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Article

The familial hypercholesterolaemia phenotype: Monogenic familial hypercholesterolaemia, polygenic hypercholesterolaemia and other causes.

Clinical genetics - 1 Mar 2020

Mariano Cibelle, Alves Ana Catarina, Medeiros Ana Margarida, Chora Joana Rita, Antunes Marília, Futema Marta, Humphries Steve E, Bourbon Mafalda

Abstract excerpt

Familial hypercholesterolaemia (FH) is a monogenic disorder characterised by high low-density lipoprotein cholesterol (LDL-C) concentrations and increased cardiovascular risk. However, in clinically defined FH cohorts worldwide, an FH-causing variant is only found in 40%-50% of the cases. The aim of this work was to characterise the genetic cause of the FH phenotype in Portuguese clinical FH patients. Between...

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Share to Apolipoprotein B-100
Share to Cholesterol, LDL

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hyperlipoproteinemia Type II

Share to Lipid Metabolism, Inborn Errors

Share to Multifactorial Inheritance

Share to Proprotein Convertase 9

Share to Receptors, LDL

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PMID: 31893465
DOI: 10.1111/cge.13697

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