Familial Hypercholesterolemia (FH) – Causes, Symptoms and Testing

5th March 2021

Familial Hypercholesterolemia (FH) – Causes, Symptoms and Testing

Familial hypercholesterolemia (FH) is a genetic heart condition which effects how the body recycles LDL (low-density lipoprotein) also known as ‘bad cholesterol.’  Anyone with FH will have very high LDL levels in their blood.


FH is a genetic heart condition that is passed down through families and is caused by one or more faulty gene mutations. Around 1 in 250 of the UK population has the condition but most people are unaware they have it.

It is commonly caused by a mutation in the gene for the LDL cholesterol receptor, which is involved in passing LDL from the body. Mutations in other genes can also cause inherited high cholesterol. Those genes include the PCSK9 gene and the gene for Apolipoprotein B. If you inherit a specific type of mutation in any of these three genes, you can develop FH.

Katie Coyle talks Familial Hypercholesterolemia

While everyone’s cholesterol levels tend to rise with age, those with FH have LDL levels that start high and go even higher over time.  Having FH means you’re at a greater risk of getting heart and circulatory disease at an early age and if left untreated, people with FH have 20 times the risk of developing heart disease.

What are the main symptoms of Familial Hypercholesterolemia?

Symptoms of FH

It is not easy to diagnose FH but it is easy to identify using the correct test at any stage in life.   Heart.org state that most people are ‘often diagnosed based on a combination of physical exam findings and lab results, as well as personal and family history.’

A medical professional may suspect you have FH if:

  • a routine blood test shows a high cholesterol level
  • you have a heart attack or stroke, especially if it happens at a young age
  • family history of premature heart disease or stroke
  • family members have been diagnosed with FH

Some physical changes that may occur in the body include:

Tendon Xanthomata

BHF Tendox Xanthormata

These are swellings made from cholesterol on your knuckles, knees or your Achilles tendon at the back of your ankle.


BHF Xanthelasmas

These are small lumps of cholesterol near the inner corner of your eye. They are usually yellow in colour.

Corneal Arcus

BHF Xanthelasmas

This is a pale white ring around your iris, the coloured part of your eye. If you’re under 50 years old and have corneal arcus, it’s a strong sign that you have FH.


The first step to finding out whether you have FH is to get tested.  Randox Health carry out Genetic Testing using the Randox Biochip which detects 40 gene mutations associated with inherited cardiac conditions including cardiomyopathies, arrhythmias & hypercholesterolaemia.

There isn’t a cure for FH but it can be treated and by seeking help right away, you can live a longer, healthier life. The earlier you are diagnosed, the earlier you can start cholesterol lowering treatments that can slow down or prevent heart disease.

blood test

Some treatments for FH include being prescribed medicine to lower cholesterol like statin or ezetimibe although people often find they can bring their levels of cholesterol down by making the following changes to their lifestyle:

  • Eating a balanced diet by reducing your intake of saturated fats
  • Maintaining a healthy weight
  • Being more physically active

Genetic Testing with Randox Health

Randox Genomics Services, uses the world’s most extensive heart health testing panels, including 20 more tests for heart health alone including Apolipoprotein a1bc and Lipoproteins small A.   Our testing can help us understand the biochemical level of your heart and whether you are at risk of developing FH.  The process is highlighted below:


A Randox Health scientist will talk you through the test process and discuss the details of the genetic tests being undertaken*

Sample Collection

Genetic testing requires a simple blood sample; no specific preparations are necessary.


DNA analysis is performed within our own laboratory in Northern Ireland, with results available within 6 weeks.


You will receive a written report highlighting key variants identified with significance for risk of disease, including clinical interpretation and advice regarding next steps*

*The scientist may ask questions about your family history to build a more detailed picture of your genetic risk and discuss with you the potential impact of genetic results for both you and your family.

*Please note that Randox Health does not provide Genetic Counselling services. For detailed advice on the interpretation, inheritance patterns and clinical impact of your genetic results, we recommend that you see a genetic counsellor or another appropriate specialist.

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