Multiplex ARMS analysis to detect 13 common mutations in familial hypercholesterolaemia.

DNA analysis and mutation identification is useful for the diagnosis of familial hypercholesterolaemia (FH), particularly in the young and in other situations where clinical diagnosis may be difficult, and enables unambiguous identification of at-risk relatives. Mutation screening of the whole of the three FH-causing genes is costly and time consuming. We have tested the specificity and sensitivity of a recently developed multiplex amplification refractory mutation system assay of 11 low-density lipoprotein receptor gene (LDLR) mutations, one APOB (p.

Homozygous hypercholesterolaemia and ezetimibe: a case report.

Unlabelled: A girl of Indian origin presented with unusual nodules on her hands, and total cholesterol was found to be > 25 mmol/L. The girl had "mild" P664L mutation and total cholesterol levels fell by 38% when she was on a diet and statin therapy. A further reduction of 26% in total cholesterol and 37% in low-density lipoprotein (LDL) was achieved by adding ezetimibe to the treatment.