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Rationale and design of the familial hypercholesterolemia foundation CAscade SCreening for Awareness and DEtection of Familial Hypercholesterolemia registry.

Publication ,  Journal Article
O'Brien, EC; Roe, MT; Fraulo, ES; Peterson, ED; Ballantyne, CM; Genest, J; Gidding, SS; Hammond, E; Hemphill, LC; Hudgins, LC; Kindt, I ...
Published in: Am Heart J
March 2014

BACKGROUND: Familial hypercholesterolemia (FH) is a hereditary condition caused by various genetic mutations that lead to significantly elevated low-density lipoprotein cholesterol levels and resulting in a 20-fold increased lifetime risk for premature cardiovascular disease. Although its prevalence in the United States is 1 in 300 to 500 individuals, <10% of FH patients are formally diagnosed, and many are not appropriately treated. Contemporary data are needed to more fully characterize FH disease prevalence, treatment strategies, and patient experiences in the United States. DESIGN: The Familial Hypercholesterolemia Foundation (a patient-led nonprofit organization) has established the CAscade SCreening for Awareness and DEtection of Familial Hypercholesterolemia (CASCADE FH) Registry as a national, multicenter initiative to identify US FH patients, track their treatment, and clinical and patient-reported outcomes over time. The CASCADE FH will use multiple enrollment strategies to maximize identification of FH patients. Electronic health record screening of health care systems will provide an efficient mechanism to identify undiagnosed patients. A group of specialized lipid clinics will enter baseline and annual follow-up data on demographics, laboratory values, treatment, and clinical events. Patients meeting prespecified low-density lipoprotein or total cholesterol criteria suspicious for FH will have the opportunity to self-enroll in an online patient portal with information collected directly from patients semiannually. Registry patients will be provided information on cascade screening and will complete an online pedigree to assist with notification of family members. SUMMARY: The Familial Hypercholesterolemia Foundation CASCADE FH Registry represents a novel research paradigm to address gaps in knowledge and barriers to comprehensive FH screening, identification, and treatment.

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Published In

Am Heart J

DOI

EISSN

1097-6744

Publication Date

March 2014

Volume

167

Issue

3

Start / End Page

342 / 349.e17

Location

United States

Related Subject Headings

  • United States
  • Registries
  • Mass Screening
  • Longitudinal Studies
  • Internet
  • Hyperlipoproteinemia Type II
  • Humans
  • Health Records, Personal
  • Foundations
  • Electronic Health Records
 

Citation

APA
Chicago
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MLA
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O’Brien, E. C., Roe, M. T., Fraulo, E. S., Peterson, E. D., Ballantyne, C. M., Genest, J., … Knowles, J. W. (2014). Rationale and design of the familial hypercholesterolemia foundation CAscade SCreening for Awareness and DEtection of Familial Hypercholesterolemia registry. Am Heart J, 167(3), 342-349.e17. https://doi.org/10.1016/j.ahj.2013.12.008
O’Brien, Emily C., Matthew T. Roe, Elizabeth S. Fraulo, Eric D. Peterson, Christie M. Ballantyne, Jacques Genest, Samuel S. Gidding, et al. “Rationale and design of the familial hypercholesterolemia foundation CAscade SCreening for Awareness and DEtection of Familial Hypercholesterolemia registry.Am Heart J 167, no. 3 (March 2014): 342-349.e17. https://doi.org/10.1016/j.ahj.2013.12.008.
O’Brien EC, Roe MT, Fraulo ES, Peterson ED, Ballantyne CM, Genest J, et al. Rationale and design of the familial hypercholesterolemia foundation CAscade SCreening for Awareness and DEtection of Familial Hypercholesterolemia registry. Am Heart J. 2014 Mar;167(3):342-349.e17.
O’Brien, Emily C., et al. “Rationale and design of the familial hypercholesterolemia foundation CAscade SCreening for Awareness and DEtection of Familial Hypercholesterolemia registry.Am Heart J, vol. 167, no. 3, Mar. 2014, pp. 342-349.e17. Pubmed, doi:10.1016/j.ahj.2013.12.008.
O’Brien EC, Roe MT, Fraulo ES, Peterson ED, Ballantyne CM, Genest J, Gidding SS, Hammond E, Hemphill LC, Hudgins LC, Kindt I, Moriarty PM, Ross J, Underberg JA, Watson K, Pickhardt D, Rader DJ, Wilemon K, Knowles JW. Rationale and design of the familial hypercholesterolemia foundation CAscade SCreening for Awareness and DEtection of Familial Hypercholesterolemia registry. Am Heart J. 2014 Mar;167(3):342-349.e17.
Journal cover image

Published In

Am Heart J

DOI

EISSN

1097-6744

Publication Date

March 2014

Volume

167

Issue

3

Start / End Page

342 / 349.e17

Location

United States

Related Subject Headings

  • United States
  • Registries
  • Mass Screening
  • Longitudinal Studies
  • Internet
  • Hyperlipoproteinemia Type II
  • Humans
  • Health Records, Personal
  • Foundations
  • Electronic Health Records