Study advocates for widespread screening for HoFH in the US

A recent study argues for the implementation of nationwide screening for homozygous familial hypercholesterolemia (HoFH) in the United States. The research underscores several important points regarding this rare genetic condition:

1. Urgent Need for Screening: The study highlights that HoFH, a severe form of high cholesterol leading to early cardiovascular disease, is underdiagnosed in the United States. The authors argue that systematic screening could identify affected individuals earlier and improve outcomes.
2. High Disease Burden: HoFH is characterized by extremely high levels of low-density lipoprotein cholesterol (LDL-C), which significantly increases the risk of early-onset atherosclerotic cardiovascular disease. The study reviews evidence showing that early diagnosis and treatment can prevent or delay these severe outcomes.
3. Potential Benefits of Early Detection: Early detection through screening can lead to timely intervention with advanced treatments, including new lipid-lowering therapies. The study presents data suggesting that proactive screening could reduce the overall healthcare costs associated with treating advanced cardiovascular disease.
4. Current Screening Gaps: The research points out that existing screening practices are insufficient for detecting HoFH, with many cases remaining unrecognized until significant health problems arise. The study advocates for integrating HoFH screening into standard preventive health measures.
5. Recommendations for Policy Changes: The authors call for policy changes to support the implementation of routine HoFH screening. They recommend including genetic testing as part of standard cholesterol screening protocols, particularly for individuals with a family history of early heart disease.
6. Support for Genetic Research: The study also emphasizes the need for further genetic research and public health initiatives to support HoFH screening and treatment strategies.

The full article can be found here.

Reference
Gidding SS, Ballantyne CM, Cuchel M, et al. It is Time to Screen for Homozygous Familial Hypercholesterolemia in the United States. Glob Heart. 2024;19(1):43. doi: 10.5334/gh.1316. PMID: 38708402; PMCID: PMC11067975.