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Familial hypercholesterolemia
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Genetic disorder characterized by high cholesterol levels
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Subclasses
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autosomal recessive hypercholesterolemia
familial hypercholesterolemia characterized by autosomal inheritance that has material basis in homozygous mutation in the LDLRAP1 gene on chromosome 1p36
homozygous familial hypercholesterolemia
human disease
Subject of
12
Inclisiran for the Treatment of Heterozygous Familial Hypercholesterolemia
scientific article published on 18 March 2020
Familial hypercholesterolemia: stroke and the broader perspective
Health economic evaluation of screening and treating children with familial hypercholesterolemia early in life: Many happy returns on investment?
scientific article published on 20 May 2020
A frequent variant in the ABCA1 gene is associated with increased coronary heart disease risk and a better response to statin treatment in familial hypercholesterolemia patients
article
Recall by genotype and cascade screening for familial hypercholesterolemia in a population-based biobank from Estonia
scientific article published on 01 October 2018
Letter by Natale et al Regarding Article, "Predicting Cardiovascular Events in Familial Hypercholesterolemia: The SAFEHEART Registry (Spanish Familial Hypercholesterolemia Cohort Study)".
scientific article
A systematic review of current studies in patients with familial hypercholesterolemia by use of national familial hypercholesterolemia registries
scientific article published on 8 April 2016
Familial hypercholesterolemia: screening, diagnosis and management of pediatric and adult patients: clinical guidance from the National Lipid Association Expert Panel on Familial Hypercholesterolemia
scientific article
Predicting Cardiovascular Events in Familial Hypercholesterolemia: The SAFEHEART Registry (Spanish Familial Hypercholesterolemia Cohort Study).
scientific article published on 08 March 2017
Treatment of adults with familial hypercholesterolemia and evidence for treatment: recommendations from the National Lipid Association Expert Panel on Familial Hypercholesterolemia
scientific article published on 03 April 2011
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Familial hypercholesterolemia (FH) is a genetic disorder characterized by high cholesterol levels, specifically very high levels of low-density lipoprotein cholesterol (LDL cholesterol), in the blood and early cardiovascular diseases. The most common mutations diminish the number of functional LDL receptors in the liver or produce abnormal LDL...

Instance of
designated intractable/rare disease
Rare disease
class of disease
Subclass of
Hypercholesterolemia
Disease
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