Características Clínicas, Antropométricas e Bioquímicas de Pacientes com ou sem Diagnóstico Confirmado de Hipercolesterolemia Familiar
Características Clínicas, Antropométricas e Bioquímicas de Pacientes com ou sem Diagnóstico Confirmado de Hipercolesterolemia Familiar
Data
2018
Autores
De Lorenzo, Andrea
Silva, Juliana Duarte Lopes da
James, Cinthia E.
Pereira, Alexandre C.
Moreira, Annie Seixas Bello
Journal Title
Journal ISSN
Volume Title
Publisher
Arquivos Brasileiros de Cardiologia
Resumo
Fundamentos: A hipercolesterolemia familiar (HF) é uma doença autossômica dominante, caracterizada por altos níveis plasmáticos do colesterol da lipoproteína de baixa densidade (LDL-C) e pelo alto risco de desenvolvimento prematuro de doenças cardiovasculares. Objetivo: Avaliar características clínicas e antropométricas de pacientes com fenótipo para hipercolesterolemia familiar (HF), com ou sem diagnóstico genético de HF. Métodos: Quarenta e cinco pacientes com LDL-C > 190 mg/dL foram genotipados para seis genes relacionados com a HF: LDLR, APOB, PCSK9, LDLRAP1, LIPA e APOE. Pacientes que apresentaram resultado positivo para qualquer uma das mutações foram diagnosticados com HF por confirmação genética. O fenótipo para HF foi classificado pelo critério da Dutch Lipid Clinic Network. Resultados: Comparando os pacientes com a HF geneticamente confirmada com aqueles sem a confirmação, os primeiros apresentaram maior pontuação do escore para HF, uma maior frequência de xantelasma e maiores níveis de LDL-C e apo B. Houve correlações significativas entre o LDL-C e a pontuação do escore para HF (R = 0,382, p = 0,037) e entre LDL-C e gordura corporal (R = 0,461, p = 0,01). Os pacientes com mutações, no entanto, não apresentaram qualquer correlação entre o LDL-C e outras variáveis, enquanto aqueles sem mutação apresentaram correlação entre o LDL-C e a pontuação do escore. Conclusão: O LDL-C correlacionou-se com a pontuação do escore e com a gordura corporal, tanto na população total de pacientes quanto nos pacientes sem a confirmação genética de HF. Naqueles com HF geneticamente confirmada, não houve correlação entre o LDL-C e outras variáveis clínicas ou bioquímicas dos pacientes.
Background: Familial hypercholesterolemia (FH) is a common autosomal dominant disorder, characterized by a high level of low-density lipoprotein cholesterol (LDL-C) and a high risk of premature cardiovascular disease. Objective: To evaluate clinical and anthropometric characteristics of patients with the familiar hypercholesterolemia (FH) phenotype, with or without genetic confirmation of FH. Methods: Forty-five patients with LDL-C > 190 mg/dl were genotyped for six FH-related genes: LDLR, APOB, PCSK9, LDLRAP1, LIPA and APOE. Patients who tested positive for any of these mutations were considered to have genetically confirmed FH. The FH phenotype was classified according to the Dutch Lipid Clinic Network criteria. Results: Comparing patients with genetically confirmed FH to those without it, the former had a higher clinical score for FH, more often had xanthelasma and had higher LDL-C and apo B levels. There were significant correlations between LDL-C and the clinical point score for FH (R = 0.382, p = 0.037) and between LDL-C and body fat (R = 0.461, p = 0.01). However, patients with mutations did not have any correlation between LDL-C and other variables, while for those without a mutation, there was a correlation between LDL-C and the clinical point score. Conclusions: LDL-C correlated with the clinical point score and with body fat, both in the overall patient population and in patients without the genetic confirmation of FH. In those with genetically confirmed FH, there were no correlations between LDL-C and other clinical or biochemical variables in patients.
Background: Familial hypercholesterolemia (FH) is a common autosomal dominant disorder, characterized by a high level of low-density lipoprotein cholesterol (LDL-C) and a high risk of premature cardiovascular disease. Objective: To evaluate clinical and anthropometric characteristics of patients with the familiar hypercholesterolemia (FH) phenotype, with or without genetic confirmation of FH. Methods: Forty-five patients with LDL-C > 190 mg/dl were genotyped for six FH-related genes: LDLR, APOB, PCSK9, LDLRAP1, LIPA and APOE. Patients who tested positive for any of these mutations were considered to have genetically confirmed FH. The FH phenotype was classified according to the Dutch Lipid Clinic Network criteria. Results: Comparing patients with genetically confirmed FH to those without it, the former had a higher clinical score for FH, more often had xanthelasma and had higher LDL-C and apo B levels. There were significant correlations between LDL-C and the clinical point score for FH (R = 0.382, p = 0.037) and between LDL-C and body fat (R = 0.461, p = 0.01). However, patients with mutations did not have any correlation between LDL-C and other variables, while for those without a mutation, there was a correlation between LDL-C and the clinical point score. Conclusions: LDL-C correlated with the clinical point score and with body fat, both in the overall patient population and in patients without the genetic confirmation of FH. In those with genetically confirmed FH, there were no correlations between LDL-C and other clinical or biochemical variables in patients.
Description
Palavras-chave
Hiperlipoproteinemia Tipo II, Pesos e Medidas Corporais, Lipoproteínas LDL, Dislipidemias, Mutação, Fenótipo, Hyperlipoproteinemia Type II, Body Weights and Measurements, LDL Lipoproteins, Dyslipidemias, Mutation, Phenotype
Citação
Lorenzo AD, Silva JDP, James CE, Pereira AC, Moreira ASB. Características Clínicas, Antropométricas e Bioquímicas de Pacientes com ou sem Diagnóstico Confirmado de Hipercolesterolemia Familiar. Arq Bras Cardiol. 2018;110(2):119-123.