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Homozygous familial hypercholesterolemia

Disease definition

A rare disorder of lipid metabolism characterized by severely elevated low-density lipoprotein cholesterol levels and subsequent premature formation of atherosclerotic plaques in the coronary arteries, proximal aorta, and other arteries, significantly increasing the risk of cardiovascular disease at an early age. 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.

ORPHA:391665

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

Detailed information

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