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Familial hypercholesterolaemia

Defesche, Joep C., Gidding, Samuel S., Harada-Shiba, Mariko, Hegele, Robert A., Santos, Raul D., Wierzbicki, Anthony S.·2017·Nature Reviews Disease Primers
DOI 10.1038/nrdp.2017.93
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Abstract

Familial hypercholesterolaemia is a common inherited disorder characterized by abnormally elevated serum levels of low-density lipoprotein (LDL) cholesterol from birth, which in time can lead to cardiovascular disease (CVD). Most cases are caused by autosomal dominant mutations in LDLR, which encodes the LDL receptor, although mutations in other genes coding for proteins involved in cholesterol metabolism or LDLR function and processing, such as APOB and PCSK9, can also be causative, although less frequently. Several sets of diagnostic criteria for familial hypercholesterolaemia are available; common diagnostic features are an elevated LDL cholesterol level and a family history of hypercholesterolaemia or (premature) CVD. DNA-based methods to identify the underlying genetic defect are desirable but not essential for diagnosis. Cascade screening can contribute to early diagnosis of the disease in family members of an affected individual, which is crucial because familial hypercholesterolaemia can be asymptomatic for decades. Clinical severity depends on the nature of the gene that harbours the causative mutation, among other factors, and is further modulated by the type of mutation. Lifelong LDL cholesterol-lowering treatment substantially improves CVD-free survival and longevity. Statins are the first-line therapy, but additional drugs, such as ezetimibe, bile acid sequestrants, PCSK9 inhibitors and other emerging therapies, are often required.

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  • Over 95% of HoFH patients have loss-of-function mutations in both LDLR alleles.

    “over 95% of HoFH patients have loss-of-function mutations in both LDLR alleles (Defesche et al., 2017)”

    From GPR146 Deficiency Protects against Hypercholesterolemia and Atherosclerosis (2019) · cites this paper as Defesche et al., 2017

  • HoFH patients have markedly diminished response to statins and PCSK9 inhibitors because their lipid-lowering effects require upregulation of LDLR activity.

    “Patients with homozygous familial hypercholesterolemia (HoFH, LDLR mutations in both alleles) have markedly diminished response to both therapies as their lipid-lowering effects require upregulation of LDLR activity (Cuchel et al., 2014; Defesche et al., 2017).”

    From GPR146 Deficiency Protects against Hypercholesterolemia and Atherosclerosis (2019) · cites this paper as Defesche et al., 2017

  • Elevated plasma LDL-C and TG levels are major risk factors for atherosclerotic cardiovascular disease.

    “elevated plasma LDL-C and TG levels are major risk factors (Defesche et al., 2017; Do et al., 2013; Hegele, 2009; Hokanson and Austin, 1996; Rader, 2016)”

    From GPR146 Deficiency Protects against Hypercholesterolemia and Atherosclerosis (2019) · cites this paper as Defesche et al., 2017

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Metadata

Authors
Defesche, J. C., Gidding, S. S., Harada-Shiba, M., Hegele, R. A., Santos, R. D., & Wierzbicki, A. S.
Venue
Nature Reviews Disease Primers
Publisher
Springer Science and Business Media LLC
Published
2017-12-07
Volume
3
Issue
1
ISSN
2056-676X
DOI
10.1038/nrdp.2017.93
Cited by
453
References
15
Language
en
Licence

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