Have questions? Visit https://www.reddit.com/r/SNPedia

rs28942112(C;T)

From SNPedia
Familial Hypercholesterolemia
Is agenotype
ofrs28942112
GenePCSK9
Chromosome1
Position55,052,400
mentionedby
Magnitude5
ReputeBad
Geno Mag Summary
(C;T) 5 Familial Hypercholesterolemia
(T;T) 0 common in clinvar

This is a genotype with recommended actions if clinically confirmed. In brief:

  • FH (familial hypercholesterolemia) is characterized by high low-density lipoprotein cholesterol (LDL-C) and increased risk of premature coronary artery disease; untreated LDL-C concentrations are typically in the range of 190-350 mg/dL.
  • These raised LDL-C concentrations are likely to be present during childhood and may lead to early development of atherosclerosis and coronary heart disease (CHD) if left untreated.
  • Patients should consider lifelong, high-intensity statin therapy beginning in childhood (age 8). Statin use in FH patients may reduce CHD risk by 76%.
  • Consider taking aspirin daily.
  • High blood pressure and diabetes are additional CHD risk factors and should be treated aggressively in FH individuals.
  • Monitor blood pressure every 6 - 12 weeks and lipid levels at least annually.
  • FH patients should avoid additional risk factors for CHD including smoking, physical inactivity, diets high in saturated fats and cholesterol, unhealthy body weight, and excessive alcohol consumption.
  • Consider LDL-C or genetic testing of family members.


The full ClinGen Actionability report about Familial Hypercholesterolemia (HeFH) can be found here.

Genetic counseling may be available to you through your health-care network. In the US, genetic counselors may be found via this webpage of the National Society of Genetic Counselors.