Kantonsspital St.Gallen

[Diagnosis and Treatment of Familial Hypercholesterolemia]

Manuela Schöb, Pascal Müller, Yannick Gerth, Wolfgang Korte, Hans Rickli, Michael Brändle, Andreas Bärlocher & Stefan Bilz

abstract 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.
citation 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.
type journal paper/review (Translation2::getLang(): unknown language "". Use Translation2::setLang() to set a default language.)
date of publishing 11-2018
journal title Praxis (Bern 1994) (107/24)
ISSN print 1661-8157
pages 1345-1353
PubMed 30482120
DOI 10.1024/1661-8157/a003134