کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
105503 161514 2012 7 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Screening for familial hypercholesterolaemia
موضوعات مرتبط
علوم پزشکی و سلامت پزشکی و دندانپزشکی پزشکی قانونی
پیش نمایش صفحه اول مقاله
Screening for familial hypercholesterolaemia
چکیده انگلیسی

SummaryFamilial hypercholesterolaemia (FH) is an autosomal dominant disorder characterised by increased plasma concentrations of low density lipoprotein (LDL) cholesterol leading to atherosclerosis and premature coronary heart disease (CHD) and death. The clinical diagnosis of FH is based on a personal and family history, physical examination findings and LDL-cholesterol concentrations. FH is primarily caused by mutations in the LDL-receptor gene (LDLR), and less frequently by mutations in genes for APOB and the more recently identified PCSK9. Lifestyle modification and pharmacotherapy can delay or prevent the onset of CHD in FH. It is estimated that only 20% of cases have been diagnosed in Australia and that the majority are inadequately treated. Screening options for FH include population screening (of children or adults), targeted screening of patients with premature CHD and their relatives, or opportunistic screening such as flagging laboratory lipid reports. Cascade screening, a form of targeted screening, is an ethically acceptable, cost- effective strategy for the identification of FH. However, for screening to be successful, medical practitioners need to be aware of the signs and diagnosis of FH and the benefits of early treatment.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Pathology - Volume 44, Issue 2, February 2012, Pages 122-128