Guidelines for the diagnosis and management of familial hypercholesterolaemia.
نویسنده
چکیده
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 and increased risk of premature cardiovascular disease.
منابع مشابه
Identification and Treatment of Patients with Homozygous Familial Hypercholesterolaemia: Information and Recommendations from a Middle East Advisory Panel
We present clinical practice guidelines for the diagnosis and treatment of homozygous familial hypercholesterolaemia (HoFH) in the Middle East region. While guidelines are broadly applicable in Europe, in the Middle East we experience a range of confounding factors that complicate disease management to a point whereby the European guidance cannot be applied without significant modification. Spe...
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متن کاملDiagnosis 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...
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عنوان ژورنال:
- Heart, lung & circulation
دوره 16 1 شماره
صفحات -
تاریخ انتشار 2007