Lipid testing with or without genetic testing of all first degree relatives, known as family cascade screening, should be encouraged for all individuals with FH because: Each first-degree relative of an individual with FH has a 50% chance of also having FH.10, Therapy should be initiated between the ages of 8-10 for children with heterozygous FH.8, As family cascade screening proceeds, newly identified FH cases provide additional relatives who should be considered for screening. He also holds a B.S. FH is a treatable disease. Familial hypercholesterolemia: screening, diagnosis and management of pediatric and adult patients: clinical guidance from the National Lipid Association Expert Panel on Familial Hypercholesterolemia… Since 2014 he works as a staff pediatrician at the Department of Pediatric Endocrinology, Diabetes and Metabolism, UMC – University Children’s Hospital Ljubljana, Slovenia. 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 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. Perelman School of Medicine at the University of Pennsylvania 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. 4-7 There are three major genetic loci linked to FH, with the majority (approximately 88%) of cases due to mutations in the LDL receptor (LDLR) gene. Establishing FH Awareness Day (September 24) worldwide; Establishing and maintaining the national CASCADE FH Registry, in partnership with 40 clinical sites, to collect comprehensive longitudinal data to better understand outcomes of FH diagnosis and treatment; Creating an international patient-facing Registry, accessible in multiple languages; Applying cutting-edge informatics and big data through the FIND FH program to identify and reach the 90% of undiagnosed FH individuals; Hosting an annual FH Global Summit for scientists, physicians, thought leaders and key stake- holders to share insights and best practices. © 2020 American College of Cardiology Foundation. FH is an autosomal dominant genetic condition, FH should be diagnosed in childhood and proactively treated. This notion was also endorsed by the International Atherosclerosis Society which placed high emphasis on LDL-C levels and subclinical disease in diagnosing FH.26, The question that arises then is, what is the utility of genetic testing? Her research interests include implementation science, familial hypercholesterolemia, and pharmacy services. Shortly after, she began her career in the field of reproductive genetic counseling working at the Detroit Medical Center followed by Spectrum 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. Director of Cardiovascular Genomic Counseling. Do you care for patients with FH? A commonly used screening strategy is known as cascade screening where LDL-C measurement, genetic testing, or both are done in consenting relatives of patients with FH. Chair, Department of Genetics. Dr. Eric Sijbrands is a professor of vascular medicine at the Erasmus MC in Rotterdam, the Netherlands. Her experiences with advanced and early heart disease led her to advocate for awareness by sharing her personal story. associate professor of cardiovascular medicine and genetics. Amy Sturm is a Professor, and Director of Cardiovascular Genomic Counseling at She received a Master of Nursing from Louisiana State University Health Sciences Center and a Bachelor of Science in Nursing from Tuskegee University. Even greater … Moreover, new lipid lowering therapies are on the horizon. This procedure can be cumbersome and involves venous access via needle stick, or in a small number of cases via indwelling catheter, with either weekly or biweekly sessions. Objective: To summarize the pathophysiology, epidemiology, screening, diagnosis, and treatment of familial hypercholesterolemia (FH). Dr. McGowan lives in Bedford, NH with her husband. Congenital Heart Disease and Pediatric Cardiology, Invasive Cardiovascular Angiography and Intervention, Pulmonary Hypertension and Venous Thromboembolism, CardioSource Plus for Institutions and Practices, Nuclear Cardiology and Cardiac CT Meeting on Demand, Annual Scientific Session and Related Events, ACC Quality Improvement for Institutions Program, National Cardiovascular Data Registry (NCDR). Her doctoral research focused on the interactions between diet and genetics as determinants for dyslipidemia in African Americans in the Jackson Heart Study. 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. Program Director, The fundamental theme of my work is the application of genetics to improve human health.