American Society for Preventive Cardiology
American Society for Preventive Cardiology
July 31, 2018
2 min read

Testing, early treatment key in familial hypercholesterolemia

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Christie M. Ballantyne, MD
Christie M. Ballantyne

SANTA ANA PUEBLO, N.M. — Proper identification of patients with familial hypercholesterolemia in addition to consistency with treatment and clinical procedures may benefit patients with this condition, according to a presentation at the American Society for Preventive Cardiology Congress on CVD.

Data from the CASCADE FH registry is informative, as the levels of treated LDL is suboptimal for patients with heterozygous familial hypercholesterolemia (FH). Adults have a treated LDL of 141 mg/dL and children have levels of 172 mg/dL.

“Unfortunately, there’s still lots of premature heart disease, over half the people aged less than 65 years, which is much more than the general population,” Christie M. Ballantyne, MD, professor of medicine and chief of the sections of cardiology and cardiovascular research at Baylor College of Medicine, said in the presentation.

LDL levels in black and Asian populations are not as well treated compared with other populations due to gaps in care, according to the presentation. Women with heterozygous FH are undertreated and may have statin intolerance or less statin usage, which contributes to higher levels of LDL, Ballantyne said.

CASCADE FH continues to accumulate data with ongoing longitudinal follow-up. According to Ballantyne, a concerning aspect of the registry is that the average age for statin initiation is 39 years.

“One of the issues that comes up is we certainly can do a lot better … early-onset treatment is really the key for this disorder,” Ballantyne said.

The event rate in patients with heterozygous FH is roughly 4% for year, whereas it is 17% per year in those with homozygous FH.

“The goal of the [FH Foundation] is not just to look at this, but by bringing people together and getting the centers working in the country to improve awareness, but it’s also to help identify individuals.”

The FIND FH initiative uses machine learning algorithms on 221 million Americans from claims and medical databases to identify over 1 million patients with probable FH.

“There’s a lot of progress that has been made over the past several years with this,” Ballantyne said.

Another problematic area for these patients is access to non-statin lipid-lowering therapies in patients who have an increased risk for atherosclerotic CVD, Ballantyne said, noting that many had had coverage for these therapies denied by insurers.

“This is something that doesn’t really fit in with the expectations with it and it’s something that needs to be worked at,” Ballantyne said.

Based on recent data from ODYSSEY OUTCOMES, patients with a recent ACS and LDLs over 100 mg/dL had a reduction in mortality during a 3-year period.

“One of the hopes is that organizations like the FH Foundation and also like ASPC by coming up with reasonable suggestions to insurers would improve uniformity in terms of … filling out prior [authorizations] so everybody’s looking at the same criteria,” Ballantyne said.

Genetic testing is not required, but is simple enough to perform on patients, according to the presentation.

“This is a case where we should be sensitive because we already know we’re doing a terrible job,” Ballantyne said. “Rather than being highly specific in missing half of the individuals as people don’t have xanthomas the way they used to, it makes much more sense to be sensitive and have a wider net.” – by Darlene Dobkowski


Ballantyne CM. Update on FH and the FIND FH Initiative. Presented at: American Society for Preventive Cardiology Congress on CVD; July 27-29, 2018; Santa Ana Pueblo, New Mexico.

Disclosure: Ballantyne reports he received grant/research support that was paid to his institution from Akcea, Amarin, Amgen, Esperion, Novartis, Regeneron and Sanofi-Synthelabo and consulted for Akcea, Amarin, Amgen, AstraZeneca, Denka Seiken, Eli Lilly, Esperion, Matinas BioPharma, Merck, Novartis, Regeneron and Sanofi-Synthelabo.