Diagnosing familial hypercholesterolaemia: the relevance of genetic testing
نویسندگان
چکیده
منابع مشابه
Genetic Architecture of Familial Hypercholesterolaemia
PURPOSE OF REVIEW Familial hypercholesterolaemia (FH) is an inherited disorder of low-density lipoprotein cholesterol (LDL-C) which is characterised by a raised cholesterol level from birth and a high risk of premature coronary heart disease. In this paper, we review the genetic basis of FH and its impact on the clinical presentation. RECENT FINDINGS Mutations in any of three genes (LDLR, APO...
متن کاملParental attitude towards genetic testing for familial hypercholesterolaemia in children.
Nationwide screening for familial hypercholesterolaemia (FH), using family investigation and molecular testing, has been operative in The Netherlands since 1994. FH is a common inherited disorder of lipoprotein metabolism with a prevalence of 1 in 400 to 500 persons in western societies. Untreated, the disorder leads to hypercholesterolaemia, premature cardiovascular disease, and untimely death...
متن کاملCost effectiveness of cascade testing for familial hypercholesterolaemia, based on data from familial hypercholesterolaemia services in the UK
Aims Familial hypercholesterolaemia (FH) is a vastly under-diagnosed genetic disorder, associated with early development of coronary heart disease and premature mortality which can be substantially reduced by effective treatment. Patents have recently expired on high-intensity statins, reducing FH treatment costs. We build a model using UK data to estimate the cost effectiveness of DNA testing ...
متن کاملGenetic diagnosis of familial hypercholesterolaemia by targeted next-generation sequencing
OBJECTIVES The aim of this study was to combine clinical criteria and next-generation sequencing (pyrosequencing) to establish a diagnosis of familial hypercholesterolaemia (FH). DESIGN, SETTING AND SUBJECTS A total of 77 subjects with a Dutch Lipid Clinic Network score of ≥ 3 (possible, probable or definite FH clinical diagnosis) were recruited from the Lipid Clinic at Sahlgrenska Hospital, ...
متن کاملFamilial hypercholesterolaemia in Portugal.
Familial hypercholesterolaemia (FH) is characterised clinically by an increased level of circulating LDL cholesterol that leads to lipid accumulation in tendons and arteries, premature atherosclerosis and increased risk of coronary heart disease (CHD). Although Portugal should have about 20,000 cases, this disease is severely under-diagnosed in our country, this being the first presentation of ...
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ژورنال
عنوان ژورنال: European Heart Journal
سال: 2006
ISSN: 0195-668X,1522-9645
DOI: 10.1093/eurheartj/ehl113