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From SNPedia
Familial Hypercholesterolemia
Is agenotype
GeneLDLR, MIR6886
Geno Mag Summary
(A;C) 5 Familial Hypercholesterolemia
(C;C) 0 common in clinvar
(C;G) 5 Familial Hypercholesterolemia

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.