A global team of experts, assembled by the International Atherosclerosis Society, has released groundbreaking guidance aimed at significantly improving the care and management of Familial Hypercholesterolaemia (FH), a genetic condition that dramatically increases ‘bad’ cholesterol levels and the risk of early heart disease.

"The new guidelines found that awareness campaigns targeting young people, high-risk individuals, healthcare professionals and the community were vital."

Winthrop Professor Gerald Watts, UWA Medical School

The evidence-based guidance was published in the top-rated journal Nature Reviews Cardiology and brings together the most up-to-date scientific evidence to provide comprehensive recommendations for both detecting and managing this relatively common condition.

Winthrop Professor of Cardiometabolic and Internal Medicine from the UWA Medical School Gerald Watts, co-chair of the guidance, said that despite its significant impact on public health, FH remained largely underdiagnosed, with only 10 per cent of an estimated 35 million affected individuals globally currently identified.

“Even more concerning is that more than 80 per cent of those treated for FH fail to reach recommended blood levels of LDL or ‘bad’ cholesterol,” lead author Professor Watts said.

“The urgency to address FH care has prompted this international initiative and aims to bridge the gap between knowledge and practice, ensuring that individuals with FH receive the best care they need.”

In addition to recommendations, the new guidance emphasises practical implementation strategies that are designed to overcome barriers and leverage opportunities to deliver effective care for those with the condition.

Key recommendations include that health services for those with FH should be patient-centred, safe, equitable, timely and cost-efficient; that evidence-based practices should be adapted to local needs; and specialised centres for severe FH cases be established.

“Because of differences among countries, a contextual strategy will be required for implementing the guidance,” Professor Watts said.

“The new guidelines found that awareness campaigns targeting young people, high-risk individuals, healthcare professionals and the community were vital.

“General practitioners and primary care providers play a crucial role in FH care and we advised that their active involvement in screening, diagnosis and management is also essential for improving outcomes.”

Professor Watts said that by following the guidance and implementing its recommendations, the hope is to transform the lives of individuals with Familial Hypercholesterolaemia, preventing early heart disease, suffering and saving lives.