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Hyperalphalipoproteinämie 1

Hyperalphalipoproteinämie 1 ist eine Hyperlipoproteinämie, die allein durch hohe HDL-Spiegel gekennzeichnet ist und durch Mutationen im CETP-Gen verusrsacht wird. Der Vererbungsmodus ist unterschiedlich. Es sind dominante als auch rezessive Formen beschrieben. Meist zeichnen sich die Merkmalsträger durch eine besondere Langlebigkeit aus.

Klinischer Befund

Klinisch sind die Hyperalphalipoproteinämien durch ein eher erniedrigtes Risiko für Herz-Kreislauf-Erkrankungeen gekennzeichnet. Bei der Hyperalphalipoproteinämie 1 bestehen neben den hohen HDL auch besonders niedrige LDL-Werte, was die anti-atherogene Wirkung noch weiter verstärkt. Merkmalsträger erreichen oft ein beträchtliches Alter.

Diagnosestellung

Bei der Lipidelektrophorese fällt der besonders hohe alpha Peak auf. Die HDL-Partikel sind sowohl vermehrt als auch vergrößert. Gleichzeitig kommt es zu einer erniedrigung der LDL-Partikel.

Gliederung

Dyslipidämie
Apolipoprotein-Mangel
Betalipoprotein-Mangel
Epigenetische Dyslipidämie
Hyperalphalipoproteinämie 1
CETP
Hyperalphalipoproteinämie 2
Hyperlipämie
Hypoalphalipoproteinämie
Hypobetalipoproteinemie

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OMIM.ORG article

Omim 143470 external link
Update: 14. August 2020
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