There are two forms of Familial Hypercholesterolemia (FH):
The most serious and more rare form of FH is HoFH. It is estimated to affect as many as 1 in 300,000 people all over the world. Untreated, HoFH often causes heart disease (heart attacks and aortic valve disease) beginning in the early teen years and sometimes earlier in life. While FH is common, HoFH is a rare disorder. Lives can be saved if it is identified and treated early.
The low-density lipoprotein cholesterol (LDL-C, “bad cholesterol”) level is typically between 400-1000 mg/dL ⎯ over 4 times the normal level - if untreated.
HoFH is a family disorder and affects both children and adults. A person who has HoFH has inherited two FH genes, one from both parents. Learn more by viewing the HoFH Pedigree.
HoFH can be diagnosed with a simple blood test, a physical exam, and family history. The signs and symptoms of HoFH, including the level of LDL-C, vary from person to person. HoFH may be confirmed with genetic testing.
Signs and symptoms of HoFH include:
HoFH is a family disorder. A person who has HoFH has inherited two FH genes, one from each parent.
Individuals with HoFH have LDL cholesterol levels over 400 mg/dL, and often much higher at birth.
Xanthelasmas and xanthomas are cholesterol deposits that are found under the skin or around the eyes.
Corneal Arcus is a half-circle of gray, white, or yellow cholesterol deposits in the outer edge of the cornea.
Homozygous Familial Hypercholesterolemia is Severe
There are multiple treatments for FH available today and several more in development.
Learn More
The FH Foundation hosts an online support group for individuals and family members affected by HoFH.
Join our community
HoFH is a complicated, life-threatening medical condition that requires an FH specialist's care.
Find Now
References
Nordestgaard BG, et al. Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease: Consensus Statement of the European Atherosclerosis Society. European heart journal 2013.
Raal FJ, Santos RD. Homozygous familial hypercholesterolemia: Current perspectives on diagnosis and treatment. Atherosclerosis 2012;223:262-8.
Watts GF, et al. Integrated guidance on the care of familial hypercholesterolemia from the International FH Foundation. International Journal of Cardiology 2013.
Cuchel M, et al. Homozygous familial hypercholesterolemia: new insights and guidance for clinicians to improve detection and clinical management. A position paper from the Consensus Panel on Familial Hypercholesterolemia of the European Atherosclerosis Society. Eur Heart J
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| 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. |
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Joshua W. Knowles, MD, PhD
CO-CHAIR 2020 FH Global Summit 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.” |
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Daniel J. Rader, MD
CO-CHAIR 2020 FH Global Summit 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. |
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Katherine A. Wilemon
CO-HOST 2020 FH Global Summit 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. |
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Mary P. McGowan, MD
CO-HOST 2020 FH Global Summit 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. |
| 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.
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| 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. |
| Meghan Lane-Fall, MD, MSHP
FEATURED SPEAKER Session 6
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 of evidence-based practice. Dr. Lane-Fall is the founding Co-director of the Center for Perioperative Outcomes Research and Transformation and Associate Professor of anesthesiology and critical care 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. Her work is best characterized as healthcare delivery science, falling at the intersection of implementation science and improvement science. Dr. Lane-Fall is also interested in building research capacity in health services research; she mentors research fellows and clinical trainees and is the co-course director of Penn’s graduate level Implementation Science course. 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 Masters of Science in Health Policy Research. She was elected to the Association of University Anesthesiologists in 2015 and to the Anesthesia Patient Safety Foundation Board of Directors in 2017. Dr. Lane-Fall lives in the Philadelphia suburbs with her husband and two daughters. She loves technology, science fiction, podcasts, and logic puzzles, and dabbles in graphic design. |
| Sotirios (Sam) Tsimikas, MD
FEATURED SPEAKER Session 4
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. |
| Kiran Musunuru, MD, PhD, MPH, ML
FEATURED SPEAKER Session 5
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. |
