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Familial hypercholesterolaemia 

Familial hypercholesterolaemia
Familial hypercholesterolaemia

Perry Elliott

, Pier D. Lambiase

, and Dhavendra Kumar

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date: 26 June 2022

Familial hypercholesterolaemia (FH) is an inborn error of metabolism that leads to accumulation of low-density lipoprotein cholesterol (LDL-C) particles in the blood and premature coronary artery atherosclerosis. This chapter covers the clinical criteria for the diagnosis of FH, the genetics that underpins the condition, cascade testing, premature coronary heart disease, and treatment methods.

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