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Publicação
Genetic Testing in Familial Hypercholesterolemia: Is It for Everyone?
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Orientador(es)
Resumo(s)
Purpose of Review:
Lipid measurements and genetic testing are the main diagnostic tools for FH screening that are available in many countries. A lipid profile is widely accessible, and genetic testing, although available worldwide, in some countries is only performed in a research context. Still FH is diagnosed late, showing lack of early screening programs worldwide.
Recent Findings:
Pediatric screening of FH was recently recognized by the European Commission Public Health Best Practice Portal as one on the best practices in non-communicable disease prevention. The early diagnosis of FH and the lowering of LDL-C values over lifespan can reduce the risk of coronary artery disease and offer health and socioeconomic gains.
Summary:
Current knowledge about FH shows that early detection through appropriate screening needs to become a priority in healthcare systems worldwide. Governmental programs for FH identification should be implemented to unify the diagnosis and increase patient identification.
Descrição
Review
Palavras-chave
Familial hypercholesterolemia FH Dyslipidemia LDLR FH Screening High Cholesterol Hipercolesterolemia Familiar Colesterol Doenças Cardio e Cérebro-vasculares
Contexto Educativo
Citação
Curr Atheroscler Rep. 2023 Apr;25(4):127-132. doi: 10.1007/s11883-023-01091-5. Epub 2023 Mar 2. Review
Editora
Springer