Having FH is a major risk factor for developing heart disease 1-2
If you have a family history of high levels of bad cholesterol (LDL-C), you may have a genetic variant that can cause inherited high cholesterol, a condition called familial hypercholesterolemia (FH).
If left untreated, men have a 50% risk of having a heart attack by age 50. Untreated women have a 30% risk by age 60 3.
Diagnosing disease as early as possible is vital so appropriate treatments and lifestyle adjustments can have a significant impact before the effects of disease become permanent.
If someone is found to have a genetic variant that causes FH, there is a 50% (or 1 in 2) chance that their parents, siblings, and children also inherited the same variation.
FH is an Autosomal Dominant Disease.
The Inherited Cholesterol Test Has Two Possible Outcomes
No variant found No variation linked to FH was found. If you have a personal or family history of high cholesterol, you may want to consult with your physician or a genetic counselor.
Pathogenic Likely pathogenic and pathogenic variants have very strong and definitive scientific evidence linking them with FH. The result of a likely pathogenic or pathogenic FH variant in an FH gene means you have a higher risk for heart disease due to chronic high cholesterol. We recommend you consult with your physician or a genetic counselor.
- Lazonao P. et al Evidence Summary: Screening for Familial Hypercholesterolemia: Other Supporting Document for Lipid Disorders in Children and Adolescents: Screening. JAMA. Aug, 2016
- “What is FH?” About FH. FH Foundation, n.d. Web. June 2017
- Marks D, Thorogood M, Neil HA et al. A review on the diagnosis, natural history, and treatment of familial hypercholesterolemia. Atherosclerosis 2003;168:1-14.
- de Ferranti SD. et al. Prevalence of Familial Hypercholesterolemia in the 1999 to 2012 United States National Health and Nutrition Examination Surveys (NHANES). Mar 2016; 133: 1067-1072.
- Knowles J. et al. Reducing the burden of disease and death from familial hypercholesterolemia: A call to action. Am Heart J. Sept 2014;168:807-11.
- Nordestgaard et al. Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease. European Heart Journal. Aug 2013. 34, 3478-3490
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- Guglielmi V. et al. What is the actual epidemiology of familial hypercholesterolemia in Italy? Evidence from a National Primary Care Database. Int J Cardiol. 2016 Nov. 15;223:701-705.
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- Jensen HK. The molecular genetic basis and diagnosis of familial hypercholesterolemia in Denmark. Dan Med Bull. 2002 Nov;49(4):318-45.
- Klose G. et al. Familial Hypercholesterolemia: Developments in Diagnosis and Treatment. Deutsches Ärzteblatt International. 2014;111(31-32):523-529.
- Mathews L. Variation in the Prevalence of Familial Hypercholesterolemia Around the World. American Colledge of Cardiology. Jul 2015.
- Mehta R. et al. The panorama of familial hypercholesterolemia in Latin America: a systematic review. J Lipid Res. 2016 Dec;57(12):2115-2129. Epub 2016 Oct 24.
- Zhou M. et al. Familial Hypercholesterolemia in Asian Populations. J Atheroscler Thromb. May 2016. 2;23(5):539-49