A Healthy Family of Familial Hypobetalipoproteinemia Caused by a Protein-truncating Variant in the PCSK9 Gene

被引：6
作者：
Tada, Hayato [1 ]
Okada, Hirofumi [1 ]
Nomura, Akihiro [1 ]
Nohara, Atsushi [1 ]
Takamura, Masayuki [1 ]
Kawashiri, Masa-aki [1 ]
机构：
[1] Kanazawa Univ, Dept Cardiol, Grad Sch Med, Kanazawa, Ishikawa, Japan
来源：
INTERNAL MEDICINE | 2020年 / 59卷 / 06期
关键词：
FHBL; PCSK9; LDL cholesterol; APO-B; MUTATIONS; ABETALIPOPROTEINEMIA; HYPERCHOLESTEROLEMIA; EFFICACY; SAFETY; MTTP;
D O I：
10.2169/internalmedicine.3737-19
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
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.
引用
收藏
页码：783 / 787
页数：5
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