Ailevi Hiperkolesterolemi: Epidemiyoloji, Genetik, Tanı Ve Tedavisi

Yıl 2020, Cilt: 8 Sayı: 2, 62 - 66, 05.07.2022

Hakan Göçer Murat Günday Ahmet Barış Durukan

Öz

Lipoprotein 2 metabolizmasının genetik bir bozukluğu olan ailevi hiperlipidemi
artmış kolesterol seviyeleri ve erken gelişen kardiyovasküler hastalıklarla kendini gösterir.
Homozigot ve heterozigot formları mevcut olup, özellikle fenotipik hafif formu
olan heterozigot tip klinik tanıda genellikle göz ardı edilmektedir. Tanı laboratuvar
testleri, fenotipik değerlendirme ve genetik mutasyon analizleri ile yapılmaktadır.
Tedavide yükselmiş düşük dansiteli kolesterol seviyesinin düşürülmesi amaçlanır.
Yöntem olarak statinlerden afereze, diyet, egzersize ve karaciğer nakline kadar
geniş bir yelpaze bulunmaktadır. Primer korumada ise hastaların genetik olarak
saptanması ve akraba evliliklerinin önlenmesi dışında yapılabilecek bir şey yoktur.
Ülkemizde genetik mutasyonlar kısıtlı çalışmalarda araştırılmış, bu nedenle mutasyon
sıklık ve çeşidi konusunda bilgimiz sınırlıdır. Bu derlemede bu hastalığın tanı,
tedavi ve yönetimi konusunda güncel bilgiler verilmiştir.

Anahtar Kelimeler

Hiperlipidemiler, Lipoproteins, LDL; Therapeutics

Kaynakça

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