Journal
INTERNAL MEDICINE
Volume 59, Issue 6, Pages 783-787Publisher
JAPAN SOC INTERNAL MEDICINE
DOI: 10.2169/internalmedicine.3737-19
Keywords
FHBL; PCSK9; LDL cholesterol
Categories
Funding
- Ministry of Education, Science, and Culture of Japan [19K08575]
- Grants-in-Aid for Scientific Research [19K08575] Funding Source: KAKEN
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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.
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