Analysis of the frequency and spectrum of mutations recognised to cause familial hypercholesterolaemia in routine clinical practice in a UK specialist hospital lipid clinic.

•54 different LDLR mutations found in a cohort of 272 FH probands.•The cohort was found to be genetically heterogeneous with no specific FH mutation.•Mutation detection rate was highly dependent on pre-treatment TC and TG levels.•No difference in specificity/sensitivity between 2 clinical FH diagnosis approaches.•Inadequate LDL-C reduction marks the need for more effective lipid-lowering therapy.