Expanding the LDL-C criterion for suspected homozygous familial hypercholesterolemia to include treated and imputed elevations

Homozygous familial hypercholesterolemia (HoFH) remains underdiagnosed worldwide. Cases may not be suspected when family history, physical manifestations, and untreated low-density lipoprotein-cholesterol (LDL-C) levels are unknown or when treated LDL-C levels do not meet current accepted criteria. The latter can be overcome through the application of a validated algorithm for the calculation of an imputed, pretreatment LDL-C based on treated LDL-C considered in the context and the drugs/dosages used to achieve that value. A study of this approach recently provides justification for expansion of the LDL-C criterion for suspected HoFH to be altered to include treated, untreated, or imputed LDL-C >10 mmol/L.