Rare Pediatrics News

Disease Profile

Hereditary pancreatitis

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

1-9 / 1 000 000

US Estimated

Europe Estimated

Age of onset

Childhood

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ICD-10

K86.1

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Hereditary chronic pancreatitis

Categories

Congenital and Genetic Diseases; Digestive Diseases; Endocrine Diseases;

Summary

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. People with hereditary pancreatitis develop chronic pancreatitis, a constantly inflamed pancreas. This leads to symptoms which may include fatty stools, weight loss, and poor absorption of nutrients from food. Adults with hereditary pancreatitis are at an increased risk for type 1 diabetes and pancreatic cancer. In most cases, hereditary pancreatitis is due to a PRSS1 gene that is not working correctly and is inherited in an autosomal dominant pattern. Diagnosis is based on the symptoms, a clinical history and exam, and the results of genetic testing. Treatment is focused on managing the symptoms and may include medications, surgery, and surveillance for diabetes and cancer.[1][2][3]

Symptoms

The following list includes the most common signs and symptoms in people with hereditary pancreatitis. These features may be different from person to person. Some people may have more symptoms than others, and symptoms can range from mild to severe. This list does not include every symptom or feature that has been described in this condition.

Symptoms may include:[1][2]

  • Stomach pain
  • Nausea and vomiting
  • Poor absorption of nutrients
  • Weight loss
  • Diarrhea

People with hereditary pancreatitis usually develop episodes of inflammation of the pancreas (pancreatitis) in childhood. Over time, inflammation becomes constant (chronic pancreatitis) leading to damage. Adults with this condition are at an increased risk to develop diabetes and pancreatic cancer.[4][5]

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Abdominal pain
Pain in stomach
Stomach pain

[ more ]

 0002027
Elevated C-reactive protein level
0011227
Leukocytosis
Elevated white blood count
High white blood count
Increased blood leukocyte number

[ more ]

 0001974
Recurrent pancreatitis
Recurring pancreas inflammation
0100027
30%-79% of people have these symptoms
Abnormal enzyme/coenzyme activity
0012379
5%-29% of people have these symptoms
Diabetes mellitus
0000819
Jaundice
Yellow skin
Yellowing of the skin

[ more ]

 0000952
Pancreatic calcification
0005213
Splanchnic vein thrombosis
0030247
Percent of people who have these symptoms is not available through HPO
Abnormal thrombosis
Abnormal blood clot
0001977
Autosomal dominant inheritance
0000006
Exocrine pancreatic insufficiency
Inability to properly digest food due to lack of pancreatic digestive enzymes
0001738
Fever
0001945
Pancreatic pseudocyst
0005206
Pancreatitis
Pancreatic inflammation
0001733
Pleural effusion
Fluid around lungs
0002202
Steatorrhea
Fat in feces
0002570

Cause

Most cases of hereditary pancreatitis are due to a PRSS1 gene not working correctly. DNA changes known as pathogenic variants are responsible for making genes work incorrectly or sometimes, not at all. In some cases, hereditary pancreatitis may be related to specific DNA variations in the SPINK1 or CTRC genes. In addition, variations in the CFTR gene are usually related to a disease known as cystic fibrosis, but specific variations can lead to hereditary pancreatitis without other symptoms.[2][3]

Diagnosis

Hereditary pancreatitis is diagnosed based on the symptoms, a clinical exam and history. The diagnosis can be confirmed by the results of genetic testing.[1][2]

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

    Treatment

    Treatment for hereditary pancreatitis is focused on managing the symptoms. Treatment options may include medications for the pain and pancreatic enzymes to aid digestion. Surgery is necessary in some cases to remove blockage of the pancreatic duct. For severe cases, the pancreas may be removed. Treatment may also include screening for diabetes and pancreatic cancer.[1][2][5]

    Organizations

    Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

    Organizations Supporting this Disease

      Learn more

      These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

      Where to Start

        In-Depth Information

        • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
        • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
        • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
        • PubMed is a searchable database of medical literature and lists journal articles that discuss Hereditary pancreatitis. Click on the link to view a sample search on this topic.

          References

          1. Shelton C, Solomon S, LaRusch J, Whitcomb DC. PRSS1-Related Hereditary Pancreatitis. GeneReviews. Updated Apr 25, 2019; https://www.ncbi.nlm.nih.gov/books/NBK84399.
          2. Paphael KL, Willingham FF. Hereditary pancreatitis: current perspectives. Clin Exp Gastroenterol. 2016; 9:197-207. https://pubmed.ncbi.nlm.nih.gov/27555793.
          3. Hasan A, Moscoso DI, Katrinos F. The Role of Genetics in Pancreatitis. Gastrointest Endosc Clin N Am. 2018; 28(4):587-603. https://pubmed.ncbi.nlm.nih.gov/30241646.
          4. Ramalho GX, Dytz MG. Diabetes of the Exocrine Pancreas Related to Hereditary Pancreatitis, an Update. Curr Diab Rep. 2020; 20(6):16. https://pubmed.ncbi.nlm.nih.gov/32221727.
          5. Shelton CA, Umapathy C, Stello K, Yadav D, Whitcomb DC. Hereditary pancreatitis in the United States: Survival and rates of pancreatic cancer. Am J Gastroenterol. 2018; 113(9):1376. https://pubmed.ncbi.nlm.nih.gov/30018304.

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