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Journals / Klinik Tıp Bilimleri / 2020 / Cilt: 8 Sayı: 2

Ailevi Hiperkolesterolemi: Epidemiyoloji, Genetik, Tanı Ve Tedavisi

Hakan Göçer(Medical Park Uşak Hastanesi, Kalp ve Damar Cerrahisi Bölümü Kemalöz Mahallesi, Atatürk Bulvarı, No: 139, 64200, Merkez/Uşak)
Murat Günday(Afyon Sağlık Bilimleri Tıp Fakültesi, Kalp Damar Cerrahisi)
Ahmet Barış Durukan(Medical Park Usak Hastanesi, alp Damar Cerrahisi)
Pages
62–66
Publication Date
2022-07-05
DOI
—
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AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

Bu derlemede bu hastalığın tanı, tedavi ve yönetimi konusunda güncel bilgiler verilmiştir.

📌 3 Key Takeaways

🎯
Objective & Hypothesis:Lipoprotein 2 metabolizmasının genetik bir bozukluğu olan ailevi hiperlipidemi artmış kolesterol seviyeleri ve erken gelişen kardiyovasküler hastalıklarla kendini gösterir.
📊
Key Findings & Data:Tanı laboratuvar testleri, fenotipik değerlendirme ve genetik mutasyon analizleri ile yapılmaktadır.
💡
Conclusion & Impact:Bu derlemede bu hastalığın tanı, tedavi ve yönetimi konusunda güncel bilgiler verilmiştir.
🔬Design:Lab & Field Experiment
📍Scope:Comprehensive Sample
⚙️Variables:Hiperlipidemiler · Lipoproteins · LDL

Özet

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.

🔖

Cite This Article

Göçer, H., Günday, M., Durukan, A. B. (2022). Ailevi Hiperkolesterolemi: Epidemiyoloji, Genetik, Tanı Ve Tedavisi. Klinik Tıp Bilimleri, Cilt: 8 Sayı: 2, 62–66. https://ajindex.com/articles/1594821

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