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Iranian Journal of Diabetes and Obesity، جلد ۶، شماره ۴، صفحات ۱۸۶-۱۹۶
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عنوان انگلیسی Familial Hypercholesterolemia: From Diagnosis to Treatment
چکیده انگلیسی مقاله 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 of coronary heart disease. FH mainly results from mutations in the LDLR gene. However, mutations in other genes like APOB and PCSK9 can cause similar phenotype. Early diagnosis and treatment of FH patients will reduce morbidity and mortality. Index cases are usually diagnosed using cholesterol levels, clinical characteristics and familial history despite this, genetic testing may present a decisive diagnosis of FH by detecting a pathological mutation. Then cascade testing is implemented for first-degree relatives by using lipid levels and genetic tests. This is the most cost-effective strategy performed in some countries. Statins are the first-line treatment in most of the patients for LDL-C reduction. Nonetheless, many FH patients cannot attain to the normal LDL-C levels with statins consumption. For these patients several new classes of pharmacotherapy and novel strategies exist to obtain greater LDL-C reductions such as ezetimibe, colesevelam, thyroid hormone analogs, microsomal triglyceride transfer protein inhibitors, apolipoprotein B100 antisense and PCSK9-specific monoclonal antibodies. In this article we review familial hypercholesterolemia, its diagnostic methods and genetic tests, new pharmacotherapies and novel strategies in the management of familial hypercholesterolemia.
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نویسندگان مقاله الهه اسدی | elaheh asadi
department of genetics, faculty of medicine, shahid sadoughi university of medical sciences, yazd, iran.


احسان فراشاهی یزد | ehsan farashahi yazd
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.


محمد حسن شیخها | mohammad hassan sheikhha
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.


نسرین قاسمی | nasrin ghasemi
department of genetics, faculty of medicine, shahid sadoughi university of medical sciences, yazd, iran.


راضیه ظریفیان یگانه | razieh zarifian yeganeh
department of medical genetics, tehran university of medical sciences, tehran, iran.

سازمان اصلی تایید شده: دانشگاه علوم پزشکی تهران (Tehran university of medical sciences)

نشانی اینترنتی http://ijdo.ssu.ac.ir/browse.php?a_code=A-10-30-94&slc_lang=en&sid=en
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زبان مقاله منتشر شده en
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