Postmortem diagnosis of familial hypercholesterolaemia.
نویسندگان
چکیده
منابع مشابه
Diagnosis and treatment of familial hypercholesterolaemia.
Familial hypercholesterolaemia (FH) is an autosomal dominant genetic disorder, associated with elevated levels of low-density lipoprotein-cholesterol (LDL-C), which can lead to premature cardiovascular disease. Early diagnosis of FH is important to prevent morbidity and mortality. Familial hypercholesterolaemia is usually diagnosed using clinical characteristics, such as family history, and cho...
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 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 ...
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...
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ژورنال
عنوان ژورنال: BMJ
سال: 1984
ISSN: 0959-8138,1468-5833
DOI: 10.1136/bmj.289.6459.1656