Recent publications from the EAS on FH

Familial hypercholesterolaemia in children and adolescents from 48 countries: a cross-sectional study

Familial hypercholesterolaemia is a monogenic disorder with a global prevalence of 1 in 311 people, resulting in lifelong increased LDL cholesterol (LDL-C) concentrations and risk of premature atherosclerotic cardiovascular disease (ASCVD).^1,2 In 2021, the European Atherosclerosis Society Familial Hypercholesterolaemia Studies Collaboration (FHSC) reported that adults with familial hypercholesterolaemia were diagnosed between age 40 years and age 49 years, with more than one in six adults already having established ASCVD.² However, only 2·1% of adults were diagnosed in childhood or adolescence;² hence, undetected familial hypercholesterolaemia might be responsible for one in ten myocardial infarctions under age 50 years.³ Identification of people with familial hypercholesterolaemia in childhood and early initiation of lipid-lowering medication (LLM) can substantially mitigate the risk of premature ASCVD, enabling a life course that is equivalent to the general population as opposed to affected parents or grandparents, who are predominantly diagnosed with familial hypercholesterolaemia after an ASCVD event.^2–7 Despite these compelling data, health-care systems worldwide identified less than 10% of individuals of any age with familial hypercholesterolaemia.^1,2 As one child is born with familial hypercholesterolaemia every minute,⁸ approaches to early detection should be revised to reduce the deficit between prevalence and detection.

Currently, a quarter of the global population with familial hypercholesterolaemia are estimated to be children or adolescents, offering a unique opportunity to alter the future burden of ASCVD that is attributable to familial hypercholesterolaemia.⁹

We aimed to characterise the child and adolescent population with heterozygous familial hypercholesterolaemia (HeFH) and to provide evidence-based insights that might guide future public health approaches to detecting and managing familial hypercholesterolaemia early in life.

Read the paper in full

The Lancet. https://doi.org/10.1016/S0140-6736(23)01842-1.

Published: December 13, 2023

Familial hypercholesterolaemia (FH) is the most common inherited lipid disorder, affecting about one in 300 people worldwide. If untreated, elevated low-density lipoprotein cholesterol (LDL‑C) levels from birth confer an increased risk of premature atherosclerotic cardiovascular disease. Early detection and treatment are therefore crucial to reduce the burden of preventable cardiovascular complications. Unfortunately, as demonstrated by the European Atherosclerosis Society (EAS) Familial Hypercholesterolaemia Studies Collaboration (FHSC) global registry in over 42,000 adults, late diagnosis (in the 40s) is usual.

Universal cholesterol screening in early life has been advocated as an effective strategy, first in 1998 by the World Health Organization as a public health priority in FH care, and more recently, by the World Heart Federation and the European Commission Public Health Best Practice Portal, the latter which recommended paediatric FH screening as one of the best practices in non-communicable disease prevention. In reality, however, this vital opportunity to impact the long-term health of children with FH is missed, as demonstrated by latest data from the FHSC, published recently in The Lancet.  

Read more

Global FHSC registry makes the case for universal cholesterol screening of children for familial hypercholesterolaemia

The Lancet. https://doi.org/10.1016/S0140-6736(23)01842-1.

Published December 13, 2023

Finding children with familial hypercholesterolaemia (FH), the most common inherited lipid disorder, relies on family cascade screening, usually after a parent or relative has a heart attack, as physical signs of FH in children are uncommon, meaning that detection is delayed in most. These were the key findings from the European Atherosclerosis Society Familial Hypercholesterolaemia Studies Collaboration (FHSC) global registry, including nearly 12,000 children with FH from 48 countries, which was published in The Lancet. As early detection and treatment of FH are essential to prevent heart attacks associated with high cholesterol in later life, these data make the case for a paradigm shift to universal screening in children to avoid delays in detection.

Read more

2023 Update on European Atherosclerosis Society Consensus Statement on Homozygous Familial Hypercholesterolaemia: new treatments and clinical guidance

In 2014, the European Atherosclerosis Society published a consensus statement specifically focused on homozygous familial hypercholesterolaemia (HoFH) (1), aiming to improve the care of individuals with this rare and difficult-to-treat condition. This statement subsequently catalysed initiatives to refine what is meant by ‘HoFH’ in terms of genetics, new therapeutic approaches, as well as a global registry on HoFH care to inform health policy. The Homozygous Familial Hypercholesterolaemia International Clinical Collaboration (HICC) registry, an international network of healthcare providers managing HoFH patients, provided important information on the burden of HoFH. With data from over 750 HoFH patients across 38 countries (2), the HICC  registry showed that patients were diagnosed too late (median age of 12 years), when one in 10 had already experienced a coronary event. Treatment disparity between high and non-high-income countries was also evident, impacting patient outcome, with a first cardiovascular event occurring about a decade earlier among those in less affluent versus high income countries (2).

The 2023 update to this HoFH consensus statement has addressed several areas of persistent concern (Box 1) (3). A key strength is provision of updated diagnostic criteria for HoFH, with the recommendation to prioritise phenotypic features over genotype. Importantly, an untreated low-density lipoprotein cholesterol >10 mmol/L (>~400 mg/dL) is suggestive of HoFH and should prompt further evaluation.

Read the paper in full

New insights in the genetics of FH discussed by Prof. Mafalda Bourbon

Mafalda Bourbon is a senior researcher at the National Institute of Health in Portugal (INSA), where she serves as the coordinator of the R&D Unit and Head of the Cardiovascular Research Group within the Department of Health Promotion and Prevention of Non-Communicable Diseases.

As a leading researcher in the field of genetics of familial hypercholesterolemia (FH), her work has significantly enhanced the identification, functional characterization, and interpretation of variants found in patients with a clinical diagnosis of FH and other dyslipidemias.

In this lecture, she will explore the most recent advances in the genetic diagnosis of FH.

To the Open Lecture by Prof Mafalda Bourbon