Homozygous Familial Hyperholesterolemia (HoFH) is Underdiagnosed and Undertreated скачать в хорошем качестве

Homozygous Familial Hyperholesterolemia (HoFH) is Underdiagnosed and Undertreated

Mary McGowan, MD, chief medical officer of the Family Heart Foundation provides an overview of the CASCADE registry focused on patients with homozygous familial hypercholesterolemia (HoFH). HoFH is a rare genetic disorder that results in severe impairment of the low-density lipoprotein receptor (LDL-R). The end result is extremely high levels of cholesterol (i.e., less than 400 mg per dL or 10mmol per L ) that is very difficult to control with standard lipid lowering strategies. In most cases, genetic mutations in both LDLR genes are responsible for the condition. Historically, the outlook for HoFH patients was dire but in the past decade, advances in our understanding of the disease have led to numerous medications now available to better manage this condition, including evolocumab, lomitapide, and evinacumab. While those advances have improved outcomes, the recent report from the CASCADE registry published in the Journal of the American Heart Association indicates that more effort is needed to diagnose and manage these patients more efficiently. In the registry, atherosclerotic cardiovascular disease and supravalvular and aortic valve stenosis were present in 78.4% and 43.8% adults with HoFH at the beginning of their enrolment. Furthermore, despite multiple lipid-lowering treatment options, low-density lipoprotein cholesterol goals were achieved in only a minority of patients. Similar trends were observed in children with hoFH. The study also observed that many undiagnosed persons (n=277) in the Family Heart Database had profiles similar to patients with HoFH. The study concluded that HoFH remains challenging to treat and is systemically underdiagnosed and undertreated. For more information about this and other rare cardiovascular disorders, visit checkrare.com/diseases/heart-diseases/ Reference Cuchel M et al. Contemporary homozygous familial hypercholesterolemia in the United States: insights From the CASCADE FH registry. J Am Heart Assoc. 2023;12:e029175. doi: 10.1161/JAHA.122.029175.