Familial hyperchlolesterolaemia a monogenic cause of early CHD / Steve Humphries.

• Contents: Clinical diagnostic criteria -- Prevalence in UK -- Effects of statins on cholesterol and CHD risk lowering -- The 3 genes where mutations cause FH (LDLR, APOB, PCSK9) -- Clinical Genetics Diagnostic service for FH and examples in families -- Cascade testing for FH patients using LDL cholesterol levels -- The Overlap problem -- The Simon Broome FH register project and the high risk of early CHD in those with an LDLR and PCSK9 mutation -- The LDLR mutation database -- Ethical issues about genetic testing for FH -- Clinical questions in the management of FH -- FH testing and insurance.

Ämnesord

Cardiovascular Diseases  -- genetics. (MeSH)

Hypercholesterolemia  -- genetics. (MeSH)