Familial Hypercholesterolemia

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What is FH?

FH is an inherited condition associated with high “bad” cholesterol (low-density lipoprotein-cholesterol or LDL-C) and may predispose a person to premature cardiovascular disease (CVD). People with FH are unable to process the body’s natural supply of cholesterol, leading to very high levels of “bad” cholesterol that can block arteries and lead to a heart attack or stroke.

There are two types of FH

  • Heterozygous FH (HeFH) – inherited FH from one parent
  • Homozygous FH (HoFH) – inherited FH from both parents

FH is an inherited condition

FH affects an estimated 1 in 200 to 1 in 500 people worldwide. Up to 80% of affected people remain undiagnosed in most countries throughout the world.

Risks of FH

People with untreated FH have about 20 times greater risk of developing early heart disease.

High “bad” cholesterol is a major risk factor for atherosclerosis (plaque build-up inside the artery wall) which can lead to CVD.

If FH is left untreated, the estimated risk for a coronary event is:

  • 50% for men by 50 years of age
  • 30% for women by 60 years of age

In most countries, an estimated 14-34 million people have FH. 200,000 people die from CVD each year.

Discuss with your doctor if you

  • Experience a cardiovascular event
  • Have high “bad” cholesterol
  • Have a family history of early heart attack or stroke

Diagnosing FH

Your doctor may consider various factors when diagnosing FH. Diagnosis usually begins with a blood test. This will test your total cholesterol, including bad cholesterol, “good” cholesterol (high-density lipoprotein-cholesterol or HDL-C) and triglycerides.

Once a family member has been diagnosed, or if diagnosis is uncertain, genetic testing can help confirm diagnosis and identify affected relatives. Early diagnosis is important.

References

1. What is FH? (factsheet). FH Foundation. Available from: http://thefoundation.org/about-fh/what-is-fh/. Last accessed 20 July 2014.
2. What are the risks with FH?. FH Foundation. Available from http://thefhfoundation.org/about-fh/what-are-the-risks-with-fh/. Last accessed 12 December 2014.
3. Goldberg AC, Hopkins PN, Toth PP, et al. Familial hypercholesterolemia: screening, diagnosis and management of pediatric and adult patients. J Clin Lipidol. 2011;5(3 suppl):S1-S8.
4. Børge G. Nordestgaard, M. John Chapman, et al. Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease Consensus Statement of the European Atherosclerosis Society. European Heart Journal. Aug 2013,DOI: 10.1093/eurheartj/eht273
5. Youngblom E, Knowles JW. Familial Hypercholesterolemia. 2014 Jan 2. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2015. Available from: http://www.ncbi.nlm.nih.gov/books/NBK174884/
6. Familial Hypercholesterolaemia. Patient UK. Available from http://www.patient.co.uk/health/familial-hypercholesterolaemia. Last accessed 5 January 2015.
7. Mundal, Liv. Mortality Among Patients With Familial Hypercholesterolemia: A Registry-Based Study in Norway, 1992-2010. J Am Heart Assoc. 2014; 3: e001236.
8. Klose, G., Laufs, U., Ma?rz, W., et al. Familial Hypercholesterolemia: Developments in Diagnosis and Treatment. Deutsches A?rzteblatt International. 2014′ 111(31-32), 523–529.

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