Table 1 Distinction in the Clinical Versus Genetic Nomenclature of Familial Hypercholesterolemia
From: Familial Hypercholesterolemia: The Lipids or the Genes?
Genetically (Genotype) | |
|---|---|
Homozygous | Homozygous for a mutation in one of the candidate genesa known to cause FH |
Combined Heterozygous | Heterozygous for two different mutations in the same or different candidate genes known to cause FH |
Heterozygous | Heterozygous for a mutation in one of the candidate genes known to cause FH |
Unknown | No causative mutation could be detected after screening all candidate genes known to cause FH |
Clinically (Phenotype) | |
Severe | LDL-C levels that are three to four times the normal and externalb or cardiovascularc manifestations of FH |
Mild | Elevated LDL-C levels that do not exceed three times the normal |
Pardoxical | LDL-C levels that are three to four times the normal and with no external or cardiovascular manifestations of FH OR Normal to slightly elevated LDL-C levels with external or cardiovascular manifestations of FH |