Cardiovascular Autosomal Dominant Treatment Available

Familial Hypercholesterolemia

Inherited high cholesterol that leads to early heart disease if untreated. LDL cholesterol is significantly elevated from birth.

Genetic Information

Associated Genes

LDLR APOB PCSK9

Inheritance Pattern

Autosomal Dominant

Carrier Frequency

1 in 250

Signs and Symptoms
  • Very high LDL cholesterol (>190 mg/dL)
  • Tendon xanthomas (cholesterol deposits)
  • Corneal arcus at young age
  • Early heart disease
Treatment and Management
Treatment is available for this condition.

Statins, PCSK9 inhibitors, LDL apheresis

How Is It Inherited?

This condition follows an autosomal dominant inheritance pattern. This means:

  • Only one copy of the altered gene is needed to cause the condition
  • An affected person has a 50% chance of passing it to each child
  • The condition can appear in every generation of an affected family
Medical Reference

For detailed clinical information, visit the GeneReviews article:

GeneReviews: Familial Hypercholesterolemia
Quick Facts
Category Cardiovascular
Inheritance Autosomal Dominant
Gene(s) LDLR, APOB, PCSK9
Treatable Yes
Have Questions?

Speak with a board-certified genetic counselor to learn more about this condition and what it means for you.

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Resources
GeneReviews Article OMIM Database ClinVar Variants MedlinePlus Genetics
Disclaimer: This information is for educational purposes only and should not replace professional genetic counseling. If you have questions about genetic test results, please consult with a certified genetic counselor.