A Healthy Family of Familial Hypobetalipoproteinemia Caused by a Protein-truncating Variant in the PCSK9 Gene
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- Tada Hayato
- Department of Cardiology, Kanazawa University Graduate School of Medicine, Japan
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- Okada Hirofumi
- Department of Cardiology, Kanazawa University Graduate School of Medicine, Japan
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- Nomura Akihiro
- Department of Cardiology, Kanazawa University Graduate School of Medicine, Japan
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- Nohara Atsushi
- Department of Cardiology, Kanazawa University Graduate School of Medicine, Japan
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- Takamura Masayuki
- Department of Cardiology, Kanazawa University Graduate School of Medicine, Japan
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- Kawashiri Masa-aki
- Department of Cardiology, Kanazawa University Graduate School of Medicine, Japan
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Abstract
<p>We present the first case of a Japanese patient with familial hypobetalipoproteinemia (FHBL) caused by a protein-truncating variant in the proprotein convertase subtilisin/kexin type 9 (PCSK9) gene. A 34-year-old woman was referred to our hospital due to her low low-density lipoprotein (LDL)-cholesterolemia (34 mg/dL). She did not have any secondary causes of hypobetalipoproteinemia. Her father and her younger sister also exhibited low LDL cholesterol levels. We identified a protein-truncating variant in the PCSK9 gene (c.1090_1091del/p.Pro364ArgfsTer62) among them. None of them exhibited atherosclerotic cardiovascular diseases nor any other complications associated with low LDL cholesterol, including fatty liver, neurocognitive disorders, or cerebral hemorrhaging. </p>
Journal
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- Internal Medicine
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Internal Medicine 59 (6), 783-787, 2020-03-15
The Japanese Society of Internal Medicine