20 de outubro de 2020 , por
Familial hypercholesterolemia (FH) is an autosomal dominant genetic disease characterized by high levels of low-density lipoprotein-cholesterol (LDLc), associated to premature cardiovascular disease. He has been investigating cardiovascular genetics for 25 years with a focus on familial hypercholesterolemia (FH). She held academic positions at the University of Toronto and McGill University before coming to the University of Ottawa Heart Institute in 1992. Furthermore, not finding a genetic mutation does not exclude the diagnosis if there is strong phenotypic evidence.2, Once an individual is identified with FH it is important to also determine who else in the family is at risk. Objective: To summarize the pathophysiology, epidemiology, screening, diagnosis, and treatment of familial hypercholesterolemia (FH). From 2015 he is an assistant professor of pediatrics at the Faculty of Medicine, University of Ljubljana, Slovenia. As more individuals with FH are identified, the process repeats itself. Perelman School of Medicine at the University of Pennsylvania 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. He is known for his work in the metabolism and function of HDL (the ‘good cholesterol’). Goldberg AC, Hopkins PN, Toth PP, et al. $67 - to provide learning materials for patients and their families 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. Familial Hypercholesterolemia (FH) is an autosomal dominant condition that leads to extreme elevations in low density lipoprotein cholesterol (LDL-C). 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. Associate Director of the Precision Medicine Unit, Broad Institute of MIT and Harvard Family history is usually focused on first degree relatives with premature CV events (typically men <55; women <65). Mary McGowan received her medical degree from the University of Massachusetts. 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. Active in the FH Foundation, Dr. Ahmad also is a member of professional organizations that include the American Heart Association, Endocrine Society, National Lipid Association, and American Association of Clinical Endocrinologists. It is one of the only therapies shown to prolong survival in HoFH patients.35, Other nonstatin therapies such as niacin, bile acid sequestrants, fibrates, or apoB targeting therapies have very little evidence in FH. 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. 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. The frequency of HoFH is estimated at 1 in 300,000.4,6, However, the prevalence of HeFH and HoFH can also differ by ethnic groups. Familial hypercholesterolemia: screening, diagnosis and management of pediatric and adult patients: clinical guidance from the National Lipid Association Expert Panel on Familial Hypercholesterolemia… She completed a two-year research fellowship at Geisinger prior to becoming faculty. 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. Cardiologist, Massachusetts General Hospital Center for Genomic Medicine Lomitapide and Mipomersen can be prescribed in for patients with homozygous FH to reduce hepatic production and secretion of very low-density lipoproteins, especially if apheresis is not available. He has developed expertise in epidemiology, clinical medicine, and human genetics. Chloe Villavaso, MN, APRN, ACNS-BC, CMC, FPCNA is an individual with FH and Adult Health Clinical Nurse Specialist. Familial Hypercholesterolemia (FH) is an autosomal dominant condition that leads to extreme elevations in low density lipoprotein cholesterol (LDL-C).1 It can remain undiagnosed until a catastrophic cardiovascular (CV) event. The Centers for Disease Control and Prevention (CDC) has designated FH as a Tier 1 Genomic Application, indicating that FH poses a significant public health burden but there are clear hypercholesterolemia guidelines for management and prevention available.9. He was recruited to Penn in 1994. All rights reserved. She remained at the University of Massachusetts Medical Center for both internship and residency. Professor of Vascular Medicine. FH is a treatable disease. Aggressive lipid lowering is necessary to achieve the target LDL cholesterol reduction of at least 50% or more. Meghan Lane-Fall, MD, MSHP, FCCM is a physician-scientist committed to the provision of safe, effective patient care. FH is an autosomal dominant genetic condition, FH should be diagnosed in childhood and proactively treated. Several novel screening strategies using modern technology are being investigated to help improve identification. She is an active 57 year old mother of two adult daughters, and she loves golf, hiking and travel. Lipid Clinic, University Children’s Hospital Ljubljana As part of her volunteerism with NSGC she founded the Cardiovascular Genetics Special Interest Group and the FH Working Group and is also their Cardiovascular Genetics Expert for the NSGC Expert Media Panel. 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. Patients with a DLCNS ≥6 should be advised they have a phenotypic diagnosis of FH. 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. Chloe is a fellow of the Preventive Cardiovascular Nurses Association and serves as the president of the Crescent City (New Orleans) Chapter. For instance, Finns, French-Canadians, Afrikaners, and Christian Lebanese population have higher prevalence of FH.7, Racial differences also exist as African American groups have a higher prevalence than Hispanics and Caucasians.8 The distribution between men and women appears similar, although men tend to have CV events earlier than women.8,9, In general, patients with FH have elevated LDL-C from an early age, and therefore have earlier manifestations of cardiovascular disease.10-13 Studies in children with FH have shown greater carotid intimal thickness by age 8 compared to unaffected children.14 Other studies have shown that up to 25% of adolescents with FH have coronary artery calcifications.15,16, At the population level, patients with FH have at least a three times higher prevalence of atherosclerotic disease than unaffected people.17,18 The process of atherosclerotic cardiovascular disease is even more accelerated in HoFH patients where the first CV event can occur before the age of 30.19. Emerging new LDL lowering therapies such as bempedoic acid (especially when given in combination with ezetimibe) and inclisiran appear promising.36,37. His main clinical and research interests include familial hypercholesterolemia, rare and secondary dyslipidemias and screening programs in pediatrics. His research program uses genetic variation as a tool to uncover new biology and enable enhanced clinical care informed by inherited susceptibility. Daniel Rader, MD is the Seymour Gray Professor of Molecular Medicine and Chair of the Department of Genetics at the Perelman School of Medicine. Kathy Thompson is a volunteer FH Foundation Advocate for Awareness. 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. University of Texas Southwestern Medical Center 1 FH is commonly diagnosed based on clinical criteria; however, there is genetic testing available. The FH Foundation Quality of evidence: A PubMed search was conducted (inception to July 2014) for articles on pathophysiology, screening, diagnosis, and management of FH, supplemented with hand searches of bibliographies of guidelines and reviews. Shortly after, she began her career in the field of reproductive genetic counseling working at the Detroit Medical Center followed by Spectrum Health. 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. The genetic test should identify mutations in the low-density lipoprotein reception (LDLR) gene, the apolipoprotein B (apoB), or the proprotein convertase subtilisin/kexin (PCSK9) genes.1, Family history of early cardiac events + High cholesterol, The presence of xanthomas, corneal arcus and xanthelasmas before the age of 60 are highly suggestive of FH, more specifically homozygous FH (HoFH), although sitosterolemia should be ruled out as a cause.6 Individuals affected by homozygous FH possess two mutant alleles at the LDLR, ApoB, PCSK9 or LDLRAP1 gene loci.1,6 Individuals may also be genetically compound heterozygotes but may phenotypically look homozygous with severely elevated LDL-C and physical symptoms.1,6 Assessment of family history of high LDL-C and premature coronary heart disease is crucial for HoFH diagnosis.6. Since 2014 he works as a staff pediatrician at the Department of Pediatric Endocrinology, Diabetes and Metabolism, UMC – University Children’s Hospital Ljubljana, Slovenia. Dr. Ahmad earned his medical degree at the Tulane University School of Medicine. 1 FH is characterized by lifelong elevation of low‐density … 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. Homozygous Familial Hypercholesterolemia, Congenital Heart Disease and Pediatric Cardiology, Invasive Cardiovascular Angiography and Intervention, Pulmonary Hypertension and Venous Thromboembolism. In 2013 his lab developed a targeted next-generation DNA sequencing panel for diagnosis of FH and other genetic dyslipidemias. Thus, the phenotype itself may be more important than the genotype to establish a diagnosis and justify treatment. Ruth McPherson, MD, PhD, FRCPC, FACP, FRCS. Erasmus MC in Rotterdam, the Netherlands Dr. Groselj is currently leading the Lipid Clinic at the UMC – University Children’s Hospital Ljubljana, Slovenia, and directing the Universal cholesterol screening program in Slovenia (which is performed nationwide in all five year old children). National Society of Genetic Counselors/strong> 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. The most predominant mutation in FH involves the low density lipoprotein receptor (LDLR) gene, resulting in a defective LDLR for the metabolism of LDL-C.2 Less commonly, there are mutations in the genes of molecules that interact with the LDLR such as apolipoprotein B (apoB) or proprotein convertase subtilisin-kexin type 9 (PCSK9), which also lead elevated plasma LDL-C (Figure 1).2,3 Furthermore, several genes remain unidentified, but clinically have the same result.2, As noted, FH is an autosomal dominant condition. 220 individuals globally been a champion of ‘ Genomic Medicine Institute at Geisinger Genome research Institute: Learning. Defects of LDL metabolism ( Table 1 ) effect, there are mutations. And familial hypercholesterolemia ( FH ) approaches for treatment of familial hypercholesterolemia ( FH ) is a common yet autosomal. Compa- nies related to his work from 2015 he is the Assistant Director for Community Outreach and education for HU... 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