Mary P. McGowan, MD, chief medical officer of the Family Heart Foundation provides an overview of 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/dL or 10mmol/L ) that are 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. Despite these advances, HoFH continues to be difficult to manage. Recently, Dr. McGowan was part of a team that published data from the CASCADE registry and noted that HoFH is systemically underdiagnosed and undertreated.

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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.