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Pseudoxanthoma Elasticum Epidemiological Survey Report

Troutman, Catherine E (2022) Pseudoxanthoma Elasticum Epidemiological Survey Report. Master Essay, University of Pittsburgh.

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Pseudoxanthoma Elasticum (PXE) is a rare genetic condition, for which there is currently no cure or effective treatment, and disease manifestations can occur in multiple organs/systems including the skin, eyes, and vascular system. PXE International is a disease advocacy organization for individuals with this condition, with the mission to promote/conduct research and disseminate information on PXE. It is of public health importance to further understand PXE, by investigating both already established and potentially novel disease manifestations to aid their early detection and a better management of this genetic condition and improve quality of life of the patients by preventing serious complications. The purpose of this study was to analyze data from a survey administered to individuals with PXE three times over 17 years by PXE International, to gain further insights into the disease manifestations and their progressions. Survey responses were compiled in two datasets: the first containing the first responses from all individuals (n=1,614), and the other containing the responses from the individuals who were able to respond to all three of the surveys (n=38). The surveys mainly investigated each individual’s disease manifestations and age of onset. Survey results were analyzed and summarized. For selected disease manifestations, such as gastrointestinal bleeding and vascular system manifestations that are also commonly seen in the general population, the proportion of survey respondents that experienced these manifestations was compared to the prevalence of the same signs and symptoms within the general population to determine if they were significantly different. General population prevalence data were gathered from other research studies and/or reputable resources like the American Heart Association. A significantly larger proportion of the respondents experienced gastrointestinal bleeding, heart disease, heart attack, arrhythmia, peripheral vascularization, and a floppy valve compared to the general population. Replication of these significant findings in independent large studies/cohorts may help to determine if these manifestations are biologically linked to PXE. The responses from the individuals who answered all three surveys were compiled with the intention of mapping out a potential skin symptom progression timeline; however, the small sample size (n=38) did not allow for a clear timeline to present itself.


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Item Type: Other Thesis, Dissertation, or Long Paper (Master Essay)
Status: Unpublished
CreatorsEmailPitt UsernameORCID
Troutman, Catherine Ecat111@pitt.educat111
ContributionContributors NameEmailPitt UsernameORCID
Committee ChairDemirci, F. Yesimfyd1@pitt.edufyd1UNSPECIFIED
Committee MemberCarlson, Jennajnc35@pitt.edujnc35UNSPECIFIED
Date: 12 May 2022
Date Type: Completion
Number of Pages: 89
Institution: University of Pittsburgh
Schools and Programs: School of Public Health > Human Genetics
Degree: MPH - Master of Public Health
Thesis Type: Master Essay
Refereed: No
Date Deposited: 12 May 2022 17:26
Last Modified: 12 May 2024 05:15


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