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

by Selleckchem | Jun 19 2023

This 2023 statement updates clinical guidance for homozygous familial hypercholesterolaemia (HoFH), explains the genetic complexity, and provides pragmatic recommendations to address inequities in HoFH care worldwide. Key strengths include updated criteria for the clinical diagnosis of HoFH and the recommendation to prioritize phenotypic features over genotype. Thus, a low-density lipoprotein cholesterol (LDL-C) >10 mmol/L (>400 mg/dL) is suggestive of HoFH and warrants further evaluation. The statement also provides state-of-the art discussion and guidance to clinicians for interpreting the results of genetic testing and for family planning and pregnancy. Therapeutic decisions are based on the LDL-C level. Combination LDL-C-lowering therapy-both pharmacologic intervention and lipoprotein apheresis (LA)-is foundational. Addition of novel, efficacious therapies (i.e. inhibitors of proprotein convertase subtilisin/kexin type 9, followed by evinacumab and/or lomitapide) offers potential to attain LDL-C goal or reduce the need for LA. To improve HoFH care around the world, the statement recommends the creation of national screening programmes, education to improve awareness, and management guidelines that account for the local realities of care, including access to specialist centres, treatments, and cost. This updated statement provides guidance that is crucial to early diagnosis, better care, and improved cardiovascular health for patients with HoFH worldwide.

Comments:

This 2023 statement provides important updates and guidance for the clinical management of homozygous familial hypercholesterolaemia (HoFH). HoFH is a genetic disorder characterized by extremely high levels of low-density lipoprotein cholesterol (LDL-C) and an increased risk of cardiovascular disease. The statement highlights the genetic complexity of HoFH and emphasizes the need to prioritize phenotypic features in the clinical diagnosis, placing less emphasis on genotype.

According to the updated criteria, an LDL-C level greater than 10 mmol/L (or 400 mg/dL) is suggestive of HoFH and should prompt further evaluation. This is a crucial step in identifying individuals who may require intervention and specialized care.

Therapeutic decisions are primarily based on the LDL-C level, and the statement emphasizes the importance of combination LDL-C-lowering therapy, which includes both pharmacologic interventions and lipoprotein apheresis (LA). This approach forms the foundation of HoFH management.

Furthermore, the statement highlights the potential benefits of novel therapies such as inhibitors of proprotein convertase subtilisin/kexin type 9 (PCSK9) and drugs like evinacumab and lomitapide. These therapies offer additional options to help achieve the LDL-C treatment goal or reduce the need for lipoprotein apheresis.

To address global inequities in HoFH care, the statement recommends the establishment of national screening programs to identify affected individuals early on. Education initiatives aimed at improving awareness among healthcare professionals and the general public are also recommended. The statement stresses the importance of developing management guidelines that consider local healthcare realities, including access to specialist centers, treatment options, and cost.

In addition, the statement provides guidance for clinicians on interpreting genetic testing results, as well as recommendations for family planning and pregnancy in individuals with HoFH. These aspects are crucial in providing comprehensive care and addressing specific challenges related to genetic counseling and management during reproductive stages.

Overall, this updated statement serves as a crucial resource for healthcare professionals involved in the diagnosis and management of HoFH. It offers guidance on early diagnosis, improved care, and better cardiovascular health outcomes for patients with HoFH worldwide.