Current challenges in diagnosing homozygous familial hypercholesterolemia: Insights from the historical evolution of diagnostic criteria.
BACKGROUND Homozygous familial hypercholesterolemia (HoFH) is a rare disease characterized by dysfunctional low-density lipoprotein receptors (LDLR) and markedly elevated low-density lipoprotein cholesterol (LDL-C) from birth. Cumulative exposure to elevated LDL-C results in premature atherosclerotic cardiovascular dis...