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Ailesel hiperkolesterolemi

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info:eu-repo/semantics/openAccess

Date

2006

Author

Faruk İncecik
Özlem Sangün
Cenk Akçalı
İsmail Güzelmansur

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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.
 
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.
 

Source

Göztepe Tıp Dergisi

Volume

21

Issue

4

URI

https://trdizin.gov.tr/publication/paper/detail/TnpBek5ERXg=
https://hdl.handle.net/20.500.12483/922

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  • TR Dizin İndeksli Yayınlar [2589]
  • Öksüz Yayınlar Koleksiyonu - TR Dizin [2392]



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