Inherited high cholesterol: earlier diagnosis and better treatment

Familial hypercholesterolaemia (FH) is an inherited condition, which causes very high levels of blood cholesterol from birth. It is caused by faults in genes that help control cholesterol levels, and it affects up to one in 250 people in the UK. FH has very limited or no symptoms but, if left untreated, the build-up of cholesterol in the walls of arteries can lead to heart attacks and strokes at an early age. Up until then, the disease can go completely unnoticed – a silent timebomb. If you have untreated FH your risk of developing coronary heart disease is up to 13 times higher than someone who doesn’t have FH.

If FH is diagnosed early, people can take cholesterol-lowering drugs, like statins, from a younger age to help prevent heart attacks and strokes. To do this most effectively, we needed to find which faulty genes cause FH, so that individuals and their family members can be tested and treated. BHF Professor Steve Humphries and his team at University College London helped to make this happen.

Developing a test to identify faulty genes causing familial hypercholesterolaemia

BHF Professor Humphries and his team discovered many of the exact genetic faults that cause FH, and also established how frequently they occur. This has been crucial to identify people with FH and has helped us learn that FH was more common than previously thought – affecting around 1 in 250 people in the UK.

This work also allowed the team to design a blood test for the faulty genes so doctors could diagnose FH. They also showed that genetic testing for family members of a person with FH (a process called cascade testing) helped to spot more people with FH. Without cascade testing, most of these people would have no idea that they were at risk of a heart attack or stroke at a young age.

Professor Humphries set up the first testing service for FH in London in 1997, which in turn led to a three-year pilot screening service funded by the Department of Health between 2003 and 2006 –again led by Professor Humphries.

In 2008, Professor Humphries advised on national guidelines for doctors, which recommended that every patient with a diagnosis of FH should be offered a genetic test and their relatives should be traced and offered testing.

Rolling out cascade genetic testing for FH

In 2010, the BHF’s began to invest into cascade testing of FH in Wales, where we funded three nurses to develop FH genetic testing services across the country. We followed this with an investment across England and Scotland (Northern Ireland already had a FH service), funding 27 nurses across 12 sites.

Over the past decade, the BHF has invested over £2 million to help support the development of FH genetic testing services. This work has not only led to more than 3,500 people being diagnosed with FH, but has also helped demonstrate the value of cascade testing, as recommended by Professor Humphries.

Our work with the NHS and others has also meant that the expansion of genetic testing for FH is part of the NHS Long Term Plan (for England) and NHS Health Checks are also designed to spot people with possible FH.

Genetic testing, early diagnosis and treatment with statins can save lives, as well as reducing the costs of treating heart attacks and strokes that can be prevented.

First published 1st June 2021