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Dive into the research topics where Katherine Wilemon is active.

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Featured researches published by Katherine Wilemon.


American Heart Journal | 2014

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

Emily C. O’Brien; Matthew T. Roe; Elizabeth S. Fraulo; Eric D. Peterson; Christie M. Ballantyne; Jacques Genest; Samuel S. Gidding; E. Hammond; Linda C. Hemphill; Lisa C. Hudgins; Iris Kindt; Patrick M. Moriarty; Joyce L. Ross; James Underberg; Karol Watson; Dave Pickhardt; Daniel J. Rader; Katherine Wilemon; Joshua W. Knowles

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.


Circulation-cardiovascular Genetics | 2016

Treatment Gaps in Adults with Heterozygous Familial Hypercholesterolemia in the United States: Data from the CASCADE-FH Registry

Emil M. deGoma; Zahid 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 A. 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

Background— Cardiovascular disease burden and treatment patterns among patients with familial hypercholesterolemia (FH) in the United States remain poorly described. In 2013, the FH Foundation launched the Cascade Screening for Awareness and Detection (CASCADE) of FH Registry to address this knowledge gap. Methods and Results— We conducted a cross-sectional analysis of 1295 adults with heterozygous FH enrolled in the CASCADE-FH Registry from 11 US lipid clinics. Median age at initiation of lipid-lowering therapy was 39 years, and median age at FH diagnosis was 47 years. Prevalent coronary heart disease was reported in 36% of patients, and 61% exhibited 1 or more modifiable risk factors. Median untreated low-density lipoprotein cholesterol (LDL-C) was 239 mg/dL. At enrollment, median LDL-C was 141 mg/dL; 42% of patients were taking high-intensity statin therapy and 45% received >1 LDL-lowering medication. Among FH patients receiving LDL-lowering medication(s), 25% achieved an LDL-C <100 mg/dL and 41% achieved a ≥50% LDL-C reduction. Factors associated with prevalent coronary heart disease included diabetes mellitus (adjusted odds ratio 1.74; 95% confidence interval 1.08–2.82) and hypertension (2.48; 1.92–3.21). Factors associated with a ≥50% LDL-C reduction from untreated levels included high-intensity statin use (7.33; 1.86–28.86) and use of >1 LDL-lowering medication (1.80; 1.34–2.41). Conclusions— FH patients in the CASCADE-FH Registry are diagnosed late in life and often do not achieve adequate LDL-C lowering, despite a high prevalence of coronary heart disease and risk factors. These findings highlight the need for earlier diagnosis of FH and initiation of lipid-lowering therapy, more consistent use of guideline-recommended LDL-lowering therapy, and comprehensive management of traditional coronary heart disease risk factors.


Clinical Cardiology | 2017

PCSK9 inhibitor access barriers—issues and recommendations: Improving the access process for patients, clinicians and payers

Seth J. Baum; Peter P. Toth; James Underberg; Paul S. Jellinger; Joyce L. Ross; Katherine Wilemon

The proprotein convertase subtilisin/kexin type 9 inhibitors or monoclonal antibodies likely represent the greatest advance in lipid management in 30 years. In 2015 the US Food and Drug Administration approved both alirocumab and evolocumab for high‐risk patients with familial hypercholesterolemia (FH) and clinical atherosclerotic cardiovascular disease requiring additional lowering of low‐density lipoprotein cholesterol. Though many lipid specialists, cardiovascular disease prevention experts, endocrinologists, and others prescribed the drugs on label, they found their directives denied 80% to 90% of the time. The high frequency of denials prompted the American Society for Preventive Cardiology (ASPC), to gather multiple stakeholder organizations including the American College of Cardiology, National Lipid Association, American Association of Clinical Endocrinologists (AACE), and FH Foundation for 2 town hall meetings to identify access issues and implement viable solutions. This article reviews findings recognized and solutions suggested by experts during these discussions. The article is a product of the ASPC, along with each author writing as an individual and endorsed by the AACE.


Circulation | 2017

Access to Nonstatin Lipid-Lowering Therapies in Patients at High Risk of Atherosclerotic Cardiovascular Disease

Joshua W. Knowles; William Howard; Lala Karayan; Seth J. Baum; Katherine Wilemon; Christie M. Ballantyne; Kelly D. Myers

High-intensity statins are recommended for all patients with familial hypercholesterolemia (FH) and non-statin lipid lowering therapies (LLTs) are indicated when there is an inadequate response to statins 1, 2 . In the pre-PCSK9 inhibitor (PCSK9i) era only about 40% of FH patients achieved an LDL-C level 3 . Partly based on the need for additional therapeutic options in high-risk FH patients, PCSK9 inhibitors were approved for treatment of heterozygous and homozygous FH in 2015. Nevertheless, emerging anecdotal data suggest that access to non-statin LLTs has been a challenge for FH patients though this has not been systematically evaluated. The FH Optimal Care of the US (FOCUS) study was designed by The FH Foundation to assess current treatment patterns of FH patients, and allowed us to assess rejection rates of PCSK9 inhibitors in those with FH or ASCVD.


Journal of the American College of Cardiology | 2018

Clinical Genetic Testing for Familial Hypercholesterolemia: JACC Scientific Expert Panel

Amy C. Sturm; Joshua W. Knowles; Samuel S. Gidding; Zahid Ahmad; Catherine D. Ahmed; Christie M. Ballantyne; Seth J. Baum; Mafalda Bourbon; Alain Carrié; Marina Cuchel; Sarah D. de Ferranti; Joep C. Defesche; Tomáš Freiberger; Ray E. Hershberger; G. Kees Hovingh; Lala Karayan; Johannes Jacob Pieter Kastelein; Iris Kindt; Stacey R. Lane; Sarah E. Leigh; MacRae F. Linton; Pedro Mata; William A. Neal; Børge G. Nordestgaard; Raul D. Santos; Mariko Harada-Shiba; Eric J.G. Sijbrands; Nathan O. Stitziel; Shizuya Yamashita; Katherine Wilemon

Although awareness of familial hypercholesterolemia (FH) is increasing, this common, potentially fatal, treatable condition remains underdiagnosed. Despite FH being a genetic disorder, genetic testing is rarely used. The Familial Hypercholesterolemia Foundation convened an international expert panel to assess the utility of FH genetic testing. The rationale includes the following: 1) facilitation of definitive diagnosis; 2) pathogenic variants indicate higher cardiovascular risk, which indicates the potential need for more aggressive lipid lowering; 3) increase in initiation of and adherence to therapy; and 4) cascade testing of at-risk relatives. The Expert Consensus Panel recommends that FH genetic testing become the standard of care for patients with definite or probable FH, as well as for their at-risk relatives. Testing should include the genes encoding the low-density lipoprotein receptor (LDLR), apolipoprotein B (APOB), and proprotein convertase subtilisin/kexin 9 (PCSK9); other genes may also need to be considered for analysis based on patient phenotype. Expected outcomes include greater diagnoses, more effective cascade testing, initiation of therapies at earlier ages, and more accurate risk stratification.


Circulation-cardiovascular Genetics | 2016

Treatment Gaps in Adults With Heterozygous Familial Hypercholesterolemia in the United States

Emil M. deGoma; Zahid 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 A. 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

Background— Cardiovascular disease burden and treatment patterns among patients with familial hypercholesterolemia (FH) in the United States remain poorly described. In 2013, the FH Foundation launched the Cascade Screening for Awareness and Detection (CASCADE) of FH Registry to address this knowledge gap. Methods and Results— We conducted a cross-sectional analysis of 1295 adults with heterozygous FH enrolled in the CASCADE-FH Registry from 11 US lipid clinics. Median age at initiation of lipid-lowering therapy was 39 years, and median age at FH diagnosis was 47 years. Prevalent coronary heart disease was reported in 36% of patients, and 61% exhibited 1 or more modifiable risk factors. Median untreated low-density lipoprotein cholesterol (LDL-C) was 239 mg/dL. At enrollment, median LDL-C was 141 mg/dL; 42% of patients were taking high-intensity statin therapy and 45% received >1 LDL-lowering medication. Among FH patients receiving LDL-lowering medication(s), 25% achieved an LDL-C <100 mg/dL and 41% achieved a ≥50% LDL-C reduction. Factors associated with prevalent coronary heart disease included diabetes mellitus (adjusted odds ratio 1.74; 95% confidence interval 1.08–2.82) and hypertension (2.48; 1.92–3.21). Factors associated with a ≥50% LDL-C reduction from untreated levels included high-intensity statin use (7.33; 1.86–28.86) and use of >1 LDL-lowering medication (1.80; 1.34–2.41). Conclusions— FH patients in the CASCADE-FH Registry are diagnosed late in life and often do not achieve adequate LDL-C lowering, despite a high prevalence of coronary heart disease and risk factors. These findings highlight the need for earlier diagnosis of FH and initiation of lipid-lowering therapy, more consistent use of guideline-recommended LDL-lowering therapy, and comprehensive management of traditional coronary heart disease risk factors.


Journal of the American College of Cardiology | 2015

INITIAL RESULTS FROM THE CASCADE-FH REGISTRY: CASCADE SCREENING FOR AWARENESS AND DETECTION OF FAMILIAL HYPERCHOLESTEROLEMIA

Emily C. O’Brien; Emil DeGoma; Patrick Moriarty; MacRae F. Linton; Michael Shapiro; Bart Duell; Christie Ballantyne; William Neal; Zahid Ahmad; Danielle Duffy; Lisa Hudgins; Linda Hemphill; James Underberg; Karol Watson; Samuel Gidding; Seth J. Baum; Kristen Dilzell; Joyce Ross; David Pickhardt; Iris Kindt; Daniel J. Rader; Katherine Wilemon; Matthew T. Roe; Joshua Knowles

common genetic disease that leads to substantially elevated levels of lowdensity lipoprotein cholesterol (LDL-C)  The 2013 ACC/AHA guidelines for treatment of Blood Cholesterol to Reduce ASCVD risk in adults denote an LDL-C level > 190 mg/dL (suggestive of FH) as an independent high-risk feature.  Individuals with FH have a 20-fold increase in risk of early cardiovascular disease.  Despite its prevalence, FH remains largely underrecognized: an estimated 1.5 million individuals in the U.S. have FH, yet fewer than 10% have been formally diagnosed.


Clinical Lipidology | 2014

Underutilization of cascade screening for familial hypercholesterolemia

William A. Neal; Josh Knowles; Katherine Wilemon

Abstract “Clinicians attempt to optimally treat their individual patients with elevated cholesterol, especially those with documented coronary heart disease.”


Human Mutation | 2018

ClinVar database of global familial hypercholesterolemia-associated DNA variants

Michael A. Iacocca; Joana Chora; Alain Carrié; Tomáš Freiberger; Sarah Leigh; Joep C. Defesche; C. Lisa Kurtz; Marina T. DiStefano; Raul D. Santos; Steve E. Humphries; Pedro Mata; Cinthia E. Jannes; Amanda J. Hooper; Katherine Wilemon; Pascale Benlian; Robert O'Connor; John Garcia; Hannah E. Wand; Lukas Tichy; Eric J.G. Sijbrands; Robert A. Hegele; Mafalda Bourbon; Joshua W. Knowles

Accurate and consistent variant classification is imperative for incorporation of rapidly developing sequencing technologies into genomic medicine for improved patient care. An essential requirement for achieving standardized and reliable variant interpretation is data sharing, facilitated by a centralized open‐source database. Familial hypercholesterolemia (FH) is an exemplar of the utility of such a resource: it has a high incidence, a favorable prognosis with early intervention and treatment, and cascade screening can be offered to families if a causative variant is identified. ClinVar, an NCBI‐funded resource, has become the primary repository for clinically relevant variants in Mendelian disease, including FH. Here, we present the concerted efforts made by the Clinical Genome Resource, through the FH Variant Curation Expert Panel and global FH community, to increase submission of FH‐associated variants into ClinVar. Variant‐level data was categorized by submitter, variant characteristics, classification method, and available supporting data. To further reform interpretation of FH‐associated variants, areas for improvement in variant submissions were identified; these include a need for more detailed submissions and submission of supporting variant‐level data, both retrospectively and prospectively. Collaborating to provide thorough, reliable evidence‐based variant interpretation will ultimately improve the care of FH patients.


Atherosclerosis | 2018

Familial hypercholesterolaemia patient support groups and advocacy: A multinational perspective

Jules Payne; Simon Williams; Diana Maxwell; Ma Teresa Pariente; Raquel Arroyo Olivares; Marlieke Janssen ten Haaf; Durhane Wong-Rieger; Fritz Rieger; Angela Covato; Hilary Wong-Rieger; Luba Cermakova; Katherine Wilemon

Familial hypercholesterolaemia (FH) is an autosomal-dominant disorder associated with high low-density lipoprotein cholesterol (LDL-C). Left untreated, 50% of men with FH will develop coronary heart disease by the age of 50 and 30% of women by the age 60 [1,2]. It is estimated that the prevalence may be as high as one in 250 people, with most undiagnosed. This article explores the development of advocacy in FH patient organisations, citing examples from Canada, the Netherlands, Spain, the US and the UK as well as the pan-European patient organisation, FH Europe. The article demonstrates that for patient advocacy, the link with medical and scientific expertise is essential to ensure that advocacy for familial hypercholesterolaemia is well-founded and credible and that patient associations are prepared to take a long-term view on achieving improvements in identification and treatment.

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Daniel J. Rader

University of Pennsylvania

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MacRae F. Linton

Vanderbilt University Medical Center

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Zahid Ahmad

University of Texas Southwestern Medical Center

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