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Homozygous familial hypercholesterolemia

Disease definition

A rare disorder of lipid metabolism characterized by severely elevated plasma total cholesterol, low-density lipoprotein (LDL) cholesterol levels, and subsequent premature formation of atherosclerotic plaques in the coronary arteries, proximal aorta, and other arteries, significantly increasing the risk of premature cardiovascular disease and death. Xanthomas of the skin and in tendons are also a hallmark of the disease. Lethality is high due to early complications, in particular myocardial infarction and aortic valvular disease.


Classification level: Disorder
  • Synonym(s):
    • HoFH
  • Prevalence: 1-9 / 1 000 000
  • Inheritance: Autosomal dominant or Autosomal recessive 
  • Age of onset: Neonatal
  • ICD-10: E78.0
  • OMIM: 143890  144010  602247  603813
  • UMLS: C0342881
  • MeSH: D000090542
  • GARD: -
  • MedDRA: 10057080

Detailed information


Disease review articles

Genetic Testing

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