Homozygot familiær hypercholesterolæmi var defineret ved et LDL- kolesterolniveau ≥500 mg/ dl og tilstedeværelsen af mindst 2 af følgende: sene- xanthoma, begge forældre med en diagnose af familiær hypercholesterolæmi eller en LDL- receptor genotype indicerende tilstedeværelsen af en mutation i begge LDL- receptor gener.
Homozygous familiar hypercholesterolemia was defined by an LDL cholesterol level ≥ 500 mg/ dl and the presence of at least 2 of the following: tendinous xanthoma, both parents with a diagnosis of familial hypercholesterolemia or an LDL-receptor genotype indicating the presence of a mutation in both LDL receptor genes.