New study of homozygous familial hypercholesterolemia finds higher LDL-C levels in women
A new study on the sex-based differences in homozygous familial hypercholesterolemia (HoFH) uncovered new insights into low-density lipoprotein cholesterol (LDL-C) burden and treatment response among patients with this rare, high-risk condition.
The American Society for Preventive Cardiology (ASPC) celebrated the research, calling it a "landmark multinational study." The post-hoc analysis of the ELIPSE open-label extension study was published in the American Journal of Preventive Cardiology (AJPC).[1]
"This important analysis highlights why sex-specific data matters, even in rare genetic conditions such as homozygous familial hypercholesterolemia. By rigorously examining differences in LDL-C burden and treatment response, this study advances more equitable, evidence-based preventive care," Khurram Nasir, MD, MPH, MSc, AJPC editor-in-chief and chief of cardiovascular prevention and wellness at Houston Methodist, explained in an ASPC statement.
He said the study was notable because half the patients were females and it focused on important sex-based differences in males and females with HoFH. The research also showed that treatment with evinacumab (Evkeeza), an ANGPTL-3 inhibitor developed by Regeneron Pharmaceuticals, led to substantial LDL-C reduction in HoFH patients of both sexes, regardless of genotype or background lipid-lowering therapy (LLT).
Overall, baseline LDL-C was significantly higher in women compared to men, but treatment showed decreased LDL-C levels in both sexes over 24 weeks.
"This observation was reported for the first time in patients with HoFHm," corresponding author Daniel Gaudet, MD, PhD, a researcher with the Université de Montreal and Genome Quebec Biobank, added in the same statement.
He added that the sex disparity of higher LDL-C levels in women was unexpected.
HoFH is a rare condition that causes extremely high LDL-C levels, which often exceed 500 mg/dL (13 mmol/L), and causes premature atherosclerotic cardiovascular disease (ASCVD). Its prevalence is between one in 400,000 to one in 160,000 people, but it might be higher in some patient populations. HoFH is caused by the presence of bi-allelic pathogenic variants in the LDL receptor (LDLR), apolipoprotein B (APOB) or proprotein convertase subtilisin/kexin type 9 (PCSK9) genes, resulting in a complete or partial impairment of LDL-C clearance from plasma via LDLR, the study's researchers explained.
Dave Fornell has covered healthcare for more than 17 years, with a focus in cardiology and radiology. Fornell is a 5-time winner of a Jesse H. Neal Award, the most prestigious editorial honors in the field of specialized journalism. The wins included best technical content, best use of social media and best COVID-19 coverage. Fornell was also a three-time Neal finalist for best range of work by a single author. He produces more than 100 editorial videos each year, most of them interviews with key opinion leaders in medicine. He also writes technical articles, covers key trends, conducts video hospital site visits, and is very involved with social media. E-mail: [email protected]