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LDLR Variant Severity Score Calculator

  • LDLR Variant Type
  • LDL-C Level (mg/dL)
  • Presence of Tendon Xanthomas
  • 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.

    Reference:
    Sjouke B, et al. "LDLR Variant Severity Score Predicts Phenotype and Cardiovascular Risk in Familial Hypercholesterolemia." J Clin Lipidol. 2016;10(6):1386-1395. doi:10.1016/j.jacl.2016.08.007

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Appcardio may contain errors. Always verify the calculation and its accuracy before clinical use.