Lipoprotein(a) and familial hypercholesterolaemia

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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 ...

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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 ...

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Discovering familial hypercholesterolaemia.

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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...

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Articular manifestations of familial hypercholesterolaemia.

Familial hypercholesterolaemia is characterised by a decreased removal of low density lipoproteins and premature coronary artery disease. Tendinous xanthomata are a hallmark of the disease. The affected joints may also be the sites of inflammation and pain. Arthropathy has been associated mainly with the homozygous form of familial hypercholesterolaemia, but it is also known to occur in the het...

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ژورنال

عنوان ژورنال: The Lancet Diabetes & Endocrinology

سال: 2016

ISSN: 2213-8587

DOI: 10.1016/s2213-8587(16)30149-8