{"title":"家族性高胆固醇血症级联:通往普及筛查之路","authors":"","doi":"10.1016/j.jacl.2024.04.071","DOIUrl":null,"url":null,"abstract":"<div><h3>Background/Synopsis</h3><p>The Atlantic Medical Group Lipid Workgroup at Atlantic Health System is composed of both adult and pediatric cardiologists, internists, endocrinologists and nephrologists. The goal of the workgroup is to address the need for optimal cardiometabolic diagnosis and treatment. Because familial hypercholesterolemia (FH) is dominantly inherited, cascade screening of family members can be highly effective.</p></div><div><h3>Objective/Purpose</h3><p>To highlight the benefits of collaboration of adult and pediatric specialties for the diagnosis and treatment of FH.</p></div><div><h3>Methods</h3><p>38-year-old female with a strong family history of early CAD, very high cholesterol levels and xanthelasmas presented to us to establish care. Her two children were diagnosed genetically with FH at age 3 and 6 with cholesterol levels of 269 mg/dL and > 400 mg/dL, respectively. She was initiated on treatment with a statin. Her twin sister was also evaluated and found to have high cholesterol levels and xanthelasmas. This sister's children were also suspected of having FH and were referred to a pediatric cardiologist for diagnosis and treatment.</p></div><div><h3>Results</h3><p>The children of the index patient were found to be heterozygous for deletion (exon17-18) LDLR gene, pathologic for FH.</p></div><div><h3>Conclusions</h3><p>The collaborative efforts of adult and pediatric specialists make the Atlantic Medical Group Lipid workgroup unique. Through this program, cascade and reverse cascade screening is utilized to identify and diagnose individuals at risk for familial hypercholesterolemia. Identification of an index patient with FH with effective screening of relatives combines the benefits of universal and cascade screening and has the potential of detecting all living cases of FH. Basseling et al found that although capable of identifying asymptomatic individuals with hypercholesterolemia, the cost effectiveness of universal screening has not yet been determined and cascade screening has proven to be more cost effective than any other screening strategy currently available thus far.</p></div>","PeriodicalId":15392,"journal":{"name":"Journal of clinical lipidology","volume":null,"pages":null},"PeriodicalIF":3.6000,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Familial Hypercholesterolemia Cascade: On the Road to Universal Screening\",\"authors\":\"\",\"doi\":\"10.1016/j.jacl.2024.04.071\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div><h3>Background/Synopsis</h3><p>The Atlantic Medical Group Lipid Workgroup at Atlantic Health System is composed of both adult and pediatric cardiologists, internists, endocrinologists and nephrologists. The goal of the workgroup is to address the need for optimal cardiometabolic diagnosis and treatment. Because familial hypercholesterolemia (FH) is dominantly inherited, cascade screening of family members can be highly effective.</p></div><div><h3>Objective/Purpose</h3><p>To highlight the benefits of collaboration of adult and pediatric specialties for the diagnosis and treatment of FH.</p></div><div><h3>Methods</h3><p>38-year-old female with a strong family history of early CAD, very high cholesterol levels and xanthelasmas presented to us to establish care. Her two children were diagnosed genetically with FH at age 3 and 6 with cholesterol levels of 269 mg/dL and > 400 mg/dL, respectively. She was initiated on treatment with a statin. Her twin sister was also evaluated and found to have high cholesterol levels and xanthelasmas. This sister's children were also suspected of having FH and were referred to a pediatric cardiologist for diagnosis and treatment.</p></div><div><h3>Results</h3><p>The children of the index patient were found to be heterozygous for deletion (exon17-18) LDLR gene, pathologic for FH.</p></div><div><h3>Conclusions</h3><p>The collaborative efforts of adult and pediatric specialists make the Atlantic Medical Group Lipid workgroup unique. Through this program, cascade and reverse cascade screening is utilized to identify and diagnose individuals at risk for familial hypercholesterolemia. Identification of an index patient with FH with effective screening of relatives combines the benefits of universal and cascade screening and has the potential of detecting all living cases of FH. Basseling et al found that although capable of identifying asymptomatic individuals with hypercholesterolemia, the cost effectiveness of universal screening has not yet been determined and cascade screening has proven to be more cost effective than any other screening strategy currently available thus far.</p></div>\",\"PeriodicalId\":15392,\"journal\":{\"name\":\"Journal of clinical lipidology\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":3.6000,\"publicationDate\":\"2024-07-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Journal of clinical lipidology\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://www.sciencedirect.com/science/article/pii/S1933287424001181\",\"RegionNum\":3,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q2\",\"JCRName\":\"PHARMACOLOGY & PHARMACY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of clinical lipidology","FirstCategoryId":"3","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S1933287424001181","RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"PHARMACOLOGY & PHARMACY","Score":null,"Total":0}
Familial Hypercholesterolemia Cascade: On the Road to Universal Screening
Background/Synopsis
The Atlantic Medical Group Lipid Workgroup at Atlantic Health System is composed of both adult and pediatric cardiologists, internists, endocrinologists and nephrologists. The goal of the workgroup is to address the need for optimal cardiometabolic diagnosis and treatment. Because familial hypercholesterolemia (FH) is dominantly inherited, cascade screening of family members can be highly effective.
Objective/Purpose
To highlight the benefits of collaboration of adult and pediatric specialties for the diagnosis and treatment of FH.
Methods
38-year-old female with a strong family history of early CAD, very high cholesterol levels and xanthelasmas presented to us to establish care. Her two children were diagnosed genetically with FH at age 3 and 6 with cholesterol levels of 269 mg/dL and > 400 mg/dL, respectively. She was initiated on treatment with a statin. Her twin sister was also evaluated and found to have high cholesterol levels and xanthelasmas. This sister's children were also suspected of having FH and were referred to a pediatric cardiologist for diagnosis and treatment.
Results
The children of the index patient were found to be heterozygous for deletion (exon17-18) LDLR gene, pathologic for FH.
Conclusions
The collaborative efforts of adult and pediatric specialists make the Atlantic Medical Group Lipid workgroup unique. Through this program, cascade and reverse cascade screening is utilized to identify and diagnose individuals at risk for familial hypercholesterolemia. Identification of an index patient with FH with effective screening of relatives combines the benefits of universal and cascade screening and has the potential of detecting all living cases of FH. Basseling et al found that although capable of identifying asymptomatic individuals with hypercholesterolemia, the cost effectiveness of universal screening has not yet been determined and cascade screening has proven to be more cost effective than any other screening strategy currently available thus far.
期刊介绍:
Because the scope of clinical lipidology is broad, the topics addressed by the Journal are equally diverse. Typical articles explore lipidology as it is practiced in the treatment setting, recent developments in pharmacological research, reports of treatment and trials, case studies, the impact of lifestyle modification, and similar academic material of interest to the practitioner. While preference is given to material of immediate practical concern, the science that underpins lipidology is forwarded by expert contributors so that evidence-based approaches to reducing cardiovascular and coronary heart disease can be made immediately available to our readers. Sections of the Journal will address pioneering studies and the clinicians who conduct them, case studies, ethical standards and conduct, professional guidance such as ATP and NCEP, editorial commentary, letters from readers, National Lipid Association (NLA) news and upcoming event information, as well as abstracts from the NLA annual scientific sessions and the scientific forums held by its chapters, when appropriate.