Language
English
Publication Date
1-1-2024
Journal
Global Heart
DOI
10.5334/gh.1316
PMID
38708402
PMCID
PMC11067975
PubMedCentral® Posted Date
5-3-2024
PubMedCentral® Full Text Version
Post-print
Abstract
Homozygous familial hypercholesterolemia (HoFH) is an ultra-rare inherited condition that affects approximately one in 300,000 people. The disorder is characterized by extremely high, life-threatening levels of low-density lipoprotein (LDL) cholesterol from birth, leading to significant premature cardiovascular morbidity and mortality, if left untreated.
Homozygous familial hypercholesterolemia is severely underdiagnosed and undertreated in the United States (US), despite guidelines recommendations for universal pediatric lipid screening in children aged 9–11. Early diagnosis and adequate treatment are critical in averting premature cardiovascular disease in individuals affected by HoFH. Yet, an unacceptably high number of people living with HoFH remain undiagnosed, misdiagnosed, and/or receive a late diagnosis, often after a major cardiovascular event.
The emergence of novel lipid-lowering therapies, along with the realization that diagnosis is too often delayed, have highlighted an urgency to implement policies that ensure timely detection of HoFH in the US. Evidence from around the world suggests that a combination of universal pediatric screening and cascade screening strategies constitutes an effective approach to identifying heterozygous familial hypercholesterolemia (HeFH). Nevertheless, HoFH and its complications manifest much earlier in life compared to HeFH. To date, little focus has been placed on the detection of HoFH in very young children and/or infants.
The 2023 Updated European Atherosclerosis Society Consensus Statement on HoFH has recommended, for the first time, broadening pediatric guidelines to include lipid screening of newborn infants. Some unique aspects of HoFH need to be considered before implementing newborn screening. As such, insights from pilot studies conducted in Europe may provide some preliminary guidance.
Our paper proposes a set of actionable measures that states can implement to reduce the burden of HoFH. It also outlines key research and policy gaps that need to be addressed in order to pave the way for universal newborn screening of HoFH in the US.
Keywords
Child, Humans, Cholesterol, LDL, Homozygote, Hyperlipoproteinemia Type II, Mass Screening, Neonatal Screening, United States, Infant, Newborn, k Homozygous Familial Hypercholesterolemia, Best Screening Practices, Universal, Newborn Screening
Published Open-Access
yes
Recommended Citation
Gidding, Samuel S; Ballantyne, Christie M; Cuchel, Marina; et al., "It is Time to Screen for Homozygous Familial Hypercholesterolemia in the United States" (2024). Faculty, Staff and Students Publications. 6725.
https://digitalcommons.library.tmc.edu/baylor_docs/6725