Breaking news – Rare Lipid Disorder Statement published

New European Atherosclerosis Society Task Force Statement on rare lipid dyslipidaemias

October 02, 2019, Gothenburg, Sweden – Advances in gene testing offer a ‘precision medicine’ approach to developing new therapies for rare lipid dyslipidaemias. Yet as each of these conditions may only affect about 50 in 100,000 people, diagnosis and treatment remains a challenge. With this in mind, this European Atherosclerosis Society (EAS) Task Force has provided practical clinical guidance specifically for people with either extremely low or extremely high plasma levels of either low-density lipoprotein cholesterol (LDL-C), triglycerides, or high-density lipoprotein cholesterol (HDL-C). This new Task Force Statement is now published in The Lancet Diabetes & Endocrinology.

Commenting on the need for this guidance, lead author Professor Robert A. Hegele, Robarts Research Institute, Western University, Ontario, Canada, said: ‘The decreasing costs of DNA sequencing has renewed interest in the rare lipid dyslipidaemia field. Yet, the pace of change has overlooked many of the uncertainties that clinicians already have, as they may only see one or two affected people in their entire careers. We provide important practical information to address the questions typically posed by clinicians, to improve the underdiagnosis and undertreatment of these rare conditions.’

Rare lipid disorders may only affect few individuals, but their care poses a substantial health burden, not only to patients and their families, but also to all those in the care pathway. As most are inherited, it is not surprising that genomic or DNA sequencing has played a key part in driving the development of new treatments. This process involves decoding the order of DNA nucleotides that make up the individual’s genome, allowing the complete DNA sequence to be identified.

Yet many clinicians are unsure whether this is a prerequisite for diagnosis or treatment of rare lipid dyslipidaemias. There are also few registries that can provide comprehensive information about these disorders.

‘Counter to usual practice, evidence-based management of rare lipid dyslipidaemias is a challenge. These subjects are rarely seen, and clinical characteristics may vary widely between affected people. Therefore, clinicians need new guidance to help them recognise and approach these conditions, to avoid undue delays in treatment,’ noted Professor Alberico Catapano, University of Milan, Italy, Co-Chair of this EAS Task Force.

This EAS Task Force Statement takes a pragmatic approach to these issues. Information on the pathophysiology of these conditions provides important scientific background, and practical algorithms offer an accessible guide to definitive diagnosis. Once identified, the EAS Task Force emphasises that for most people with rare lipid dyslipidaemias, treatment is based on clinical and biochemical features and does not require gene testing.

Adoption of this guidance will undoubtedly help to improve the burden associated with the care of people with rare lipid dyslipidaemias. ‘One of the recommendations is for referral to specialist lipid centres which offer multidisciplinary teams and accessible information. This will be critical to improving the care and cost of these rare lipid disorders,’ said Professor Jan Borén, University of Gothenburg and Sahlgrenska University Hospital, Gothenburg, Sweden.

Hegele RA, Borén J, Ginsberg HN, Arca M, Averna M, Binder C, Calabresi L, Chapman MJ, Cuchel M, von Eckardstein A, Frikke-Schmidt R, Gaudet D, Hovingh GK, Kronenberg F, Lütjohann D, Parhofer KG, Raal FJ, Ray KK, Remaley AT, Stock JK, Stroes ES, Tokgözoglu L, Catapano AL. Rare Dyslipidaemias: From Phenotype to Genotype to Management. A European Atherosclerosis Society Task Force Consensus Statement. The Lancet Diabetes & Endocrinology 2019; DOI:

Notes for editors:

About the European Atherosclerosis Society

The EAS was founded in 1964 with the mission to “advance and exchange knowledge concerning the causes, natural history, treatment and prevention of atherosclerotic disease”. With atherosclerosis becoming an increasingly important concern as European populations grow older, the work of the Society is today more relevant than ever. For further information:

About this EAS Task Force

This EAS Task Force of internationally renowned experts in atherosclerosis, cardiovascular disease, and lipids was convened in June 2018 and led by Professor Alberico L. Catapano, University of Milan and IRCCS MultiMedica, Milan, Italy and Professor Henry N. Ginsberg, Columbia University, New York, USA.

Logistic support for travel was provided by the EAS. There were no other sources of funding.