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Hereditary pancreatitis: outcomes and risks

Shelton, Celeste (2015) Hereditary pancreatitis: outcomes and risks. Master's Thesis, University of Pittsburgh. (Unpublished)

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Pancreatitis is an inflammatory disease of the pancreas that was first identified in the 1600s. Symptoms for pancreatitis include intense abdominal pain, nausea, and malnutrition. Hereditary pancreatitis (HP) is a genetic condition in which recurrent acute attacks can progress to chronic pancreatitis, typically beginning in adolescence. Mutations in the PRSS1 gene cause autosomal dominant HP. The 1996 discovery of a PRSS1 mutation causative for hereditary pancreatitis was in direct contrast to much of the medical community’s long-held beliefs that pancreatitis is primarily caused by alcoholism and gallstones. HP strongly impacts quality of life and is a risk factor for pancreatic cancer, making it a public health concern. Our understanding of HP is still limited, and chronic pancreatitis remains a serious disease for which significant treatment options are lacking. Questions remain regarding the exact mechanism of cancer development and risk factors in families with HP. Furthermore, HP has unpredictable duration, severity, complications, and outcomes. It is often accompanied by systemic diseases and complications, such as diabetes mellitus. Therefore, research is needed to further define the natural history of HP, its psychosocial implications, and its interactions with other risk factors. The overall goal of this research is to improve quality of life, patient care, and treatment options for individuals with this debilitating disease by understanding more about the natural history of the condition and collecting information on attitudes, concerns, and perspectives. The Hereditary Pancreatitis Study at the University of Pittsburgh has collected genetic, medical, and environmental data from hundreds of American families with pancreatitis since the mid-1990s. I have described the natural history of HP in this American cohort, analyzed risks for pancreatic cancer and diabetes based on family history, and assessed large HP pedigrees with pancreatic cancer. My analysis indicates that this American cohort is similar to published studies on the French, Danish, and other European populations. I also created a follow-up questionnaire for these participants to gather information on attitudes, risks for pancreatic cancer, and views on a pancreatic center of excellence and its services. Data from this questionnaire will be relevant to improving patient care in future studies.


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Item Type: University of Pittsburgh ETD
Status: Unpublished
CreatorsEmailPitt UsernameORCID
Shelton, Celestecas186@pitt.eduCAS186
ETD Committee:
TitleMemberEmail AddressPitt UsernameORCID
Committee ChairWhitcomb, David C.whitcomb@pitt.eduWHITCOMB
Committee MemberGrubs, Robinrgrubs@pitt.eduRGRUBS
Committee MemberBrand, Randall E.reb53@pitt.eduREB53
Committee MemberShaffer, John Rjrs51@pitt.eduJRS51
Date: 29 June 2015
Date Type: Publication
Defense Date: 7 April 2015
Approval Date: 29 June 2015
Submission Date: 5 April 2015
Access Restriction: No restriction; Release the ETD for access worldwide immediately.
Number of Pages: 98
Institution: University of Pittsburgh
Schools and Programs: School of Public Health > Genetic Counseling
Degree: MS - Master of Science
Thesis Type: Master's Thesis
Refereed: Yes
Uncontrolled Keywords: hereditary pancreatitis, pancreas, genetics, diabetes, pancreatic cancer, genetic counseling
Date Deposited: 29 Jun 2015 14:40
Last Modified: 15 Nov 2016 14:27


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