DISEASE SCANNER

Global Incurable Diseases Tracker

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Genetic Disorder

Familial Hypercholesterolemia

HIGH SEVERITY

An inherited disorder of cholesterol metabolism causing severely elevated LDL cholesterol from birth. Autosomal dominant. Heterozygous: 1 in 250; Homozygous: 1 in 300,000. Causes premature cardiovascular disease if untreated.

Global Affected

34.0M

Countries

19

Symptoms

Tendon xanthomas
Corneal arcus (young age)
Xanthelasma
Angina
Myocardial infarction (young age)
Aortic stenosis (homozygous)
Stroke

Treatment Options

Genetic counseling
Supportive care
Symptom management
Enzyme replacement (if applicable)
Physical therapy
Regular monitoring
Multidisciplinary care

Risk Factors

1Family history
2Genetic mutations
3Consanguinity
4Advanced paternal age
5Ethnic predisposition

Diagnostic Methods

  • 1Genetic testing
  • 2Clinical evaluation
  • 3Family history assessment
  • 4Specialized laboratory tests
  • 5Imaging studies
  • 6Biopsy (if applicable)

Prognosis

Homozygous: severe early cardiovascular disease, death by 20s without treatment. Heterozygous: CHD risk 20x normal, occurs 20-30 years earlier. With modern therapy, life expectancy approaching normal.

Prevention

  • Genetic counseling
  • Carrier screening
  • Prenatal diagnosis
  • Preimplantation genetic diagnosis
  • Family planning

Research Status

High-intensity statins, ezetimibe, PCSK9 inhibitors. Lipoprotein apheresis for severe cases. Lomitapide and mipomersen for HoFH. Early diagnosis and treatment prevent cardiovascular events. Cascade screening of family members.

Affected Countries

United StatesUnited KingdomCanadaAustraliaGermanyFranceItalySpainJapanBrazilMexicoNigeriaSouth AfricaIndiaChinaNetherlandsSouth AfricaLebanonAfghanistan

Sources

  • https://www.ncbi.nlm.nih.gov/books/NBK1116
  • https://medlineplus.gov/genetics
  • https://rarediseases.org

Medical Disclaimer

This information is for educational purposes only. Always consult healthcare professionals for medical advice, diagnosis, and treatment.