Ana Morales, Allison Jamison, Robert A Hegele, Linda Hemphill, Samuel S Gidding
{"title":"个体化治疗是纯合子家族性高胆固醇血症患者的最佳选择。","authors":"Ana Morales, Allison Jamison, Robert A Hegele, Linda Hemphill, Samuel S Gidding","doi":"10.18103/mra.v12i12.6160","DOIUrl":null,"url":null,"abstract":"<p><p>Homozygous familial hypercholesterolemia (HoFH) is an autosomal semi-dominant condition characterized by biallelic pathogenic variants impacting low-density lipoprotein receptor (LDLR) function. Affected individuals have severely elevated LDL cholesterol, early onset atherosclerotic heart disease and/or aortic stenosis, and characteristic clinical findings. While the cause is known and diagnosis is relatively simple, real-world HoFH care presents many complexities, including genetic heterogeneity and the diverse personal and social circumstances that influence care. Genetics-informed treatment involves a trial-and-error approach that warrants specific considerations during pregnancy. Thus, HoFH care requires a deep understanding of personal factors, social determinants of health, and a flexible, adaptable approach to treatment, all of which justify the need for personalized care. Framed by complexity theory, this review offers strategies for personalizing HoFH care, including a reconceptualization of the definition of health and implementing a multidisciplinary team approach. We also recommend integrating complexity theory and systems thinking into clinical care. By doing so, we illustrate the advantages of classifying knowledge complexity to inform clinical decision-making. We also demonstrate how openness to relationship-building and time investment is critical to materializing personalized care to HoFH.</p>","PeriodicalId":94137,"journal":{"name":"Medical research archives","volume":"12 12","pages":""},"PeriodicalIF":0.0000,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12393222/pdf/","citationCount":"0","resultStr":"{\"title\":\"A Personalized Medicine Approach is Best for Patients with Homozygous Familial Hypercholesterolemia.\",\"authors\":\"Ana Morales, Allison Jamison, Robert A Hegele, Linda Hemphill, Samuel S Gidding\",\"doi\":\"10.18103/mra.v12i12.6160\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Homozygous familial hypercholesterolemia (HoFH) is an autosomal semi-dominant condition characterized by biallelic pathogenic variants impacting low-density lipoprotein receptor (LDLR) function. Affected individuals have severely elevated LDL cholesterol, early onset atherosclerotic heart disease and/or aortic stenosis, and characteristic clinical findings. While the cause is known and diagnosis is relatively simple, real-world HoFH care presents many complexities, including genetic heterogeneity and the diverse personal and social circumstances that influence care. Genetics-informed treatment involves a trial-and-error approach that warrants specific considerations during pregnancy. Thus, HoFH care requires a deep understanding of personal factors, social determinants of health, and a flexible, adaptable approach to treatment, all of which justify the need for personalized care. Framed by complexity theory, this review offers strategies for personalizing HoFH care, including a reconceptualization of the definition of health and implementing a multidisciplinary team approach. We also recommend integrating complexity theory and systems thinking into clinical care. By doing so, we illustrate the advantages of classifying knowledge complexity to inform clinical decision-making. We also demonstrate how openness to relationship-building and time investment is critical to materializing personalized care to HoFH.</p>\",\"PeriodicalId\":94137,\"journal\":{\"name\":\"Medical research archives\",\"volume\":\"12 12\",\"pages\":\"\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2024-12-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12393222/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Medical research archives\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.18103/mra.v12i12.6160\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2024/12/24 0:00:00\",\"PubModel\":\"Epub\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Medical research archives","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.18103/mra.v12i12.6160","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/12/24 0:00:00","PubModel":"Epub","JCR":"","JCRName":"","Score":null,"Total":0}
A Personalized Medicine Approach is Best for Patients with Homozygous Familial Hypercholesterolemia.
Homozygous familial hypercholesterolemia (HoFH) is an autosomal semi-dominant condition characterized by biallelic pathogenic variants impacting low-density lipoprotein receptor (LDLR) function. Affected individuals have severely elevated LDL cholesterol, early onset atherosclerotic heart disease and/or aortic stenosis, and characteristic clinical findings. While the cause is known and diagnosis is relatively simple, real-world HoFH care presents many complexities, including genetic heterogeneity and the diverse personal and social circumstances that influence care. Genetics-informed treatment involves a trial-and-error approach that warrants specific considerations during pregnancy. Thus, HoFH care requires a deep understanding of personal factors, social determinants of health, and a flexible, adaptable approach to treatment, all of which justify the need for personalized care. Framed by complexity theory, this review offers strategies for personalizing HoFH care, including a reconceptualization of the definition of health and implementing a multidisciplinary team approach. We also recommend integrating complexity theory and systems thinking into clinical care. By doing so, we illustrate the advantages of classifying knowledge complexity to inform clinical decision-making. We also demonstrate how openness to relationship-building and time investment is critical to materializing personalized care to HoFH.