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Frequently asked questions about Familial Hypercholesterolaemia

Learn more about inherited high cholesterol, also known as familial hypercholesterolaemia or FH. 

Heart of the Family

What is Familial Hypercholesterolaemia (FH)?

FH is an inherited condition where an altered gene(s) causes exceptionally high cholesterol levels in the blood.1 A person with FH has the condition from the time they are born and therefore has high levels of cholesterol in their blood from birth.2

There are two forms of FH: heterozygous familial hypercholesterolaemia (HeFH) - inherited high cholesterol levels passed down from one parent; and homozygous familial hypercholesterolaemia (HoFH) - inherited high cholesterol levels passed down from both parents. This article focuses on HeFH as this form of FH is more common.2

The type of cholesterol that is specifically increased in FH is low-density lipoprotein cholesterol (LDL-C), sometimes called ‘bad’ cholesterol. In FH, very high levels of LDL-C can block or narrow some blood vessels (arteries) and increase the risk of heart disease at an early age.3

Who does FH affect?

FH is an inherited, treatable, genetic condition that occurs in approximately 1 in 500 people in the UK.2 Due to the fact that FH is a condition that is present from the time someone is born, this means that children, as well as adults, can have FH.2

FH does not discriminate against sex or age so it is important that suspected FH is diagnosed as early as possible.2

What causes FH?

FH is not caused by an unhealthy lifestyle.1 It is passed from generation to generation through a faulty or altered gene.1 Most people with FH have inherited a defective gene from at least one parent and therefore will have had high levels of cholesterol from birth.3

FH is hereditary so it runs in families. If a family member has HeFH, it most likely means that they won’t be alone – others will also have FH, even if they haven’t yet been tested and diagnosed.3

A child has a 50% risk of inheriting FH if one of their parents has the faulty gene.It is therefore vital that family members are tested for FH as early as possible.

What are the signs and symptoms of FH?

FH often goes undetected until it’s too late.1,3 Signs and symptoms can include:4

  • Abnormally high cholesterol levels
  • A family history of high cholesterol levels or early heart disease, including heart attacks and stroke  (consider your parents, grandparents, aunts and uncles, and first cousins)
  • In some cases fatty deposits can appear, usually:
    • under the eyes or in the eyelids
    • as swellings on the tendons on the back of the hands
    • or as a swelling on the achilles tendon on the back of the ankle.

How is FH diagnosed?

FH is generally diagnosed by a healthcare professional who will take into account family history, cholesterol levels as well as identifying any physical symptoms. If your GP suspects FH, you will be referred to a specialist for confirmation of diagnosis. This can be done via a genetic test.

If you or your family have a history of high cholesterol levels, heart disease or early heart attacks, visit your doctor to find out your cholesterol level and discuss getting tested for FH. If a diagnosis is confirmed, it is important that all family members including siblings, children, parents, grand-parents and first cousins are also tested for FH.2

Why is diagnosing FH so important?

Early diagnosis and treatment can help to ensure that people with FH have a normal life expectancy and break the family cycles of premature heart disease.1

However, due to a lack of awareness 85% of people with FH remain undiagnosed and untreated, putting them at increased risk of early heart disease and death.1

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 a life-long exposure to high cholesterol.2

How is FH treated?

FH is a condition that cannot be cured.3 However, it can be well managed once diagnosed.3

The risk of cardiovascular disease in FH can be reduced, before fatty deposits build up and begin to block blood vessels, by:3

  • Changing aspects of lifestyle, e.g. stopping smoking, drinking alcohol and sugary drinks in moderation and exercising regularly
  • Diet modification to include heart-healthy foods
  • Taking any cholesterol-lowering medicines as prescribed by your doctor

What should you do if you think you may have FH?

If you or your family have a history of high cholesterol levels, heart disease or early heart attacks, visit your doctor to find out your own cholesterol level and discuss getting tested for FH. People who are aware that FH runs in their family should themselves be tested, along with extended family members including grand-parents, parents, siblings, first cousins and children.

How does FH affect family life?

A campaign called Heart of the Family aims to raise awareness of FH and includes the personal stories of four families who are living with FH. To find out more, please visit the Heart of the Family section to hear about what it’s like to live with FH, how to manage the condition and why early diagnosis is so important for all members of the family – young and old.

This campaign is developed and funded by Sanofi UK, with the endorsement of HEART UK - The Cholesterol Charity.

Heart of the Family


References

  1. Heart UK. Familial Hypercholesterolaemia. Available at: http://heartuk.org.uk/fh-familial-hypercholesterolemia [Last accessed 27 February 2017].
  2. NICE. Familial hypercholesterolaemia: identification and management. Clinical guidance [CG71]. Available at: https://www.nice.org.uk/guidance/cg71 [Last accessed, 27 February 2017].
  3. 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 27 February 2017].
  4. 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 27 February 2017].