Familial Hypercholesterolemia: From Diagnosis to Treatment

نویسندگان
Asadi, Elaheh ID 1
Ghasemi, Nasrin ID 2
Zarifian Yeganeh, Razieh ID 3
Farashahi Yazd, Ehsan ID 4
Sheikhha, Mohammad Hassan ID 5

1 Department of Genetics, Faculty of Medicine, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.

2 Department of Genetics, Faculty of Medicine, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.

3 Department of Medical Genetics, Tehran University of Medical Sciences, Tehran, Iran.

4 Department of Genetics, Faculty of Medicine, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.Research and Clinical Centre for Infertility, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.

5 Department of Genetics, Faculty of Medicine, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.Research and Clinical Centre for Infertility, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.

doi
چکیده

Familial hypercholesterolemia (FH) is an inherited common autosomal Mendelian disorder of lipoprotein metabolism with a population prevalence of 1 in 500. FH is characterized by severely elevated levels of low-density lipoprotein cholesterol (LDL-C), which result in surplus deposition of cholesterol in tissues. This condition leads to premature at hero sclerosis and early-onset ...

کلیدواژه‌ها
Diagnosis, Familial hypercholesterolemia, LDL receptor, Treatment