Possible missed cases
As many as 1 in 250 people may have heterozygous FH, and 1 in 300,000 people may have homozygous FH, according to estimates. Patients with homozygous FH have two FH genes, one from each parent. In patients with homozygous FH, levels of LDL-C levels typically range between 400 and 1,000 mg/dL without treatment, which is four to 10 times higher than normal concentrations of the blood fat, according to the Family Heart Foundation.
“This study adds to a growing body of literature – including our own work – demonstrating that recommended universal screening occurs in barely 1 in 5 children. This means some patients are not being recognized as having treatable diseases,” said Justin H. Berger, MD, PhD, a pediatric cardiologist at Children’s Hospital of Philadelphia.
Even among children who are at the highest risk for early onset adult-type heart disease, only a quarter to two-thirds receive recommended screening, said Dr. Berger, who was not a member of the study team.
While Dr. Berger advocates universal lipid screening, improving screening rates in practice probably isn’t as simple as telling clinicians to screen more, he said. “Increasing testing will increase health care spending and the burden on busy primary care providers without addressing who will subsequently evaluate and manage children with abnormal lipid screening results,” Dr. Berger said.
Instead, clinicians may want to focus on screening patients who are at risk, which “could have dramatic benefits for their life-long cardiovascular health,” he said.
Dr. McGowan disclosed ties to Abbott and Regeneron, and her coauthors disclosed ties to Esperion Therapeutics and research funding from Regeneron and REGENXBIO. Dr. Berger disclosed no relevant financial relationships.
A version of this article first appeared on Medscape.com.