Emily C O'Brien1, Matthew T Roe2, Elizabeth S Fraulo2, Eric D Peterson2, Christie M Ballantyne3, Jacques Genest4, Samuel S Gidding5, Emma Hammond6, Linda C Hemphill7, Lisa C Hudgins8, Iris Kindt9, Patrick M Moriarty10, Joyce Ross9, James A Underberg11, Karol Watson12, Dave Pickhardt9, Daniel J Rader13, Katherine Wilemon9, Joshua W Knowles14. 1. Duke Clinical Research Institute, Durham, NC. Electronic address: emily.obrien@duke.edu. 2. Duke Clinical Research Institute, Durham, NC. 3. Baylor College of Medicine, Houston, TX. 4. McGill University Health Center, Montreal, Canada. 5. A.I. DuPont Hospital for Children, Wilmington, DE. 6. Western Australian Department of Health, Perth, Western Australia. 7. Harvard University, Boston, MA. 8. Rogosin Institute Weill Cornell Medical College, New York, NY. 9. The FH Foundation, South Pasadena, CA. 10. University of Kansas Medical Center, Kansas City, KS. 11. NYU School of Medicine, New York, NY. 12. Ronald Reagan UCLA Medical Center, Los Angeles, CA. 13. University of Pennsylvania, Philadelphia, PA. 14. The FH Foundation, South Pasadena, CA; Stanford University School of Medicine, Stanford, CA.
Abstract
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.
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.
Authors: Emil M deGoma; Zahid S Ahmad; Emily C O'Brien; Iris Kindt; Peter Shrader; Connie B Newman; Yashashwi Pokharel; Seth J Baum; Linda C Hemphill; Lisa C Hudgins; Catherine D Ahmed; Samuel S Gidding; Danielle Duffy; William Neal; Katherine Wilemon; Matthew T Roe; Daniel J Rader; Christie M Ballantyne; MacRae F Linton; P Barton Duell; Michael D Shapiro; Patrick M Moriarty; Joshua W Knowles Journal: Circ Cardiovasc Genet Date: 2016-03-24
Authors: Roopa Mehta; Rafael Zubirán; Alexandro J Martagón; Alejandra Vazquez-Cárdenas; Yayoi Segura-Kato; María Teresa Tusié-Luna; Carlos A Aguilar-Salinas Journal: J Lipid Res Date: 2016-10-24 Impact factor: 5.922
Authors: Zahid S Ahmad; Rolf L Andersen; Lars H Andersen; Emily C O'Brien; Iris Kindt; Peter Shrader; Chandna Vasandani; Connie B Newman; Emil M deGoma; Seth J Baum; Linda C Hemphill; Lisa C Hudgins; Catherine D Ahmed; Iftikhar J Kullo; Samuel S Gidding; Danielle Duffy; William Neal; Katherine Wilemon; Matthew T Roe; Daniel J Rader; Christie M Ballantyne; MacRae F Linton; P Barton Duell; Michael D Shapiro; Patrick M Moriarty; Joshua W Knowles Journal: J Clin Lipidol Date: 2016-08-06 Impact factor: 4.766
Authors: Albert Wiegman; Samuel S Gidding; Gerald F Watts; M John Chapman; Henry N Ginsberg; Marina Cuchel; Leiv Ose; Maurizio Averna; Catherine Boileau; Jan Borén; Eric Bruckert; Alberico L Catapano; Joep C Defesche; Olivier S Descamps; Robert A Hegele; G Kees Hovingh; Steve E Humphries; Petri T Kovanen; Jan Albert Kuivenhoven; Luis Masana; Børge G Nordestgaard; Päivi Pajukanta; Klaus G Parhofer; Frederick J Raal; Kausik K Ray; Raul D Santos; Anton F H Stalenhoef; Elisabeth Steinhagen-Thiessen; Erik S Stroes; Marja-Riitta Taskinen; Anne Tybjærg-Hansen; Olov Wiklund Journal: Eur Heart J Date: 2015-05-25 Impact factor: 29.983