Familial Hypercholesterolaemia: An Updated Overall Management
نویسندگان
چکیده
منابع مشابه
Familial 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 کاملManagement of homozygous familial hypercholesterolaemia in two brothers
Homozygous familial hypercholesterolaemia (HoFH) is a rare, genetic disorder of abnormally high levels of low-density lipoprotein cholesterol (LDL-C) requiring aggressive interventions to retard the evolution of atherosclerotic cardiovascular disease. We treated two brothers (ages 46 years and 47 years) with HoFH with statins, lipoproteinapheresis (LA) and the microsomal triglyceride transfer p...
متن کاملGuidelines for the diagnosis and management of familial hypercholesterolaemia.
Familial hypercholesterolaemia (FH) is a dominantly inherited condition that is due to a genetic defect in one of several genes that affect receptor-mediated uptake of low density lipoprotein (LDL) (see “Molecular Genetics” below). Affected individuals suffer metabolic and clinical features (Table 1) that include impaired uptake of plasma LDL cholesterol, resulting in high cholesterol levels an...
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 Clinical and Health Sciences
سال: 2020
ISSN: 0127-984X
DOI: 10.24191/jchs.v5i2.11121