Homozygous Familial Hypercholesterolemia

A rare inherited genetic disorder, one form of HYPERLIPOPROTEINEMIA TYPE II, characterized by high level of LOW-DENSITY LIPOPROTEIN (LDL) which if not treated could elevate the chance of heart attack at an early age.

Also Known As:

Hypercholesterolemias, Homozygous Familial; HoFH

Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Inborn Genetic Diseases: 11939
  - Inborn Errors Metabolism: 1162
    - Inborn Errors Lipid Metabolism
      - Hyperlipoproteinemia Type II: 4283
        Homozygous Familial Hypercholesterolemia: 728
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10142
  - Inborn Errors Metabolism: 1162
    - Inborn Errors Lipid Metabolism
      - Hyperlipoproteinemia Type II: 4283
        Homozygous Familial Hypercholesterolemia: 728
  - Lipid Metabolism Disorders: 898
    - Dyslipidemias: 18198
      - Hyperlipidemias: 16120
        Hyperlipoproteinemias: 1408
        Hyperlipoproteinemia Type II: 4283
        Homozygous Familial Hypercholesterolemia: 728
    - Inborn Errors Lipid Metabolism
      - Hyperlipoproteinemia Type II: 4283
        Homozygous Familial Hypercholesterolemia: 728

Hokuriku FH Study Group Selected Research

Hokuriku FH Study Group Research Topics

Disease

Drug/Important Bio-Agent (IBA)