ArticleInternal medicine (Tokyo, Japan)2025
Oligogenic Familial Hypercholesterolemia Treated by Combination Therapy of Statin, Ezetimibe, PCSK9 Inhibitor, and Lomitapide.
Article in Internal medicine (Tokyo, Japan), 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
We encountered a 40-year-old man diagnosed with homozygous familial hypercholesterolemia (FH) based on clinical findings. The initial low-density lipoprotein (LDL)-cholesterol level was 393 mg/dL. He underwent coronary artery bypass graft (CABG) surgery for three-vessel disease. Genetic testing revealed a pathogenic variant in the LDL receptor (LDLR) and a missense variant in apolipoprotein E (APOE), known as APOE4, leading to the diagnosis of oligogenic FH. His LDL-cholesterol level was well controlled by the introduction of a proprotein convertase subtilisin/kexin type 9 (PCSK9) inhibitor and lomitapide (approximately 30 mg/dL). Combination therapy is effective in reducing LDL levels.
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