Familial Hypercholesterolaemia

Also known as

  • FH

Inherited high cholesterol is not caused by an unhealthy diet or lifestyle, but is passed from generation to generation through a “faulty” or “altered” gene. Inheriting FH leads to exceptionally high cholesterol levels, often double and sometimes four times those of the general population. In people with FH, raised levels of cholesterol lead to early heart disease, if left untreated. But early diagnosis of FH and effective treatment reduces the risk of heart disease.

Condition details

- Early Heart Disease in a close family member - Raised total cholesterol in an adults over 7.5mmol/l - LDL cholesterol over 4.9mmol/l - Identification of a disease causing known gene alteration Signs of cholesterol being deposited in soft tissues such as tendons and the eye.

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Photos of affected individuals

Click images to enlarge.

  • No baby imageBaby
  • No toddler imageToddler
  • No child 4-10 imageChild 4-10
  • No child 10-18 imageChild 10-18
  • No adult imageAdult

Typical age range of first manifestation

  • Does not manifest in Baby
  • Does not manifest in Toddler
  • Does not manifest in Child 4-10
  • Does not manifest in Child 10-18
  • Does not manifest in Adult


Lay terms Clinical terms
  • early heart disease
  • raised cholesterol
  • heart disease
  • cholesterol
  • CVD
  • stroke
  • heart attack
  • heart
  • blood fat
  • cardiovascular disease
  • FH
  • familial hypercholestrolaemia
  • dyslipidaemia
  • simon broome
  • genetic testing
  • Lipids
  • HDL
  • LDL
  • PCSK9
  • Statin
  • Statins
  • cascade testing

Affected genes identified to date

  • LDL receptor PCSK9 APOB

Inheritance patterns

Is Autosomal dominant

Children of an affected parent have a 1 in 2 chance of inheriting the condition.

Are carriers affected?

How many are affected?

between 1 in 250 and 1 in 500

Support groups and organisations

Miss Nicola Streak
HEART UK - The Cholesterol Charity
7 North Road
United Kingdom
Tel 01628777046
Facebook www.facebook.com/heartukcharity

Known experts

No experts found

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