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Volume : 36 Issue : 2 Year : 2020

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Familial hypercholesterolemia [Medeniyet Med J]
Medeniyet Med J. 2006; 21(4): 210-212

Familial hypercholesterolemia

Faruk İncecik1, Özlem Sangün2, Cenk Akçalı2, İsmail Güzelmansur3
1Mustafa Kemal University Faculty of Medicine, Department of Pediatrics, Hatay
2Mustafa Kemal University Faculty of Medicine, Department of Dermatology, Hatay
3Antakya State Hospital Department of Radiology, Hatay

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.

Keywords: Familial hypercholesterolemia, diagnosis and treatment

Ailesel hiperkolesterolemi

Faruk İncecik1, Özlem Sangün2, Cenk Akçalı2, İsmail Güzelmansur3
1Mustafa Kemal Üniversitesi Tıp Fakültesi, Pediatri Anabilim Dalı, Hatay
2Mustafa Kemal Üniversitesi Tıp Fakültesi, Dermatoloji Anabilim Dalı, Hatay
3Antakya Devlet Hastanesi Radyoloji Bölümü, Hatay

Anahtar Kelimeler: Ailesel hiperkolesterolemi, tanı ve tedavi

Faruk İncecik, Özlem Sangün, Cenk Akçalı, İsmail Güzelmansur. Familial hypercholesterolemia. Medeniyet Med J. 2006; 21(4): 210-212

Corresponding Author: Faruk İncecik, Türkiye

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