Familial Hypercholesterolemia - what you need to know

Improving FH diagnosis is a key priority of the NHS Long Term Plan, but what is it and how do we find the undiagnosed?

What is FH? 

Familial hypercholesterolaemia, also known as FH, is an inherited condition that can cause extremely high cholesterol levels and heart disease at a young age. Although FH has an estimated prevalence of 1/250 in the UK, it’s significantly underdiagnosed and only 7% of patients affected are currently identified nationally. 

Early detection and preventative treatment is key to reducing the risks of FH, and the NHS Long Term plan aims to increase diagnosis rates from 7% to 25% in the next five years. 

What are the symptoms of FH? 

The reasons that FH is underdiagnosed are complex, often considered to be because of workforce capacity, limited clinical tools and nascent service delivery models. However, there are symptoms which indicate a patient has it. 

One of the main signs of FH is high cholesterol levels, as well as a family health history of early heart disease or heart attacks. Other signs of FH can occur in different parts of the body including:

  • Tendon xanthomata: swellings made from cholesterol on knuckles, knees or Achilles tendon.
  • Xanthelasma: small lumps of cholesterol near the inner corner of the eye.
  • Corneal arcus: a pale white ring around the iris.

The MendelScan Advantage 

NICE recommends using the Simon Broome diagnostic criteria to aid the clinical diagnosis of FH. Using this guidance and the data in patient EHR, MendelScan, identifies patients within two groups:

  1. Simon Broome “Definite” who are eligible for referral according to local pathway. 
  2. Simon Broome “Possible” for whom more data is needed to determine next steps.

Mendelian -  accelerating rare disease diagnosis

Our mission is to end the diagnostic odyssey for rare disease patients in primary care and to build towards a future where every patient can expect the right treatment, from the right specialist, at the right time. By diagnosing patients earlier, they benefit from targeted treatments and cascade testing for their families. 

MendelScan is currently implemented in over 45 GP practices across the UK, benefiting an estimated 450,000 patients and significant further roll-out is planned for this year. 

Whilst the NHS Long Term Plan commits to improving access to genetic testing for FH in order to reduce deaths from premature cardiovascular disease, the health system needs a better solution to identify patients at scale and meet their target increase diagnosis rates from 7% to 25% in the next five years. 

Further reading

National Institute for Health and Care Excellence/Simon Broome Criteria 
NHS Long Term Plan 
British Heart Foundation information and support for FH patients and their families 

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