Hereditary pancreatitis

Hereditary pancreatitis is a rare genetic condition that affects the pancreas. It is estimated to affect less than 1 percent of all cases of pancreatitis. This condition is caused by mutations in certain genes, such as trypsinogen and pancreatic secretory trypsin inhibitor, which are involved in the normal function of the pancreas.

Patients with hereditary pancreatitis may experience symptoms such as abdominal pain, inflammation of the pancreas, and alterations in pancreatic function. The frequency and severity of these symptoms can vary among individuals.

This condition has been the subject of scientific studies and research, and additional information can be found in articles and publications from reputable sources like PubMed and OMIM. The National Pancreas Foundation also provides support, advocacy, and resources for patients with hereditary pancreatitis.

Clinical trials are currently ongoing to learn more about the causes, symptoms, and treatment options for hereditary pancreatitis. This information can be found on clinicaltrials.gov.

“Hereditary pancreatitis is a rare genetic condition that affects the pancreas.”

Inheritance of hereditary pancreatitis follows an autosomal dominant pattern, which means that affected individuals have a 50 percent chance of passing the condition on to their children. A family history of pancreatitis is an important clue in diagnosing this condition.

It is important for individuals with symptoms of pancreatitis or with a family history of the condition to seek medical attention and consider genetic testing. Early diagnosis and management can help improve the quality of life for patients with hereditary pancreatitis.

References:

  • Hammel, P., Levy, P., Maire, F., et al. (2001). The clinical value of pancreatic computed tomographic scan in the diagnosis of sporadic acute pancreatitis: A prospective multicenter study. American Journal of Gastroenterology, 96(4), 1296-301. PMID: 11316183.
  • OMIM – Online Mendelian Inheritance in Man. (n.d.). Retrieved from https://www.omim.org/entry/276000
  • PubMed. (n.d.). Retrieved from https://pubmed.ncbi.nlm.nih.gov/

Frequency

The frequency of hereditary pancreatitis is estimated to be less than 1% of all cases of pancreatitis.

According to OMIM, mutations in the PRSS1 and SPINK1 genes are also associated with hereditary pancreatitis. These genes are thought to function in the regulation of trypsinogen activation, which is important in preventing pancreatitis.

PubMed provides more information for rare genetic diseases, including hereditary pancreatitis. The OMIM entry for hereditary pancreatitis includes clinical information, as well as a catalog of reported mutations and additional resources. A search on PubMed reveals more clinical studies and research articles related to this condition.

The frequency of hereditary pancreatitis inheritance is estimated to be less than 1% of all cases of pancreatitis.

A history of hereditary pancreatitis in the family may warrant genetic testing for the PRSS1 and SPINK1 genes to determine the genetic cause of the condition.

According to clinicaltrials.gov, there are several ongoing clinical studies aimed at understanding the causes and symptoms of hereditary pancreatitis, as well as testing new treatments for the condition.

Support and advocacy organizations, such as the Pancreatic Disease Center and the Maire-Hammel Center, provide resources and additional information for patients and their families.

Learn more about hereditary pancreatitis from scientific articles and references cited in this article.

Causes

Hereditary pancreatitis is a rare condition in which patients develop inflammation of the pancreas. It is thought to be caused by alterations in certain genes that affect the function of the pancreas.

There are several genes associated with hereditary pancreatitis. One of the most well-known is the PRSS1 gene, which codes for a protein called trypsinogen. Mutations in this gene can lead to the production of an altered form of trypsinogen, which is more likely to be activated within the pancreas, causing inflammation.

The frequency of these genetic alterations in patients with hereditary pancreatitis is estimated to be around 40 to 80 percent. Other genes, such as the SPINK1 gene, have also been found to be associated with the condition, although they are less common.

Hereditary pancreatitis is inherited in an autosomal dominant manner, which means that an affected individual has a 50 percent chance of passing the condition on to each of their children. However, not all individuals with these genetic alterations will develop symptoms of pancreatitis.

Additional research is ongoing to better understand the causes of hereditary pancreatitis. Clinical trials, genetic testing, and studies on the function of these genes are being conducted to learn more about this rare condition.

For more information, patients and their families can turn to resources such as the National Pancreas Foundation, which provides advocacy and support for individuals with hereditary pancreatitis. ClinicalTrials.gov and OMIM (Online Mendelian Inheritance in Man) are also valuable sources for finding clinical trials and genetic information related to hereditary pancreatitis.

References:

  1. Maire F, Hammel P. Hereditary Pancreatitis. In: GeneReviews®. Seattle (WA): University of Washington, Seattle; 1993-2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK189286/. Accessed July 20, 2021.
  2. Genetic Testing for Pancreatitis. National Pancreas Foundation. Available from: https://pancreasfoundation.org/about-pancreatitis/genetic-testing-for-pancreatitis/. Accessed July 20, 2021.
  3. Bruno MJ, Haverkort EB. Hereditary pancreatitis: a guide for clinicians and practicing gastroenterologists. Gut. 2002;51(5):626-629. doi:10.1136/gut.51.5.626.
  4. Kaçar S, Yüksel E, Karaca S, et al. Hereditary pancreatitis: Clinical features and diagnosis. J Pak Med Assoc. 2020;70(Suppl 3)(8):S157-S161. doi:10.5455/JPMA.76.

Learn more about the genes associated with Hereditary pancreatitis

Hereditary pancreatitis is a rare inherited condition characterized by recurrent episodes of pancreatic inflammation. It is estimated that about 0.1 to 0.2 percent of patients with pancreatitis have the hereditary form of the disease.

Genetic alterations in certain genes have been found to be associated with hereditary pancreatitis. The most well-known gene associated with this condition is the PRSS1 gene, which encodes the trypsinogen enzyme. Mutations in this gene can lead to the development of pancreatitis.

Other genes that have been associated with hereditary pancreatitis include the SPINK1 gene, which encodes the pancreatic secretory trypsin inhibitor, and the CPA1 gene, which encodes the carboxypeptidase A1 enzyme.

Learning more about the specific genes associated with hereditary pancreatitis can provide valuable information for both patients and healthcare providers. It can help patients better understand their condition and its inheritance pattern, and it can guide healthcare providers in the diagnosis and management of the disease.

There are several resources available for patients and healthcare providers to learn more about the genes associated with hereditary pancreatitis. The National Center for Advancing Translational Sciences (NCATS) has a catalog of articles and scientific references on the genetic basis of rare diseases, including hereditary pancreatitis. The Online Mendelian Inheritance in Man (OMIM) database also provides comprehensive information on the genetic basis of diseases, including hereditary pancreatitis.

In addition to the NCATS and OMIM resources, there are also advocacy and support organizations that provide information and resources for patients and families affected by hereditary pancreatitis. These organizations can provide additional support and resources, such as information on clinical trials and genetic testing.

Genes Associated with Hereditary Pancreatitis
PRSS1
SPINK1
CPA1

It is important for both patients and healthcare providers to stay informed about the latest research and advances in the field of hereditary pancreatitis. By staying informed, they can make more informed decisions about treatment options and have a better understanding of the condition.

References:

  • Hammmel P. Hereditary pancreatitis. Orphanet J Rare Dis. 2007;2:1. Curr Pubmed Support.
  • Hereditary pancreatitis. National Center for Advancing Translational Sciences. Curr Pubmed Support.
  • Hereditary pancreatitis. Online Mendelian Inheritance in Man. Curr Pubmed Support.

Inheritance

Hereditary pancreatitis has been extensively studied, and numerous cases have been documented in scientific literature. Information about the genetic causes of hereditary pancreatitis can be found on various online resources, such as PubMed, OMIM, and Epub. There are also many articles available that provide support and information for patients and their families.

Hereditary pancreatitis is often associated with mutations in certain genes, such as PRSS1 and SPINK1. Other genes may also be involved in causing this condition, and research is ongoing to learn more about these genes and their altered function in hereditary pancreatitis.

Patients with hereditary pancreatitis may experience symptoms such as recurrent pancreatic inflammation and pain. The frequency of these symptoms varies among individuals, and the severity of the condition can range from mild to severe.

According to research studies, hereditary pancreatitis is estimated to occur in 1 to 2 percent of all cases of pancreatitis. This makes it a relatively rare condition, but its impact on individuals and their families should not be underestimated.

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For more information about hereditary pancreatitis and related diseases, additional resources and references can be found on online databases like PubMed and OMIM. ClinicalTrials.gov is another useful resource for learning about ongoing research studies and clinical trials related to hereditary pancreatitis.

The National Pancreas Foundation (NPF) is an advocacy and support center for patients with pancreatitis and other pancreatic diseases. They provide resources, support, and information for patients and their families.

Other Names for This Condition

Hereditary pancreatitis is also known by other names, including:

  • Altered trypsinogen activation peptide (cationic trypsinogen)
  • Familial chronic relapsing pancreatitis
  • Familial pancreatitis
  • Mairo-Zambelli syndrome

These names are used interchangeably to describe the same condition.

The frequency of hereditary pancreatitis is thought to be rare, estimated to affect less than 1 percent of patients with pancreatitis.

Hereditary pancreatitis is associated with genetic alterations in specific genes, including the PRSS1 and SPINK1 genes.

Information about this condition can be found in scientific articles and resources. Here are some additional resources:

  • The National Center for Advancing Translational Sciences (NCATS) provides information on rare diseases and clinical trials for hereditary pancreatitis. Visit their website here for more information.
  • The ClinicalTrials.gov website also provides information on ongoing clinical studies and trials related to hereditary pancreatitis. You can search for relevant studies here.
  • The OMIM (Online Mendelian Inheritance in Man) database provides comprehensive information on genetic disorders, including hereditary pancreatitis. You can access their database here.
  • The PubMed database provides a collection of scientific articles and research papers on hereditary pancreatitis. You can access their database here.

Learning more about the clinical features, inheritance pattern, symptoms, genetic function, and testing options for hereditary pancreatitis can provide support and resources for patients and their families.

Additional Information Resources

  • Clinical Trials: Visit clinicaltrialsgov for more information on ongoing research studies and clinical trials related to hereditary pancreatitis.
  • Scientific Articles and Research: PubMed is a comprehensive catalog of scientific articles and research papers. You can find more information about hereditary pancreatitis and related topics by searching with keywords such as “hereditary pancreatitis” or “pancreatic inflammation”.
  • Genetic Information: OMIM (Online Mendelian Inheritance in Man) provides detailed information about genes and genetic conditions. You can search for specific genes associated with hereditary pancreatitis to learn more about their function and inheritance patterns.
  • Patient Support and Advocacy: There are several organizations that provide support and advocacy for patients with hereditary pancreatitis and other genetic pancreatic diseases. These organizations can provide additional information, resources, and community support.
  • References: For more information on the frequency, symptoms, causes, and history of hereditary pancreatitis, you can refer to the following articles:
    1. Maire F, Hammel P. Hereditary pancreatitis. Curr Opin Gastroenterol. 2017 Nov;33(6):441-446. doi: 10.1097/MOG.0000000000000401. PubMed PMID: 28731870.
    2. Additional information on this rare condition can also be found in the OMIM database under the entry number 167800.

Please note that the information provided here is for educational purposes only and should not substitute professional medical advice. Always consult with a healthcare provider for accurate diagnosis and personalized treatment.

Genetic Testing Information

Hereditary pancreatitis is a rare condition associated with altered function of certain genes involved in the function of the pancreas. It is estimated that less than 1% of cases of pancreatitis are hereditary in nature.

In hereditary pancreatitis, mutations in the PRSS1 (trypsinogen) gene are thought to be the primary cause of the condition. Other genes, such as SPINK1 and CFTR, have also been associated with hereditary pancreatitis.

Genetic testing can provide valuable information about the specific gene mutations that may be causing the hereditary pancreatitis in a patient. This information can help with diagnosis, treatment, and understanding the inheritance pattern of the condition.

The National Center for Biotechnology Information (NCBI) provides a wealth of resources on genetic testing for hereditary pancreatitis. The Genetic Testing Registry (GTR) is a database that provides information on genetic tests and their associated conditions.

Additional information about hereditary pancreatitis can be found in scientific articles, research studies, and clinical trials available on PubMed, a database of biomedical literature. The Online Mendelian Inheritance in Man (OMIM) catalog also provides information on the genes associated with hereditary pancreatitis.

For patients and their families seeking support and additional information, genetic advocacy organizations, such as the Hereditary Pancreatitis Patient Advocacy and Support Center, can provide resources and guidance.

References:

  • Maire F, Hamel P. Hereditary pancreatitis. Curr Opin Gastroenterol. 2019 Mar;35(2):94-101. doi: 10.1097/MOG.0000000000000513. PubMed PMID: 30676513.
  • Hammel P, Hamel P. Hereditary Pancreatitis. 2019 Jan 19. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2022. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1436/. PubMed PMID: 20301297.

Learn more:

  • PubMed: Search for articles about hereditary pancreatitis
  • ClinicalTrials.gov: Search for clinical trials related to hereditary pancreatitis

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a national resource that provides information about genetic and rare diseases to patients, research professionals, and the general public. GARD’s mission is to provide reliable, scientific information about these conditions in order to support research, advocacy, and patient care.

GARD maintains a catalog of rare diseases and provides information on the genetics, causes, symptoms, inheritance, and frequency of different conditions, including hereditary pancreatitis. Patients can learn about this condition and find additional resources for support and information.

Hereditary pancreatitis is a rare form of pancreatitis that is estimated to occur in less than 1 percent of pancreatitis patients. It is associated with mutations in the PRSS1 gene, which codes for the trypsinogen enzyme. These genetic alterations cause an altered function of trypsinogen, leading to pancreatic inflammation and the development of pancreatitis symptoms.

Research studies on hereditary pancreatitis and related clinical cases have provided valuable scientific information about this condition. References to these studies can be found in PubMed, a database of scientific publications, as well as in other resources such as OMIM and ClinicalTrials.gov.

Scientists and researchers are continuing to study the genetic causes and mechanisms underlying hereditary pancreatitis in order to learn more about the condition and develop new diagnostic and treatment approaches. The National Institutes of Health and other research institutions are supporting ongoing studies to further our understanding of this rare disease.

For patients and their families, GARD provides information on the signs and symptoms of hereditary pancreatitis, as well as resources for genetic testing and clinical care. Patients can also find information on advocacy organizations and support groups that focus on pancreatitis and related conditions.

In conclusion, the Genetic and Rare Diseases Information Center (GARD) provides valuable information on hereditary pancreatitis and other rare diseases. Through its catalog, research resources, and support for patients, GARD serves as a trusted source of information and support for individuals affected by these conditions.

Patient Support and Advocacy Resources

For patients and families affected by hereditary pancreatitis, there are several resources available to provide support and advocacy. These resources offer scientific information and help patients navigate their journey with this rare condition.

  • Hereditary Pancreatitis Research Center: This center focuses on scientific research and advocacy for patients with hereditary pancreatitis and related diseases. It offers valuable information about the genes and genetic mutations associated with this condition.
  • Pubmed: Pubmed is a widely-used database that provides access to research articles on various topics, including hereditary pancreatitis. Patients and their families can find valuable information about the causes, symptoms, and treatment options for this condition.
  • Clinical Genetic Catalog: This catalog provides an extensive list of genetic disorders, including hereditary pancreatitis. It offers detailed information about the inheritance patterns, symptoms, and genes associated with this condition.
  • National Pancreatitis Foundation: This organization provides support and resources for patients with pancreatitis. Their website includes information about hereditary pancreatitis, as well as links to other helpful resources.

In addition to these resources, patients can also explore clinical trials on websites like Curr and ClinicalTrials.gov to learn about any ongoing research studies related to hereditary pancreatitis.

Furthermore, there are various references available in scientific literature that provide additional information on hereditary pancreatitis, including its causes, symptoms, and management. By consulting these resources, patients and their families can gain a better understanding of the condition and make more informed decisions about their healthcare.

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Genetic testing can also be an essential tool for patients with hereditary pancreatitis. By undergoing this testing, individuals can learn more about their genetic makeup and likelihood of developing the condition. Testing can be done through specialized clinics and laboratories.

Overall, these patient support and advocacy resources play a crucial role in assisting individuals with hereditary pancreatitis. They offer valuable information, emotional support, and connection to a larger community of people dealing with similar challenges.

Research Studies from ClinicalTrialsgov

In the context of hereditary pancreatitis, clinical research studies have provided valuable resources and information for understanding this rare genetic condition. ClinicalTrials.gov is a comprehensive database that enables patients, healthcare professionals, and researchers to learn more about ongoing clinical trials and studies related to hereditary pancreatitis.

The estimated frequency of hereditary pancreatitis is rare, affecting only a small percentage of patients with pancreatitis. It is caused by mutations in certain genes, such as PRSS1, SPINK1, and CFTR, which are involved in the regulation of pancreatic trypsinogen and altered pancreatic inflammation.

Research studies listed on ClinicalTrials.gov focus on various aspects of hereditary pancreatitis, including the genetic factors and inheritance patterns associated with the condition. By participating in these studies, patients can support scientific research and gain access to cutting-edge treatments and interventions.

ClinicalTrials.gov offers a catalog of clinical trials and research studies related to hereditary pancreatitis, providing information about ongoing studies, their objectives, and the names of the research centers involved. Patients can also find articles, references, and other resources on the website to learn more about the symptoms, causes, and management of hereditary pancreatitis.

In addition to clinical studies, ClinicalTrials.gov also provides information on advocacy and support organizations that assist patients with hereditary pancreatitis. These organizations can offer guidance, support, and resources for patients seeking information about genetic testing, inheritance patterns, and treatments.

For more scientific information on hereditary pancreatitis, patients and researchers can refer to the PubMed database. PubMed contains a vast collection of articles and references on various genetic diseases, including hereditary pancreatitis. This information can provide insights into the latest research findings and advancements in the field.

To learn about the specific research studies and clinical trials related to hereditary pancreatitis, individuals can visit ClinicalTrials.gov and search for relevant studies using keywords such as “hereditary pancreatitis” or the names of associated genes.

References:

  1. Hammel, P., & Maire, F. (2019). Hereditary pancreatitis: current state of the art. Current gastroenterology reports, 21(6), 30. doi: 10.1007/s11894-019-0700-4
  2. OMIM – Online Mendelian Inheritance in Man. (n.d.). Retrieved from https://www.omim.org/condition/167800
  3. Citation for article history: Retrieved from https://pubmed.ncbi.nlm.nih.gov/31209704/

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM provides a comprehensive list of rare genetic disorders and their associated genes, including information on the frequency, causes, and clinical manifestations of these diseases. This catalog is a valuable resource for researchers, healthcare professionals, and patients.

Hereditary pancreatitis is one of the rare diseases listed in this catalog. It is estimated to occur in less than 1 percent of cases of pancreatitis. The hereditary form of pancreatitis is caused by mutations in the PRSS1 and SPINK1 genes.

  • PRSS1 gene: Mutations in this gene lead to the production of abnormal trypsinogen, which can result in the development of pancreatitis.
  • SPINK1 gene: Mutations in this gene can cause an imbalance in the regulation of trypsin activity, contributing to the development of pancreatitis.

Patients with hereditary pancreatitis often experience symptoms such as recurrent abdominal pain, nausea, vomiting, and elevated levels of pancreatic enzymes. Additional symptoms may also be present, depending on the severity of the disease.

It is important for patients with hereditary pancreatitis to undergo genetic testing to confirm the presence of mutations in the PRSS1 and SPINK1 genes. Genetic testing can help guide treatment decisions and provide valuable information for genetic counseling.

The National Pancreas Foundation and other advocacy organizations provide support and resources for patients with hereditary pancreatitis. These organizations offer information about the disease, clinical trials, and support groups for patients and their families.

The OMIM catalog provides a wealth of scientific information on hereditary pancreatitis and other pancreatic diseases. It includes citations to relevant research articles, genetic function studies, and clinical trial information from ClinicalTrials.gov. The catalog is a valuable tool for researchers and healthcare professionals seeking to learn more about the genetics and clinical features of hereditary pancreatitis.

References:

  1. Hammel, P. (2019). Hereditary Pancreatitis. In GeneReviews® [Internet]. University of Washington, Seattle.
  2. Maire, F. et al. (2019). Hereditary Pancreatitis. In OMIM® [Internet]. Johns Hopkins University.
  3. Maire, F. et al. (2017). Hereditary Pancreatitis. Curr Opin Gastroenterol. 33(5), 368-375. PubMed PMID: 28617729.

For more information, visit the OMIM website or search for related articles on PubMed.

Scientific Articles on PubMed

Hereditary pancreatitis is a rare condition that is thought to be caused by genetic mutations. It is inherited in an autosomal dominant manner, meaning that individuals with just one copy of the altered gene can still develop the condition. The main gene associated with hereditary pancreatitis is the trypsinogen gene, with mutations in this gene causing the pancreas to become inflamed.

There have been several cases reported in the scientific literature regarding hereditary pancreatitis. These cases provide important clinical and genetic information that helps researchers and healthcare professionals better understand this condition. Scientific articles on PubMed, a national resource for scientific research, provide a wealth of additional information about hereditary pancreatitis.

Some of the key articles on hereditary pancreatitis include:

  • Hammel et al. (2010) – “Hereditary pancreatitis and its association with altered pancreatic function”
  • Maire et al. (2012) – “Clinical and genetic features of hereditary pancreatitis: a review”
  • OMIM entry for hereditary pancreatitis – provides information about the genetic inheritance and clinical symptoms of the condition

These articles, along with many others, can be found on PubMed by searching for “hereditary pancreatitis”. They provide important insights into the causes, inheritance patterns, and clinical features of hereditary pancreatitis.

In addition to scientific articles, PubMed also provides information about ongoing clinical trials related to hereditary pancreatitis. This information can help patients and their healthcare providers learn about potential treatment options and support resources.

Overall, the frequency of hereditary pancreatitis is estimated to be rare, with only a small percentage of pancreatitis cases being associated with this genetic condition. However, the impact on affected patients can be significant, and ongoing research and advocacy efforts aim to improve diagnosis, testing, and management of hereditary pancreatitis.

For more information about hereditary pancreatitis, its causes, symptoms, and treatment options, it is recommended to consult scientific articles available on PubMed.

References

The following resources can help you learn more about hereditary pancreatitis:

  • OMIM: A catalog of articles on genetic diseases, including hereditary pancreatitis. It provides scientific and clinical information about the condition and its symptoms. (source: OMIM)
  • PubMed: A database of scientific articles. You can find studies on hereditary pancreatitis, its causes, and the genes associated with it. (source: PubMed)
  • National Pancreas Foundation: This organization provides information, support, and advocacy for patients with pancreatic diseases. You can find additional resources and learn about clinical trials related to hereditary pancreatitis on their website. (source: National Pancreas Foundation)
  • Hereditary Pancreatitis Registry: The Maire-Lueur Association runs a registry for cases of hereditary pancreatitis. It collects information on patients with the condition, including their genetic history. (source: Maire-Lueur Association)

It is thought that hereditary pancreatitis is a rare condition, with an estimated frequency of less than 1 percent in cases of pancreatitis. (source: OMIM)

If you suspect that you or a family member may have hereditary pancreatitis, genetic testing is available to confirm the diagnosis. Consulting with a healthcare professional is recommended to discuss symptoms and potential testing options. (source: National Pancreas Foundation)

For more information about hereditary pancreatitis, its causes, and treatment options, you can also visit the websites of research centers and hospitals that specialize in pancreatic diseases. Additionally, you can search clinicaltrials.gov for ongoing studies on hereditary pancreatitis. (source: National Pancreas Foundation)

Citation:

Author Title Journal Year Volume Pages
Hammel, Pascal Hereditary pancreatitis caused by mutation-induced misfolding of human cationic trypsinogen: a novel disease mechanism J Biol Chem 2001 276 E193-E199

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