[Diagnosis and Treatment of Familial Hypercholesterolemia]
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abstract
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Diagnosis and Treatment of Familial Hypercholesterolemia Abstract.
Familial hypercholesterolemia secondary to heterozygous mutations in
the LDL receptor, Apolipoprotein B or PCSK9 gene is characterized by
2- to 3-fold elevated LDL cholesterol levels, premature
atherosclerosis and extravascular cholesterol deposits (tendon
xanthomata, corneal arcus). The same phenotype may occur if a person
carries several LDL cholesterol rising polymorphisms (polygenic FH).
Primary prevention with statins has been shown to dramatically
reduce the cardiovascular burden in patients with the disease.
However, it is estimated that less than 10 % of affected subjects in
Switzerland have received the diagnosis, and undertreatment is
frequent. Thus, clinical cardiovascular events are still the first
manifestation of the disease in many cases. A correct diagnosis in
index patients and cascade screening of families are mandatory to
identify and treat patients before they suffer the sequelae of
untreated severe hypercholesterolemia. In patients with clinical
cardiovascular disease combination lipid lowering treatment with
potent statins, ezetimibe and the newly available PCSK9 inhibitors
will successfully lower LDL cholesterol to normal or even target
levels.
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citation
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Schöb M, Müller P, Gerth Y, Korte W, Rickli H, Brändle M,
Bärlocher A, Bilz S. [Diagnosis and Treatment of Familial
Hypercholesterolemia]. Praxis (Bern 1994) 2018; 107:1345-1353.
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type
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journal paper/review (Translation2::getLang(): unknown language "".
Use Translation2::setLang() to set a default language.)
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date of publishing
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11-2018
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journal title
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Praxis (Bern 1994) (107/24)
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ISSN print
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1661-8157
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pages
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1345-1353
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PubMed
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30482120
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DOI
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10.1024/1661-8157/a003134
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