July 07, 2016
2 min read

Heterozygous familial hypercholesterolemia hastens risk for CHD

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CHD onset in patients with high cholesterol levels caused by heterozygous familial hypercholesterolemia can be accelerated by decades, according to study data published in Circulation.

“Familial hypercholesterolemia (FH) affects up to one in 200 individuals in the United States, but previously the risks for atherosclerotic CVD among individuals with untreated FH ... had not been well quantified,” Amanda Marma Perak, MD, from the cardiology division, Ann & Robert H. Lurie Children’s Hospital, Chicago, and the preventive medicine department, Northwestern University Feinberg School of Medicine, said in an interview with Cardiology Today. “This study confirms that [those] who have high LDL due to underlying FH are at substantially elevated risk for atherosclerotic CVD. Our findings have public-health implications because FH is known to be widely underdiagnosed and undertreated.”

Researchers analyzed data from 68,565 participants among six large cohorts, with follow-up ranging across index ages from 78,985 person-years to 308,378 person-years. Participants were stratified by LDL levels at ages ranging from 20 to 79 years, as well as family history of CVD. LDL levels of at least 190 mg/dL defined those with an FH phenotype, whereas levels of less than 130 mg/dL were considered the reference group.

The researchers found that long-term CHD and atherosclerotic CVD (including stroke) risk rose by approximately fivefold among those with an FH phenotype, even after adjustment for other CHD and CVD risk factors. The findings for 30-year elevated CHD risk were particularly robust (HR = up to 5; 95% CI, 1.1-21.7). The same trend surfaced in 30-year elevated risk for atherosclerotic CVD (HR= up to 4.1; 95% CI, 1.2-13.4).

Perak told Cardiology Today that the numbers varied according to sex.

“The risk for onset of CHD was accelerated in individuals with the FH phenotype by 10 to 20 years in men, and 20 to 30 years in women,” she said in the interview.

Perak said many steps to combat the situation must be taken.

“Our findings are important for individual patient–clinician discussions about the risks of untreated FH and the potential benefits of cholesterol-lowering therapy such as statins, which are known to improve outcomes in FH,” she said. “Future research should focus on strategies for improving FH diagnosis and treatment. The Cascade Screening for Awareness and Detection of Familial Hypercholesterolemia (CASCADE-FH) is a registry study that enrolls individuals with FH directly through Web-based sign-up or lipid clinics, and ongoing work using the CASCADE-FH database is evaluating FH diagnosis and treatment patterns ... as a basis for improvement.” – by James Clark

Disclosure: The researchers report no relevant financial disclosures.