Screening Gaps Miss Childhood Heart Problems
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People with a rare genetic condition that causes extremely elevated levels of low-density lipoprotein cholesterol (LDL-C) may miss out on decades of treatment because of a lack of lipid screening in childhood, researchers reported at the 2022 annual meeting of the American Academy of Pediatrics (AAP). The condition, homozygous familial hypercholesterolemia (FH), raises the risk for atherosclerotic cardiovascular disease (ASCVD) as early as the first decade of life. Routine screening for FH is uncommon, however, the researchers said. Lack of familiarity with guidelines and limited access to lipid specialists have been cited as possible reasons for inconsistent screening practices.
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@erya To characterize patients with homozygous FH, McGowan and her colleagues examined data from 67 participants in the CASCADE-FH registry. The Family Heart Foundation created the registry in 2013, and 40 medical centers in the United States contribute data to the repository. The researchers had access to data about patients with homozygous FH from 20 centers in the registry. McGowan's group compared 16 patients with homozygous FH who enrolled in the registry when they were children and 51 patients who were adults at the time of their enrollment. Patients enrolled as children had a median age at diagnosis of 2 years (interquartile range [IQR], 2 - 3.5), whereas patients enrolled as adults had a median age at diagnosis of 12.6 years (IQR, 4.1 - 26.5).