Hakan GÖÇER, Murat GÜNDAY, Ahmet Barış DURUKAN

Ailevi Hiperkolesterolemi: Epidemiyoloji, Genetik, Tanı Ve Tedavisi

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

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ISSN: 2147-494X
Başlangıç: 2013
Yayıncı: Selen Medya Yayıncılık Tanıtım ve Organizasyon Hizmetleri

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