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Improving early diagnosis and encouraging proactive care of familial hypercholesterolemia (FH)
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The FH Foundation is here for you!
Improving early diagnosis and encouraging proactive care of familial hypercholesterolemia (FH)
| Frederick J. Raal, MBBCh, FRCP, FCP(SA), Cert Endo, MMED, PhD PANELIST Head Division of Endocrinology & Metabolism Director Carbohydrate and Lipid Metabolism Research Unit Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa
Professor Raal is currently Professor and Head of the Division of Endocrinology and Metabolism, as well as Director of the Carbohydrate and Lipid Metabolism Research Unit, University of the Witwatersrand, Johannesburg, South Africa. Professor Raal is particularly interested in lipids and lipid disorders and has been integrally involved in the management of familial dyslipidaemia, particularly heterozygous and homozygous familial hypercholesterolaemia (FH). His Unit has one of the largest cohorts, if not the largest cohort, of homozygous FH patients in the world and has contributed and continues to contribute to the management of these patients. The major focus of his research remains the clinical, biochemical, genetic and therapeutic management of this condition and he continues to conduct studies with novel therapies such as PCSK9-inhibitors and ANGPTL3-inhibitors in this patient group. |
Daniel J. Rader, MD CO-CHAIR The FH Foundation Perelman School of Medicine, University of Pennsylvania
Daniel Rader, MD is the Seymour Gray Professor of Molecular Medicine and Chair of the Department of Genetics at the Perelman School of Medicine. He also serves as Chief of the Divisions of Human Genetics in the Departments of Medicine and Pediatrics. Dr. Rader is Associate Director of Penn’s Institute for Translational Medicine and Therapeutics and directs the Penn Medicine BioBank, an integrated resource to support human genetics and translational research. Dr. Rader trained in internal medicine at the Yale-New Haven Hospital and in human genetics and physiology of lipid metabolism at the National Institutes of Health. He was recruited to Penn in 1994. Dr. Rader’s research focuses on the human genetics and functional genomics of lipid metabolism and atherosclerosis, as well as the translational implications for novel therapeutic approaches. He ‘rescued’ an abandoned molecule that reduces cholesterol and led the successful development of this compound as a novel therapeutic for patients with homozygous familial hypercholesterol- emia, a genetic form of severely elevated cholesterol. He is known for his work in the metabolism and function of HDL (the ‘good cholesterol’). Dr. Rader has led pioneering studies of novel bio- logical pathways in lipid metabolism and heart disease revealed through genome-wide human genetics studies. He has been an international leader in the translational of human genetics into novel therapeutic targets. He has also been a champion of ‘genomic medicine’ and its potential benefits in guiding preventive therapies. He has been involved in several start-up biotech compa- nies related to his work. Dr. Rader sees patients with lipid disorders and has been regularly recognized by America’s Top Doctors and Best Doctors in America. He is a recipient of several national and international awards for his research contributions. He has been elected to the National Academy of Medicine and the American Academy of Arts and Sciences. |
Katherine A. Wilemon CO-HOST The FH Foundation
Katherine Wilemon is the Founder, President & CEO of The FH Foundation, a leading research and advocacy non-profit organization focused on reducing heart disease by driving scientific under- standing and evidence-based care of familial hypercholesterolemia (FH). The mission of The FH Foundation is to save lives by contributing to scientific research that leads to greater understanding and improved diagnosis and treatment of FH worldwide. The FH Foundation works in partnership with patients, clinicians, scientists and all participants in the healthcare ecosystem to develop inno- vative solutions that will overcome barriers to diagnosis, treatment and access.
Along with her work at The FH Foundation, Ms. Wilemon co-leads the Cascade Screening Working Group of the National Academy of Medicine’s Genomics and Population Health Action Collaborative. This collaborative is focused on developing tools and best practices for the identification and genetic testing of at-risk relatives of those diagnosed with three Tier 1 conditions: Hereditary Breast and Ovarian Cancer, Lynch syndrome, and FH. |
| Kevin Volpp, MD, PhD KEYNOTE Center for Health Incentives and Behavioral Economics (CHIBE) Perelman School of Medicine, University of Pennsylvania
Dr. Kevin Volpp is the Founders Presidential Distinguished Professor at the School of Medicine and the Wharton School at the University of Pennsylvania and the Director of the Penn Roybal Center for Health Incentives and Behavioral Economics (CHIBE), 1 of 2 original NIH-funded Centers in Behavioral Economics and health. He is also the Division Chief of Health Policy for the Department of Medical Ethics and Health Policy and a special advisor to the CEO of Penn Medicine and the Dean/EVP. He is known nationally and internationally for developing the application of behavioral economics to health and for designing and testing initiatives to improve health that have been implemented in tens of millions of Americans. He has garnered numerous awards for his research including election into the National Academy of Medicine, the British Medical Journal Group Award for Translating Research into Practice, and Article of the Year and Career Achievement Awards from multiple societies, including from NIH for work in social and behavioral sciences and the John Eisenberg Award from the Society of General Internal Medicine. He served on the Editorial Board of the Annals of Internal Medicine and as a Contributing Writer to JAMA and is now on the Editorial Board of the NEJM Catalyst. |
| Robert A. Hegele, MD, FRCPC, FACP KEYNOTE SPEAKER & PIONEER AWARDEE Western University Distinguished University Professor of Medicine & Biochemistry Robarts Research Institute, London, ON, Canada Director
Rob Hegele is Distinguished University Professor of Medicine and Biochemistry, Western University and is Director of the London Regional Genomics Centre at Robarts Research Institute, all in in London, Ontario. He holds the Wolfe Distinguished Medical Research Chair, the Edith Schulich Vinet Chair in Human Genetics and the Blackburn Chair in Cardiovascular Research. In 1981 as a medical intern, Rob saw his first FH patient. This helped motivate a career-long interest in lipids. As a research fellow in 1986 he applied DNA technologies in FH diagnosis. He currently cares for >2500 patients in his lipid clinic, including >500 patients with heterozygous FH as well as 6 FH homozygotes. In 2013 his lab developed a targeted next-generation DNA sequencing panel for diagnosis of FH and other genetic dyslipidemias. He was first in North America to use five medications that are now routinely prescribed to treat high cholesterol and diabetes. He has published >770 peer reviewed scientific papers. Rob has contributed to international clinical practice guidelines on FH and other genetic dyslipidemias, and also to guidelines for cholesterol, blood pressure and diabetes. He has trained many physicians, medical students and graduate students. |
| Latrice Landry, MS, PhD, MSC FEATURED SPEAKER Harvard School of Medicine/ Harvard Schools of Public Health Fellow
Latrice Landry is a fellow specializing in precision medicine and health disparities at Harvard Medical School, Brigham and Women’s Hospital, Dana Farber Cancer Institute and Harvard School of Public Health. She received both her master’s degree in Policy and her PhD in Nutrition from Tufts University. Her doctoral research focused on the interactions between diet and genetics as determinants for dyslipidemia in African Americans in the Jackson Heart Study. As a doctoral student, Dr. Landry was awarded the Albert Schweitzer fellowship, nominated as a finalist in the American Society for Nutrition’s Clinical Emerging Leaders Award, and was given the Presidential Award for Citizenship and Public Service at Tufts University. In 2015, following her doctoral research she joined Harvard Medical School’s Biomedical Informatics Fellowship Program to study information systems (clinical and bioinformatics) as tools for biomarker translation. In 2018, she graduated from the Harvard Medical School’s Clinical Molecular Genetics’ training program enabling her to integrate her biomarker expertise with direct patient care. She was the Inaugural Food and Drug Administration’s Genomic Medicine and Minority Health Fellow and was recognized as a thought leader in minority health and precision medicine by the National Minority Quality Forum in 2017, as a top 10 under 40 rising stars in Business and Academia by Genetic Engineering and Biotechnology on 2018 and an American Society of Human Genetics, Human Genetics Scholar in 2019. As a clinical geneticists, epidemiologist and nutritionist, Dr. Landry is focused on the engineering of equity-based systems engineering for clinical integration, translation, evaluation, optimization, and implementation of biomarkers. She is helping to lead equity and disparities research in the field of precision medicine, precision nutrition and precision public health. |
| Meghan Lane-Fall, MD, MSHP FEATURED SPEAKER Perelman School of Medicine
Meghan Lane-Fall, MD, MSHP, FCCM is a physician-scientist committed to the provision of safe, effective patient care. Her research agenda is focused on implementation science – the empiric study of strategies to facilitate the uptake and sustained use of evidence-based practice. Dr. Lane-Fall is the founding Co-Director of the Penn Center for Perioperative Outcomes Research and Transformation. She is Vice Chair of Inclusion, Diversity, and Equity and Associate Professor of Anesthesiology and Critical Care with a secondary appointment in Epidemiology at the University of Pennsylvania. She is a board-certified anesthesiologist and surgical intensivist whose main research interest is improving healthcare provider communication at times of transition or handoff across sites of care. She employs qualitative and mixed methods to develop effective communication strategies that incorporate human factors principles while complementing clinician workflow. Dr. Lane-Fall is also interested in building research capacity in health services research; she mentors junior faculty, research fellows, and health professions students and co-directs Penn’s graduate level implementation science courses. Dr. Lane-Fall received her AB degree with High Distinction from the University of California at Berkeley. She received her MD degree from Yale University, where she was elected to the Alpha Omega Alpha honor society. She completed anesthesia residency, critical care fellowship and research fellowship at the University of Pennsylvania, during which time she completed a Master of Science in Health Policy Research. Dr. Lane-Fall lives in the Philadelphia suburbs with her husband and two daughters. She loves technology, science fiction, podcasts, logic puzzles, and graphic design. |
| Sotirios (Sam) Tsimikas, MD FEATURED SPEAKER University of California San Diego
Dr. Tsimikas is Professor of Medicine and Director of Vascular Medicine at the University of California San Diego. He obtained his MD degree in 1988 from the University of Massachusetts Medical School. He completed Internal Medicine training at the University of Massachusetts Medical Center in 1991, and fellowships in Cardiovascular Disease, Atherosclerosis and Molecular Medicine and Interventional Cardiology at the University of California San Diego from 1992-1997. Dr. Tsimikas’ clinical interests Vascular Medicine Program encompass treating patients in the continuum of high-risk primary prevention to endovascular intervention. He is currently on partial leave of absence as Cardiovascular Franchise Leader and Vice President of Clinical Development at Ionis Pharmaceuticals, Carlsbad, CA. |
| Zahid Ahmad, MD PANELIST University of Texas Southwestern Medical Center
Zahid Ahmad, M.D., is an Associate Professor in the Division of Endocrinology at UT Southwestern Medical Center. Dr. Ahmad’s clinical and investigative focus is lipid metabolism disorders, including dyslipidemia, chylomicronemia, and familial hypercholesterolemia (FH). His research aims to identify the causes of cholesterol and triglyceride disorders and to develop new treatment options for patients who suffer from them. Funded by the National Institutes of Health, Dr. Ahmad and his colleagues currently are working to identify families with these conditions in an effort to better understand their underlying genetic causes – and, ultimately, to improve patient outcomes. Dr. Ahmad has published a number of scholarly articles and delivered many invited lectures. Dr. Ahmad earned his medical degree at the Tulane University School of Medicine. He also holds a B.S. in biomedical engineering from the Tulane University School of Engineering. In 2019, Dr. Ahmad was named a Texas Monthly Super Doctor Rising Star. |
| Kiran Musunuru, MD, PhD, MPH, ML FEATURED SPEAKER Perelman School of Medicine at the University of Pennsylvania
Kiran Musunuru is an associate professor of cardiovascular medicine and genetics at the Perelman School of Medicine at the University of Pennsylvania, where he has made outstanding research contributions in the use of gene editing to study and treat cardiovascular disease. He was honored with the Presidential Early Career Award for Scientists and Engineers from the White House in 2016, the American Heart Association’s Award of Meritorious Achievement in 2016, and the American Philosophical Society’s Judson Daland Prize for Outstanding Achievement in Clinical Investigation in 2018. Dr. Musunuru received his M.D. from Weill Cornell Medical College, his Ph.D. from the Rockefeller University, and his MPH from the Johns Hopkins Bloomberg School of Public Health. Before joining Penn Medicine in 2016, Dr. Musunuru trained in internal medicine at Brigham and Women’s Hospital and cardiovascular medicine at Johns Hopkins Hospital, followed by postdoctoral work at Massachusetts General Hospital and the Broad Institute. |
| Debra Duquette, MS, CGC STEERING COMMITTEE MEMBER Michigan Department of Health and Human Services Northwestern Medicine
Debra Duquette, M.S., C.G.C. is a leader in educating the public on health genomics practices. She has authored many journal articles and is active in numerous committees. Duquette received her Masters of Science in Genetic Counseling from Northwestern University. Shortly after, she began her career in the field of reproductive genetic counseling working at the Detroit Medical Center followed by Spectrum Health. |
| Urh Groselj, MD, PhD STEERING COMMITTEE MEMBER Lipid Clinic, University Children’s Hospital Ljubljana Universal Cholesterol Screening Program, Slovenia Slovenian National Registry of Familial Hypercholesterolemia and Rare Dyslipidemias
Dr. Urh Groselj obtained MD and PhD degrees at the Faculty of Medicine, Uni- versity of Ljubljana and MA degree at the University of Leuven, Belgium. Since 2014 he works as a staff pediatrician at the Department of Pediatric Endocrinology, Diabetes and Metabolism, UMC – University Children’s Hospital Ljubljana, Slovenia. From 2015 he is an assistant professor of pediatrics at the Faculty of Medicine, University of Ljubljana, Slovenia. He also serves as a member of National Medical Ethics Committee. His main clinical and research interests include familial hypercholesterolemia, rare and secondary dyslipidemias and screening programs in pediatrics. Altogether, he (co)authored over 100 publications; some of them appearing in journals as JACC, Molecular Genetics and Metabolism, Journal of Inherited Metabolic Disorders, OJRD and Clinical Biochemistry. |
| Eric J.G. Sijbrands, MD, PhD STEERING COMMITTEE MEMBER Erasmus MC in Rotterdam, the Netherlands
Dr. Eric Sijbrands is a professor of vascular medicine at the Erasmus MC in Rotterdam, the Netherlands. He has been investigating cardiovascular genetics for 25 years with a focus on familial hypercholesterolemia (FH). Patients with an identical FH mutation can have completely different prognoses. Improving the risk assessment of FH patients is one of his ongoing projects. |
| Amy Sturm, MS, LGC STEERING COMMITTEE MEMBER National Society of Genetic Counselors/strong> Geisinger’s Genomic Medicine Institute
Amy Sturm is a Professor, and Director of Cardiovascular Genomic Counseling at In addition to advocating for genetic counselors as part of her multiples roles with NSGC, Amy also has been involved with advocacy and education for families with FH as part of her work with the FH Foun- dation. She has provided education to FHF advocates for awareness on topics including FH genetics, genetic counseling, and genetic testing. She has also worked to raise awareness of FH in the NSGC community, by providing a Janus series lecture at the 2013 NSGC Annual Conference on FH, writing blogs about FH and cascade testing, among other activities. She has also served as a patient advocate in formal roles with the Sudden Arrhythmia Death Syndromes Foundation (SADS), where she was a member of both their Medical Education and Research Committees. |
| Ruth McPherson, MD, PhD, FRCPC, FACP, FRCS PANELIST University of Ottawa Heart Institute Director of Lipid Clinic
Dr. McPherson received her PhD from the University of London (UK) and MD and subspecialty training in internal medicine and endocrinology and metabolism at the University of Toronto. She held academic positions at the University of Toronto and McGill University before coming to the University of Ottawa Heart Institute in 1992. She has held continuous peer-reviewed funding from multiple agencies including, CIHR, NIH and HSFC and has published over 260 manuscripts in peer-reviewed journals. Dr. McPherson’s laboratory research is centered on understanding of the genetic and genomics of two complex phenotypes, obesity and coronary artery disease. She directs the Lipid Clinic, Atherogenomics Laboratory & Ruddy Canadian Cardiovascular Genetics Centre at the Ottawa Heart Institute and is a key Canadian opinion leader in the area of clinical lipidology and cardiovascular risk reduction. Dr. McPherson was elected to fellowship in the Royal Society of Canada in 2014. She was awarded the George Lyman Duff Memorial Lectureship in 2018 by the American Heart Association and is the recent recipient of the UBC Margolese National Heart Disorders Prize. |
| Amit V. Khera, MD, MSc PANELIST Massachusetts General Hospital Massachusetts General Hospital Center for Genomic Medicine Broad Institute of MIT and Harvard Harvard Medical School
Amit V. Khera, MD, MSc, is a cardiologist at Massachusetts General Hospital (MGH), Associate Director of the Precision Medicine Unit in the MGH Center for Genomic Medicine, Associate Director of the Program in Medical and Population Genetics and Merkin Institute Fellow at the Broad Institute of MIT and Harvard, and Assistant Professor at Harvard Medical School.
He received his MD with Alpha Omega Alpha distinction from the Perelman School of Medicine at the University of Pennsylvania, and went on to complete clinical training in Internal Medicine and cardiology at Brigham and Women’s Hospital and MGH. He completed a Masters of Science at the Harvard School of Public Health, and a postdoctoral research fellowship with Dr. Sekar Kathiresan in human genetics at the Broad Institute of MIT and Harvard prior to accepting a faculty position.
His research program uses genetic variation as a tool to uncover new biology and enable enhanced clinical care informed by inherited susceptibility.
He has developed expertise in epidemiology, clinical medicine, and human genetics. Among his scientific contributions, he pioneered use of a new approach to quantify genetic risk (‘genome-wide polygenic scores’) for common diseases, developed biomarkers that provide new biologic insights, and analyzed large-scale gene sequencing data to highlight key pathways driving risk for cardiometabolic disease.
Dr. Khera has authored more than 60 scientific publications, including lead-authored publications in the New England Journal of Medicine, Journal of the American Medical Association, Cell, Nature Reviews Genetics, Nature Genetics, Journal of the American College of Cardiology, and Circulation. He is a 2017 recipient of the National Lipid Association Junior Faculty Award and the 2019 recipient of the Douglas P. Zipes Distinguished Young Scientist Award from the American College of Cardiology.
In tandem with his research efforts he is co-leading a new Preventive Genomics Clinic at MGH to provide a clinical infrastructure for genome-first medicine. |
| Barbara Harrison, MS, CGC PANELIST HU Center for Sickle Cell Disease Assistant Director for Community Outreach and Education
Mrs. Barbara Harrison, MS, CGC, graduated with a Bachelor’s degree in Biology from University of Maryland, College Park and received a Master’s degree in Genetic Counseling from University of Pittsburgh. She is certified by the American Board of Genetic Counselors. She is currently an Assistant Professor at Howard University and teaches graduate students, medical students, and medical residents in various specialties, in the areas of genetics, genetic testing, genetic counseling and ethics. In addition to her academic duties, she provides genetic counseling services at Howard University Hospital for a variety of referral reasons, in areas including prenatal (primary), pediatric, and adult genetics. She is the Assistant Director for Community Outreach and Education for the HU Center for Sickle Cell Disease. Professionally, she serves on the Diversity Task Force for the Accreditation Council of Genetic Counseling and is a member of the Prenatal Special Interest Group of the National Society of Genetic Counselors (NSGC). She was recently awarded the 2020 NSGC Natalie Weissberger Paul National Achievement Award, the organization’s most distinguished honor. In the community, Mrs. Harrison volunteers with the Sickle Cell Association of the National Capital Area, and is an active member of Metropolitan Baptist Church in Largo, MD. |
| Laney K. Jones, PharmD, MPH PANELIST Geisinger, Genomic Medicine Institute Assistant Professor
Laney K. Jones, PharmD, MPH, is an Assistant Professor in the Genomic Medicine Institute at Geisinger. She received her Doctor of Pharmacy degree from University of the Sciences in Philadelphia and her Master of Public Health from Mailman School of Public Health, Columbia University in New York City. She completed a two-year research fellowship at Geisinger prior to becoming faculty. She is an alumna of the Mentored Training in Implementation Science (MTIS) a K12 sponsored by the National Heart, Lung, and Blood Institute at Washington University in St. Louis. Her research interests include implementation science, familial hypercholesterolemia, and pharmacy services. Her current research projects focus on closing the know-do gap for the identification and treatment of individuals with familial hypercholesteremia by facilitating the implementation and sustainability of evidence-based programs. |
| Chloe Villavaso, MN, APRN PANELIST Section of Cardiology/Tulane University Heart & Vascular Institute Instructor of Medicine
Chloe Villavaso, MN, APRN, ACNS-BC, CMC, FPCNA is an individual with FH and Adult Health Clinical Nurse Specialist. She received a Master of Nursing from Louisiana State University Health Sciences Center and a Bachelor of Science in Nursing from Tuskegee University. Chloe currently holds a clinical faculty position with the Heart and Vascular Institute of Tulane University School of Medicine. Chloe’s interest in cardiac nursing started with a diagnosis of high cholesterol and a family history of premature cardiovascular disease. Chloe is a fellow of the Preventive Cardiovascular Nurses Association and serves as the president of the Crescent City (New Orleans) Chapter. |
| Ralph Muller PANELIST Seminal Health Fund (Philadelphia) Executive Chairman University of Pennsylvania Health System Former Chief Executive Officer
Ralph W. Muller is Executive Chairman of Seminal Health Fund (Philadelphia), National Advisor to Manatt, and Senior Fellow at LDI of Penn Medicine and Wharton (University of Pennsylvania). He is the retired chief executive officer, University of Pennsylvania Health System, where he served from 2003-2019. He was, from 1985 to 2001, the President of the University of Chicago Hospitals Muller is a Director of the National Committee for Quality Assurance (NCQA), the National Opinion Research Center(NORC) at the University of Chicago, and ECRI. He was a past Commissioner of the Joint Commission (TJC) and. the Medicare Payment Advisory Commission (MedPAC),and served as Chairman of the Association of American Medical Colleges (AAMC), Chairman of the Council of Teaching Hospitals and Health Systems (COTH), Chairman of the University Healthsystem Consortium (UHC) and Chairman of NORC. He is a member of the National Academy of Medicine (NAM) and a Fellow of the American Association for the Advancement of Science (AAAS), and he is Chairman of the Philadelphia Orchestra and a Trustee of WHYY (Philadelphia NPR). |
| Joshua W. Knowles, MD, PhD CO-CHAIR The FH Foundation Stanford University Medical Center Cardiovascular Medicine Fellowship Program The fundamental theme of my work is the application of genetics to improve human health. I view this as a continuum from Discovery > to the development of Model Systems > to clinical Translation > to larger Public Health efforts. Much of my work focuses on discovery of genetic vari- ants underlying cardiovascular disease, particularly coronary disease and insulin resistance through large international studies. We are now creating human induced pluripotent stem cell (iPSC) lines to model the genetic networks that produce disease. We are translating these findings to the clinic in a randomized trial where we are asking if we can improve an individual’s risk by giving them information about their inherited risk of heart disease. Finally, as the Chief Research Advisor for a patient-led, non-profit (The FH Foundation, www.thefhfoundation.org), we are attempting to raise the profile of familial hypercholesterolemia (FH), an inherited disease that causes extremely elevated LDL cholesterol levels and risk of coronary disease. We have partnered with patients and organizations like the CDC, ACC and AHA to increase public health awareness of FH and have established and currently manage a national FH registry called “CASCADE FH.” |
Mary P. McGowan, MD CO-HOST The FH Foundation Lipid Clinic at Dartmouth Hitchcock Heart and Vascular Center/strong>
Mary McGowan received her medical degree from the University of Massachusetts. She remained at the University of Massachusetts Medical Center for both internship and residency. She completed her fellowship at Johns Hopkins Hospital. Dr. McGowan is the Co-Director of the Lipid Clinic at Dartmouth Hitchcock Heart and Vascular Center. She is the author of numerous articles and five books. She has been the principal investigator on over 30 national and international clinical trials and has lectured widely in the United States, Canada, Europe and Asia on cholesterol metabolism. Dr. McGowan serves on the alumni board at the University of Massachusetts Medical Center and the National Lipid Association Foundation Board. She has previously served on the National Lipid Association Board of Directors, the NH Affiliate of the American Heart Association Board and was the first Chief Medical Officer of the Familial Hypercholesterolemia Foundation. Dr. McGowan lives in Bedford, NH with her husband. They have three children. |
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| Kathy Thompson PANELIST The FH Foundation Kathy Thompson is a volunteer FH Foundation Advocate for Awareness. Her experiences with advanced and early heart disease led her to advocate for awareness by sharing her personal story. She is an active 57 year old mother of two adult daughters, and she loves golf, hiking and travel. She has both FH and significantly elevated Lipoprotein(a) and uses medications and Lipoprotein Apheresis to treat her cholesterol levels. |
