Consensus document on diagnosis and management of familial hypercholesterolemia from the Italian Society for the Study of Atherosclerosis (SISA).
Nutr Metab Cardiovasc Dis
; 34(8): 1819-1836, 2024 Aug.
Article
em En
| MEDLINE
| ID: mdl-38871496
ABSTRACT
AIMS:
Familial Hypercholesterolemia (FH) is a genetic disorder of lipoprotein metabolism that causes an increased risk of premature atherosclerotic cardiovascular disease (ASCVD). Although early diagnosis and treatment of FH can significantly improve the cardiovascular prognosis, this disorder is underdiagnosed and undertreated. For these reasons the Italian Society for the Study of Atherosclerosis (SISA) assembled a Consensus Panel with the task to provide guidelines for FH diagnosis and treatment. DATASYNTHESIS:
Our guidelines include i) an overview of the genetic complexity of FH and the role of candidate genes involved in LDL metabolism; ii) the prevalence of FH in the population; iii) the clinical criteria adopted for the diagnosis of FH; iv) the screening for ASCVD and the role of cardiovascular imaging techniques; v) the role of molecular diagnosis in establishing the genetic bases of the disorder; vi) the current therapeutic options in both heterozygous and homozygous FH. Treatment strategies and targets are currently based on low-density lipoprotein cholesterol (LDL-C) levels, as the prognosis of FH largely depends on the magnitude of LDL-C reduction achieved by lipid-lowering therapies. Statins with or without ezetimibe are the mainstay of treatment. Addition of novel medications like PCSK9 inhibitors, ANGPTL3 inhibitors or lomitapide in homozygous FH results in a further reduction of LDL-C levels. LDL apheresis is indicated in FH patients with inadequate response to cholesterol-lowering therapies.CONCLUSION:
FH is a common, treatable genetic disorder and, although our understanding of this disease has improved, many challenges still remain with regard to its identification and management.Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Fenótipo
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Biomarcadores
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Valor Preditivo dos Testes
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Predisposição Genética para Doença
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Consenso
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Hiperlipoproteinemia Tipo II
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LDL-Colesterol
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Anticolesterolemiantes
Limite:
Humans
País/Região como assunto:
Europa
Idioma:
En
Revista:
Nutr Metab Cardiovasc Dis
Assunto da revista:
ANGIOLOGIA
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CARDIOLOGIA
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CIENCIAS DA NUTRICAO
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METABOLISMO
Ano de publicação:
2024
Tipo de documento:
Article