The unseen inheritance: understanding Familial Hypercholesterolaemia
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(1 June 2023) Familial Hypercholesterolaemia, or FH as its more commonly referred to, is an inherited genetic condition that means your liver can’t process cholesterol properly. This inability can lead to very high levels of cholesterol in your blood.

The condition is passed down through families, and is caused by variants (gene alterations) in one or more gene. If untreated, patients with FH have significantly increased risk of suffering from coronary heart disease at a very young age.

Whilst exercising and healthy eating habits are important, in people with FH, these measures are not usually enough to lower their cholesterol to a healthy level.

What’s The Story?

If someone has FH there is an ‘alteration’ (you may have also come across the words ‘fault’ or ‘mutation’) in one or more of the genes involved in breaking down cholesterol in the blood.

The liver produces cholesterol and this is transported around the body in the blood. This is then taken into the cells to be used or stored, with any excess returning to the liver to be broken down.

However, if someone has FH, this process is significantly affected, and Low-Density Lipoprotein (LDL) Cholesterol – sometimes referred to as ‘bad cholesterol’ – can’t quickly be broken down or removed from their blood.

This can lead to a build of fatty materials in their coronary arteries, known as atheroma. This build-up causes a narrowing of the arteries, making it more difficult for blood to flow to their vital organs, putting them at higher risk of heart attacks or strokes.

FH is also one of the most commonly inherited genetic conditions, and it’s estimated to affect 1-in-250 people – around 270,000 in the UK. Though most people don’t know they have it.

If one parent has FH then a person has a 50% / 1-in-2 chance of inheriting it, which means there is also a 1-in-2 chance of passing it on to their children.

FH is a ‘does exactly what it says on the tin’ name.

Familial: indicates it runs in the family – with it being passed on from parent to child, often over several generations

Hypercholesterolaemia: The ‘hyper’ element of the name signifies ‘too high’. ‘Cholesterol’ means cholesterol, a form of fat in the blood, and ‘aemia’ means ‘in the blood.

These will include, raised LDL cholesterol levels, often allied to a family history of early heart disease or heart attacks. As well as, on occasion, physical signs such as:

  • Tendon xanthomata: Bumps or lumps around your knees, knuckles, elbows or swollen or painful Achilles tendon
  • Xanthelasmas: Small, usually yellowish, lumps of cholesterol that build up in the skin around the bottom of your eye and on your eyelid.
  • Corneal arcus: A whitish-grey colour in the shape of a half-moon on the outside of your cornea

If a clinician suspects a patient may have FH they will refer them for genetic counselling and FH gene testing

There is no cure for FH but with careful management, including significant reduction of the cholesterol level, the risks of coronary heart disease and strokes can be significantly reduced.

Treatment is generally with medicines called statins, which help to reduce cholesterol levels.

Judith Hayward- GP, NEY GMS Primary Care Lead

What’s the NEY GMS & FH Story

The NEY GMS have been working with partners to improved access of patients to FH genetic testing. Our regional project in 21/22 focused on the establishment of a feasibility and service delivery model for a PCN-pharmacist led service offering Familial Hypercholesterolaemia testing to patients within the primary care setting. This project built on the that of the Academic Health Sciences Network (AHSN).

The NEY GMS are also working in partnership with the North Thames GMS to provide joint leadership for national education and training in 22/23.  This work focuses on driving improvement of genomic understanding and implementation of genomic test requesting through education and training of healthcare professionals.

 

 

There are three work packages:

  • Delivery of one-day, online interactive workshops in collaboration with the University of Northumbria.
  • Development of an online education for familial hypercholesterolaemia.
  • Exploring the enablers for pharmacists to demonstrate their competence to provide high-quality, consistent Familial Hypercholesterolemia (FH) genetic testing to patients

What Difference Will These Projects Make?

The aim of these projects are to support healthcare professionals (primary and secondary care) in developing their knowledge and skills in the care and management of patients and families with Familial Hypercholesterolaemia (FH). Providing earlier diagnosis for patients with FH by enabling genetic testing is within the NHS Long Term plan, so that they can receive treatment to lower their cholesterol and reduce the likelihood of developing heart disease.

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