The genetics and screening of familial hypercholesterolaemia

• Published in: Journal of biomedical science Vol. 23; no. 1; p. 39
• Main Authors: Henderson, Raymond, O’Kane, Maurice, McGilligan, Victoria, Watterson, Steven
• Format: Journal Article
• Language: English
• Published: England BioMed Central Ltd 16.04.2016; BioMed Central
• Subjects: Adaptor Proteins, Signal Transducing - genetics; Antilipemic agents; Apolipoproteins B - genetics; Atherosclerosis; Blood cholesterol; Cardiovascular disease; Cholesterol; Coronary heart disease; Exons; Family medical history; Genetic aspects; Genetic Testing - methods; Genetics; Humans; Hypercholesterolemia; Hyperlipoproteinemia Type II - diagnosis; Hyperlipoproteinemia Type II - genetics; Proprotein Convertase 9; Proprotein Convertases - genetics; Public health; Receptors, LDL - genetics; Review; Serine Endopeptidases - genetics; United Kingdom; Netherlands; CVD; atherosclerosis; FH; screening; universal screening; Familial hypercholesterolaemia; cascade screening; cholesterol; CHD

Familial Hypercholesterolaemia is an autosomal, dominant genetic disorder that leads to elevated blood cholesterol and a dramatically increased risk of atherosclerosis. It is perceived as a rare condition. However it affects 1 in 250 of the population globally, making it an important public health c...