubmed/21907651?dopt=Abstract)
  • Solomon S, Whitcomb DC. Genetics of pancreatitis: an update for clinicians and genetic counselors. Curr Gastroenterol Rep. 2012 Apr;14(2):112-7. doi: 10.1007/s11894-012-0240-1. Review. (http://www.ncbi.nlm.nih.gov/pubmed/22314809?dopt=Abstract)
  • Whitcomb DC, Gorry MC, Preston RA, Furey W, Sossenheimer MJ, Ulrich CD, Martin SP, Gates LK Jr, Amann ST, Toskes PP, Liddle R, McGrath K, Uomo G, Post JC, Ehrlich GD. Hereditary pancreatitis is caused by a mutation in the cationic trypsinogen gene. Nat Genet. 1996 Oct;14(2):141-5. (http://www.ncbi.nlm.nih.gov/pubmed/8841182?dopt=Abstract)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: October 2012
Published: July 21, 2014