We all know about high cholesterol, so what is Familial Hypercholesterolaemia?


This is a sponsored article which has been published in association with Sanofi.

Familial Hypercholesterolaemia, also known as FH, means that people affected have inherited high levels of cholesterol. [1] Around 1 in 500 people in the UK have this treatable, genetic condition, which is characterised by abnormally high cholesterol levels from birth; [2] however, it often goes undetected until it's too late.

A recent online study of 150 UK GPs, commissioned by Sanofi, discovered that about two out of five (39%) under-estimated the prevalence of FH and a further third (33%) recognise that there is a need for increased awareness among GPs. [3] Currently, 85% of people with FH remain undiagnosed and untreated, leaving them at risk of premature heart disease. [2] [4] 

Jules Payne, Chief Executive of HEART UK - The Cholesterol Charity said: " FH is an inherited condition which leads to exceptionally high cholesterol levels, often double or three times those of the general population. It is not caused by an unhealthy lifestyle, but is passed from generation to generation through a "faulty" gene. Early diagnosis and effective treatment reduces the risk of heart disease and can help ensure that people with FH have a normal life expectancy ."

A new campaign launched by Sanofi UK, with the endorsement of HEART UK, called Heart of The Family (www.heartofthefamily.co.uk) aims to increase awareness of FH and encourage early diagnosis and testing of family members as prompt diagnosis and appropriate treatment can help save lives. [1]

So, what exactly is FH and why is it so important that people know about it?

1. FH is a common genetic condition occurring in at least 1 in 500 people in the UK [2] [5]

However, 85% of people with FH remain undiagnosed and untreated, putting them at increased risk of early heart disease due a build-up of fatty deposits (bad cholesterol) in their blood vessels. [2] [4] 

2. It is an inherited condition

FH is caused by an inherited altered gene leading to exceptionally high cholesterol levels in the blood, often double and sometimes four times those of the general population. [1]

3. Familial means that it runs in families [5]

It is passed from a parent to their child, and the disease can usually be traced over several generations.

4. Each child has a 50% risk of inheriting FH if one of their parents has the faulty gene [1] [6]

Most people with FH have inherited a defective gene from one parent and a normal gene from the other.

5. What are the indicators of FH?

There are two main indicators of an FH diagnosis: [5]

1. Abnormally high levels of cholesterol in the blood

2. Family history of high cholesterol or early heart disease (including heart attacks) and stroke

Sometimes there are also visible signs of FH, especially when bad cholesterol is very high, which can include: [6]

  • Swollen tendons on the back of the ankle and/or hand
  • Yellow deposits in the skin around the eyes
  • A white deposit of cholesterol in the shape of an arc around the coloured part of the eye

However, not everyone will have outward signs of FH.

6. Importance of family screening [2]

Once an FH diagnosis is confirmed, it is important that all family members including siblings, children, parents, grand-parents and first cousins are tested for FH.

7. Hypercholesterolaemia means high blood cholesterol

The type of cholesterol that is specifically increased in FH is low-density lipoprotein cholesterol (LDL-C), sometimes referred to as 'bad' cholesterol. [5] 

8. FH is not caused by an unhealthy lifestyle

Although high cholesterol is often linked to a poor diet and lack of exercise, people with FH will have had high cholesterol from birth. [2]

9. FH cannot be cured but it is treatable [1] [5]

The risk of heart disease caused by FH can be reduced, before fatty deposits build up and begin to block blood vessels, by:

  • Changing aspects of one's lifestyle, e.g. stopping smoking, only drinking alcohol and sugary drinks in moderation and exercising regularly
  • Diet modification to include heart-healthy foods
  • Prescription of cholesterol-lowering medications.

10. What happens if FH is left untreated?

If left untreated, approximately 50% of men and 30% of women with FH will have developed heart disease by the time they are 50 and 60 years old respectively due to a life-long exposure to high cholesterol. [2]

To hear from families and people living with FH, visit www.heartofthefamily.co.uk to watch their stories. These videos are produced and funded by Sanofi.

[1] Heart UK. Familial Hypercholesterolaemia. Available at: http://heartuk.org.uk/fh-familial-hypercholesterolemia [Last accessed September 2015].

[2] NICE, Identification and management of familial hypercholesterolaemia. Clinical Guidelines 71. 2008. Available at: guidance.nice.org.uk/cg71 [Last accessed September 2015].

[3] Sanofi data on file, May 2015, reference number: SAGB.CMR.15.05.0643.

[4] Heart UK. Familial Hypercholesterolaemia. Treatment for Familial Hypercholesterolaemia: FH Facts and Figures. Available at: http://heartuk.org.uk/fh-familial-hypercholesterolemia/treatment-for-familial-hypercholesterolaemia-fh [Last accessed September 2015].

[5] Heart UK. Familial Hypercholesterolaemia: An educational booklet for people with familial hypercholesterolaemia. Available at: http://heartuk.org.uk/files/uploads/HeartUK_FH_LowResFINAL2015.pdf [Last accessed September 2015].

[6] The British Heart Foundation in association with Heart UK, 2014. Life with Familial Hypercholesterolaemia. Available at: http://heartuk.org.uk/files/uploads/FINAL_COPY2014_Life_with_Familial_Hypercholesterolaemia.pdf [Last accessed September 2015].