Highlights
- •A case of familial dysbetalipoproteinemia presented with severe hyperlipidemia.
- •No obvious clinical or laboratory secondary stimulus for elevated lipids was found.
- •Genetic analysis found APOE E2/E2 and high polygenic risk scores for lipid traits.
- •Statin intolerance led to successful treatment with ezetimibe and evolocumab.
Abstract
We present a 37-year-old man diagnosed with familial dysbetalipoproteinemia who presented
with the severe hyperlipidemic phenotype. None of the usual metabolic triggers were
found to explain his severe lipid abnormalities. Genetic analysis revealed the expected
APOE E2/E2 genotype, but no other mutations were found to explain any monogenic dyslipidemia
or syndrome. Polygenic risk scores for quantitative lipid traits did reveal scores
placing the patient in the >99th percentile for the general population concerning
polygenic susceptibility for both high cholesterol and triglycerides. Owing to his
gastrointestinal intolerance to two high-intensity statins, he was treated with both
ezetimibe 10 mg a day and evolocumab 140 mg subcutaneously every 2 weeks. All measures
of potentially atherogenic lipids were markedly improved and remained so for more
than 10 months of follow-up. This case report shows an unusual trigger for severe
hyperlipidemia with familial dysbetalipoproteinemia and a favorable therapeutic response
to the combination of ezetimibe and evolocumab.
Keywords
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Article info
Publication history
Published online: March 06, 2019
Accepted:
February 25,
2019
Received:
August 30,
2018
Footnotes
Conflicts of interest: RAH reports consulting fees from Acasti, Aegerion, Akcea/Ionis, Amgen, and Sanofi. APM reports advisory board with Regeneron and Aegerion.
Authors' contributions statement: Dr Morise saw and evaluated the case and did all the case description and most of the discussion. Dr Hegele performed the genetic testing in his laboratory and reviewed and edited the article. Both authors have approved the final article.
Identification
Copyright
© 2019 National Lipid Association. All rights reserved.
