Watts Gerald F, Sullivan David R, van Bockxmeer Frank M, Poplawski Nicola, Hamilton-Craig Ian, Clifton Peter M, O'Brien Richard C, George Peter M, Burnett John R
Lipid Disorders Clinic, Metabolic Research Centre and Department of Internal Medicine, Royal Perth Hospital, School of Medicine and Pharmacology, University of Western Australia, Perth, WA, Australia;
Clin Biochem Rev. 2012 Feb;33(1):25-31.
Familial hypercholesterolaemia (FH) is a dominantly inherited disorder present from birth that causes marked elevation in plasma low-density lipoprotein (LDL) cholesterol concentrations and premature coronary heart disease. There are at least 45,000 people with FH in Australia and New Zealand, but most remain unrecognised and those diagnosed remain inadequately treated. To bridge this gap in coronary prevention the FH Australasia Network has developed a model of care for FH. An executive summary of the model of care is presented, with a commentary on its recommendations and the key role of the clinical biochemistry laboratory.
家族性高胆固醇血症(FH)是一种从出生就存在的常染色体显性遗传疾病,它会导致血浆低密度脂蛋白(LDL)胆固醇浓度显著升高,并引发早发性冠心病。在澳大利亚和新西兰,至少有45000人患有FH,但大多数人仍未被诊断出来,而那些已确诊的患者也未得到充分治疗。为了填补冠心病预防方面的这一空白,澳大拉西亚FH网络已经制定了一套FH护理模式。本文给出了该护理模式的执行摘要,并对其建议以及临床生物化学实验室的关键作用进行了评论。