The genetics and screening of familial hypercholesterolaemia
نویسندگان
چکیده
منابع مشابه
Familial hypercholesterolaemia: underdiagnosed and undertreated.
Autosomal dominant familial hypercholesterolaemia (FH) is the most common inherited disorder known to cause premature coronary heart disease in people of European descent. The estimated prevalence of FH is 1 in 500, and heterozygous FH carries a high risk of premature coronary disease if left untreated (.50% risk in men by the age of 50 and .30% in women by 60 years). However, the condition is ...
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 ...
متن کاملDiscovering familial hypercholesterolaemia.
The CPD paper trail is prohibitively expensive, and the Board has determined that the publishing division must contain costs. I am sorry that my comments came across as ‘hard cheese’ – that was not intended. We had anticipated difficulties with the new process and have not been disappointed. Emily Nel at the SAMA Western Cape Branch has indicated her willingness to enter the questionnaires on b...
متن کاملTreatment of the arthropathy of familial hypercholesterolaemia.
A 29-year-old woman suffering from the arthropathy of familial hypercholesterolaemia was treated with a fat-modified low-cholesterol diet and colestipol. Symptomatic improvement occurred in association with a moderate reduction in the plasma cholesterol concentration. The pathogenesis of the musculoskeletal features of this disease is reviewed, and the implications of this patient's therapeutic...
متن کاملGenetic 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...
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ژورنال
عنوان ژورنال: Journal of Biomedical Science
سال: 2016
ISSN: 1423-0127
DOI: 10.1186/s12929-016-0256-1