A Real-World Experience of Clinical, Biochemical and Genetic Assessment of Patients with Homozygous Familial Hypercholesterolemia

A Real-World Experience of Clinical, Biochemical and Genetic Assessment of Patients with Homozygous Familial Hypercholesterolemia

Homozygous familial hypercholesterolemia (HoFH), the severest form of familial hypercholesterolemia (FH), is characterized by very high LDL-cholesterol levels and a high frequency of coronary heart disease. The disease is caused by the presence of either a pathogenic variant at homozygous status or...

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Bibliographic Details
Main Authors: Maria Donata Di Taranto, Carola Giacobbe, Alessio Buonaiuto, Ilenia Calcaterra, Daniela Palma, Giovanna Maione, Gabriella Iannuzzo, Matteo Nicola Dario Di Minno, Paolo Rubba, Giuliana Fortunato
Format: Article
Language:English
Published: MDPI AG 2020-01-01
Series:Journal of Clinical Medicine
Subjects:
homozygous familial hypercholesterolemia (hofh)
<i>ldlr</i> pathogenic variants
genetic screening
ldl-cholesterol
coronary heart disease
familial hypercholesterolemia prevalence
Online Access:https://www.mdpi.com/2077-0383/9/1/219

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