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Journals / Göztepe Tıp Dergisi / 2006 / Cilt: 21 - Sayı: 4

Familial hypercholesterolemia

Ailesel hiperkolesterolemi

Özlem SANGÜN
Cenk AKÇALI
Faruk İNCECİK
İsmail GÜZELMANSUR
Pages
210–212
Publication Date
2022-10-17
DOI
—
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AI Summary & Key Takeaways

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

We therefore presented two families who have this rarely seen metabolic disorder of lipid metabolism which leads to coronary atherosclerosis, myocardial infarction and death at early ages.

📌 3 Key Takeaways

🎯
Objective & Hypothesis:Familial hypercholesterolemia is a hereditary disease characterized with the increase of LDL- cholesterol level in plasma as a result of mutational defect of LDL receptor gene.
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Key Findings & Data:The form which is homozygous has an incidance of 0.2 % in the population.
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Conclusion & Impact:We therefore presented two families who have this rarely seen metabolic disorder of lipid metabolism which leads to coronary atherosclerosis, myocardial infarction and death at early ages.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

Abstract

Familial hypercholesterolemia is a hereditary disease characterized with the increase of LDL- cholesterol level in plasma as a result of mutational defect of LDL receptor gene. The disease presents in two forms as homozygous and heterozygous. The form which is homozygous has an incidance of 0.2 % in the population. Because the patients have high cholesterol, especially LDL- cholesterol levels which are the major factor that contribute to atherosclerosis, early diagnosis and treatment is very important. We therefore presented two families who have this rarely seen metabolic disorder of lipid metabolism which leads to coronary atherosclerosis, myocardial infarction and death at early ages.

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Cite This Article

SANGÜN, Ö., AKÇALI, C., İNCECİK, F., GÜZELMANSUR, İ. (2022). Familial hypercholesterolemia. Göztepe Tıp Dergisi, Cilt: 21 - Sayı: 4, 210–212. https://ajindex.com/articles/526359

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