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Familial Hypercholesterolemia: Characterization of a pediatric population and evaluation of parental knowledge and attitudes

Phetteplace, Janel E
http://rave.ohiolink.edu/etdc/view?acc_num=ucin1427813032

Abstract Details

2015, MS, University of Cincinnati, Medicine: Genetic Counseling.
Background: Familial Hypercholesterolemia (FH) is estimated to affect one in every five hundred people. FH is a lifelong condition that if untreated can lead to premature coronary heart disease (CHD) and possibly death. In spite of the high prevalence, internationally FH is both underdiagnosed and undertreated, leaving a large population of people at a greatly increased risk for premature CHD. There are effective treatments available that can significantly improve long term survival. Methods: The prevalence of FH at CCHMC for individuals between age 2 and 21 was calculated using i2b2, a research data warehouse at CCHMC. A chart review was completed on 180 patients who were seen between 1/1/2011 and 7/15/2013 at CCHMC and met the inclusion criteria. A 42 item survey was developed to evaluate parental knowledge, attitudes and interest in genetic counseling and genetic testing. 171 surveys were sent out, 86 included an educational brochure created by the FH Foundation and 85 did not include the brochure. Results: The prevalence of FH in the selected population was 0.04%. 1% of individuals between the ages of 9 and 11 received cholesterol screening at CCHMC. Of the 180 individuals included in the chart review, 146 (81%) had seen a lipid specialist, 47 (26%) had a diagnosis of FH, 105 (58%) had a diagnosis of dyslipidemia or hyperlipidemia, 28 (16%) had been prescribed a statin, 0 (0%) had discussed FH with a genetic counselor. Of the 171 surveys sent, 76 surveys were completed with a response rate of 44%. Respondents whose child had been prescribed a statin had a higher mean knowledge score than respondents who children had not been prescribed a statin (p = 0.0267). If the respondent reported that a healthcare provider had talked to them about FH there was a trend towards significant associated with knowledge score (p = 0.0606). Receiving the educational brochure, having a diagnosis of FH, reported use of the internet to look up FH, annual house hold income and a reported family history of hypercholesterolemia were not associated with increased knowledge. Conclusions: Results from this study supports existing data regarding the under diagnosis of FH and the lack of adherence to routine cholesterol screening. Participants who reported a health care provider had previously spoken to them about FH were more knowledgeable compared to those who had not. Given the important role healthcare providers play in patient education, incorporating genetic counselors into the counseling and risk assessment of these patients and families may increase overall disease knowledge as well as adherence to cholesterol screening and genetic testing guidelines.
Elaine Urbina, M.D. (Committee Chair)
Erin Miller, M.S. G.C.G. (Committee Member)
Ashley Parrott, MS (Committee Member)
Valentina Pilipenko, Ph.D. (Committee Member)
Amy R (Garrison) Shikany, MS LCGC (Committee Member)
Melanie Myers, Ph.D. (Committee Member)
42 p.
Genetics
Familial hypercholesterolemia; high cholesterol; dyslipidemia; parental attitudes; genetic counseling; knowledge

Recommended Citations

Citations

  • Phetteplace, J. E. (2015). Familial Hypercholesterolemia: Characterization of a pediatric population and evaluation of parental knowledge and attitudes [Master's thesis, University of Cincinnati]. OhioLINK Electronic Theses and Dissertations Center. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1427813032

    APA Style (7th edition)

  • Phetteplace, Janel. Familial Hypercholesterolemia: Characterization of a pediatric population and evaluation of parental knowledge and attitudes. 2015. University of Cincinnati, Master's thesis. OhioLINK Electronic Theses and Dissertations Center, http://rave.ohiolink.edu/etdc/view?acc_num=ucin1427813032.

    MLA Style (8th edition)

  • Phetteplace, Janel. "Familial Hypercholesterolemia: Characterization of a pediatric population and evaluation of parental knowledge and attitudes." Master's thesis, University of Cincinnati, 2015. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1427813032

    Chicago Manual of Style (17th edition)

ucin1427813032
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This open access ETD is published by University of Cincinnati and OhioLINK.