Homozygous Familial Hypercholesterolemia Has Variable Presentation

FRIDAY, May 12, 2023 (HealthDay News) -- Homozygous familial hypercholesterolemia (HoFH) is a severe disorder with a variable clinical presentation, which appears to be systematically underdiagnosed and undertreated, according to a study published online April 29 in the Journal of the American Heart Association.

Marina Cuchel, M.D., Ph.D., from the Perelman School of Medicine at the University of Pennsylvania in Philadelphia, and colleagues analyzed data from 67 children and adults with clinically diagnosed HoFH from the Cascade Screening for Awareness and Detection FH Registry. In 43 patients, genetic diagnosis was confirmed. The number of patients with similar lipid profiles was estimated in a real-world setting using the clinical characteristics of genetically confirmed patients with HoFH to query the Family Heart Database.

The researchers found that adults had lower untreated low-density lipoprotein cholesterol levels than children (533 versus 776 mg/dL). Atherosclerotic cardiovascular disease and supravalvular and aortic valve stenosis were present in 78.4 and 25.5 percent of adults and in 43.8 and 18.8 percent of children, respectively. Despite multiple lipid-lowering treatments, low-density lipoprotein cholesterol goals were achieved by a minority of adults and children at most recent follow-up. Based on a query of the Family Heart Database, 277 individuals were identified with a profile similar to those of patients with genetically confirmed HoFH. Eighteen percent were prescribed advanced lipid-lowering treatments and 40 percent were not receiving treatment; 20 percent had atherosclerotic disease; and diagnosis of FH was uncommon.

"We believe that pursuing neonatal screening should be considered," the authors write. "Such screening is likely to allow identification not only of children with HoFH but also their parents, who may be unaware of their own heterozygous FH diagnosis."

Several authors disclosed financial ties to the pharmaceutical industry.

Abstract/Full Text