Screening for familial hypercholesterolaemia

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Follow up after a family based genetic screening programme for familial hypercholesterolaemia: is screening alone enough?

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Child-parent screening for familial hypercholesterolaemia: screening strategy based on a meta-analysis.

OBJECTIVE To develop a population screening strategy for familial hypercholesterolaemia. DESIGN Meta-analysis of published data on total and low density lipoprotein (LDL) cholesterol in people with and without familial hypercholesterolaemia according to age. Thirteen studies reporting on 1907 cases and 16 221 controls were used in the analysis. Included studies had at least 10 cases and contr...

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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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Liver transplantation for homozygous familial hypercholesterolaemia.

Homozygous familial hypercholesterolaemia is a rare inherited condition with an incidence of approximately one in a million. It is associated with severe premature atherosclerosis and early death from cardiovascular complications. The results of liver transplantation reported to date have suggested only partially effective reduction of the hypercholesterolaemia. Three boys with familial hyperch...

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ژورنال

عنوان ژورنال: BMJ

سال: 2007

ISSN: 0959-8138,1756-1833

DOI: 10.1136/bmj.39335.668646.80