LDLR Variant Severity Score Calculator

LDLR Variant Severity Score: Explanation and Clinical Context The LDLR Variant Severity Score is a tool developed to predict phenotypic severity in patients with familial hypercholesterolemia (FH) based on LDLR genetic variant type, LDL-C level, and the presence of tendon xanthomas. This scoring system integrates functional classification of LDLR variants (null, defective, or mild), biochemical phenotype (LDL-C concentration), and clinical manifestations (tendon xanthomas). The total score stratifies patients into mild, moderate, or severe FH, which correlates with cardiovascular risk and guides intensity of lipid-lowering therapy.