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Comparative study between a Logistic Regression Model and Simon Broome Criteria for the Diagnosis of Pediatric Patients with Familial Hypercholesterolemia

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Introduction: Familial Hypercholesterolemia (FH) is an inherited disorder of lipid metabolism, resulting in severe dyslipidemia and increased cardiovascular disease risk. Simon Broome (SB) criteria for the diagnostic of FH are among the most frequently used in clinical setting, and are based on elevated total cholesterol (TC) and low density lipoprotein cholesterol (LDLc) levels, presence of tendinous xanthomas and family history, although only genetic testing can confirm the diagnosis [1]. According to the Portuguese FH Study, only around 42% of the patients with clinical criteria reveal a positive diagnostic for FH [2], a high false positive rate that represents a heavy burden in terms of healthcare costs. The main purpose of this work was to develop an alternative classification method for FH diagnosis based on a logistic regression (LR) model, using several biochemical indicators as predictor variables. For this purpose, different operating characteristics (OC) were compared between both models, through bootstrap resampling techniques.

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Familial Hypercholesterolemia Portuguese FH Study Cholesterol Doenças Cardio e Cérebro-vasculares

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Instituto Nacional de Saúde Doutor Ricardo Jorge, IP