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Figure illustrates one aspect of the relation between the nature of the mutation leading to reductions in LDL receptor activity and the actual impact on events. These data from homozygous FH patients illustrate that the LDL receptor activity, as measured in skin fibroblasts, is a strong predictor of mortality and particularly the age of death. For individuals with <2% LDL receptor activity - ie, essentially negligible or undetectable LDL receptors - the result is a much higher risk of early death compared with individuals who, for example, have homozygous FH but with an LDL receptor activity >10%.
This illustrates again that the heterogeneity of outcomes seen in people with LDL receptor mutations depends on the nature of the LDL receptor mutation that they have.
