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Decoding Hypercarotenemia: Integrating Pathophysiology, Clinical Recognition, and Precision Management.

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Hypercarotenemia, high beta-carotene levels, is increasingly detected due to dietary changes. It

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Area of Science:

  • Metabolic Phenotyping
  • Nutritional Biochemistry
  • Human Genetics

Background:

  • Hypercarotenemia is defined by elevated beta-carotene levels (>300 μg/dL), causing skin yellowing but clear sclera.
  • Increased detection correlates with plant-based diets and metabolic dysfunction.
  • It's a key differentiator from liver disease.

Purpose of the Study:

  • To review hypercarotenemia's pathophysiology, epidemiology, and clinical aspects.
  • To highlight genetic factors and precision management strategies.
  • To synthesize current understanding for clinical application.

Main Methods:

  • Systematic literature analysis of molecular mechanisms, epidemiology, clinical phenotypes, and treatments.
  • Focus on genetic discoveries and precision nutrition.
  • Review of diagnostic criteria and biomarker utility.

Main Results:

  • Pathogenesis involves intestinal absorption (SR-B1), enzymatic conversion (BCO1/BCO2), and genetic susceptibility (BCO1 variants).
  • Clinical heterogeneity is influenced by metabolic capacity, microbiome, and endocrinopathies (thyroid, diabetes).
  • Management has shifted to precision nutrition integrating genetic profiles.

Conclusions:

  • Hypercarotenemia is a biomarker for metabolic dysfunction and genetic variations in vitamin homeostasis.
  • Diagnostic criteria include biochemical thresholds and functional tests (retinol:β-carotene ratio).
  • Personalized dietary counseling and risk stratification are warranted.