Ailesel hiperkolesterolemi
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Tarih
2006
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
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Erişim Hakkı
info:eu-repo/semantics/openAccess
Özet
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.
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.
Açıklama
Anahtar Kelimeler
Genel ve Dahili Tıp
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Göztepe Tıp Dergisi
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Scopus Q Değeri
N/A
Cilt
21
Sayı
4
