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Cholesterol Awareness Month: Penningtons Manches supports campaign to raise awareness of ‘ticking time bomb’ genetic condition

Posted: 25/10/2018


October is National Cholesterol Month and the charity Heart UK is running a campaign called ‘Heart of the Family’, aimed at raising awareness of familial hypercholesterolaemia.

The clinical negligence team at Penningtons Manches is joining the campaign to raise awareness of the dangers of high cholesterol and this inherited genetic condition.

Many of us know that living a healthy lifestyle can help keep cholesterol levels under control, but many of us do not know that, for some people, high cholesterol is in their genes and a healthy lifestyle alone will not be enough to reduce it. Findings from the largest report to date on the global status of familial hypercholesterolaemia (FH) identify a lack of information on the condition and gaps in its screening and treatment, despite an increased prevalence of the condition in the global population.

FH is an inherited condition that affects approximately one in 250 people in the UK. It is caused by one or more altered genes, resulting in exceptionally high cholesterol levels which are usually present from birth and continue throughout life. This means that for people who do have FH, regardless of the healthy lifestyle they may lead, they can be at increased risk of a heart attack or stroke.

One of the most concerning points is that many healthy people are likely to be living their lives completely unaware that they have this underlying genetic condition, putting them at significantly higher risk of heart attacks independent of their lifestyle factors. In the UK, it is estimated that fewer than 20% of cases of FH are diagnosed and access to genetic testing is limited.

Unfortunately, in some cases, the only way FH is diagnosed is as a result of premature heart disease and death in the family which then triggers further investigation and genetic testing amongst families.

Some families are aware that they have a history of heart disease, but have never really investigated the root cause of it. It is important to raise awareness of this genetic condition and encourage people to talk about it.

Emma Beeson, a senior associate in the clinical negligence team at Penningtons Manches, explains the importance of supporting the campaign to raise awareness: “Many people don’t know that they have FH and are therefore unaware that they could potentially have a ticking time bomb. One of the indications that someone has the condition is that there may be healthy people in the family, ie those who exercise and do not smoke, that have suffered heart attacks or have high cholesterol levels at a fairly young age. Another indicator can be physical symptoms such as white lumps under the eyes which are small bits of cholesterol build-up or little lumps in the backs of the elbows or ankles.

“I have heard people say ‘I don’t need to worry about my cholesterol -  I’m fit and healthy. I eat a balanced diet. High cholesterol doesn’t affect me’, however, this is not necessarily the case. FH is a genetic condition and it could still affect you and your children, regardless of how healthy or fit you or they are.

“Anyone can develop high cholesterol as they age, but with FH the risk of heart disease is much higher. It is one of the most commonly occurring inherited conditions and so diagnosing and treating people with FH early can reduce the number of people who get coronary heart disease or die prematurely. I have experience of losing a loved one as a result of undiagnosed coronary heart disease. It is so important for the families of those affected that awareness is raised so that an accurate assessment, diagnosis, treatment and ongoing support from medical specialists is provided.” 

FH can be tested for by way of a simple blood test called a lipid profile. This is required to assess the levels of various blood fats and lipoproteins in the blood. If FH is suspected, there should also be a referral to a specialist for an assessment and gene testing. If a patient is diagnosed with FH, it is likely that some of their close family members will also have the condition and so they should be checked too.

Babies born to a parent with FH have a 50% chance of inheriting the condition, and they should therefore be tested at the earliest opportunity, but ideally before their 10th birthday. Sadly, many people who have FH are never diagnosed or are diagnosed later in life after a routine cholesterol test, following a heart attack or after someone has passed away in the family prematurely from coronary heart disease. The condition can be effectively and easily treated with a cholesterol-lowering statin or a different cholesterol-lowering drug. A new medicine called PCSK9 inhibitor is also now available for some people with FH. It is also essential that anyone with FH makes changes to their diet and lifestyle alongside any medical treatments prescribed. 


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