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日本 LDLR 蛋白截断变异和 PCSK9 变异家族性高胆固醇血症病例，无明显动脉粥样硬化但表现出显著的跟腱增厚。

A Japanese Case of Familial Hypercholesterolemia with a Protein-truncating Variant in LDLR and a PCSK9 Variant without Significant Atherosclerosis but Showing Remarkable Achilles Tendon Thickening.

机构信息

Graduate School of Medicine, Chiba University Endocrine Metabolism/Hematology/Geriatric Medicine, Japan.

Graduate School of Medicine, Kanazawa University Cardiovascular Medicine, Japan.

出版信息

Intern Med. 2024;63(15):2137-2142. doi: 10.2169/internalmedicine.2726-23. Epub 2024 Aug 1.

DOI:10.2169/internalmedicine.2726-23
PMID:39085092
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11358726/
Abstract

The patient was a 54-year-old woman with familial hypercholesterolemia and remarkable Achilles tendon thickening. At 20 years old, the patient had a total cholesterol level of approximately 300 mg/dL. She started receiving rosuvastatin (5 mg/day) for low-density lipoprotein cholesterol (LDL-C) 235 mg/dL at 42 years old, which was increased to 10 mg/day at 54 years old, decreasing her serum LDL-C level to approximately 90 mg/dL. The serum Lp (a) level was 9 mg/dL. A computed tomography coronary angiogram showed no significant stenosis. Next-generation sequencing revealed a frameshift variant in LDL receptor (LDLR) (heterozygous) and a missense variant in proprotein convertase subtilisin/kaxin type 9 (PCSK9) (heterozygous). Continued statin therapy, in addition to low Lp (a) and female sex, can help prevent cardiovascular disease.

摘要

患者为 54 岁女性，有家族性高胆固醇血症，跟腱显著增厚。20 岁时，患者的总胆固醇水平约为 300mg/dL。42 岁时，患者因低密度脂蛋白胆固醇（LDL-C）235mg/dL 开始接受瑞舒伐他汀（5mg/天）治疗，54 岁时增至 10mg/天，使血清 LDL-C 水平降至约 90mg/dL。血清脂蛋白（a）水平为 9mg/dL。计算机断层冠状动脉造影显示无明显狭窄。下一代测序显示 LDL 受体（LDLR）（杂合子）出现框移变异和前蛋白转化酶枯草溶菌素/ kexin 9 型（PCSK9）（杂合子）出现错义变异。持续他汀类药物治疗，加上低脂蛋白（a）和女性性别，有助于预防心血管疾病。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/418d/11358726/bc4354dab96e/1349-7235-63-2137-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/418d/11358726/96d22db6caf7/1349-7235-63-2137-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/418d/11358726/53b8caaaa443/1349-7235-63-2137-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/418d/11358726/18083d5530a6/1349-7235-63-2137-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/418d/11358726/bc4354dab96e/1349-7235-63-2137-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/418d/11358726/96d22db6caf7/1349-7235-63-2137-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/418d/11358726/53b8caaaa443/1349-7235-63-2137-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/418d/11358726/18083d5530a6/1349-7235-63-2137-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/418d/11358726/bc4354dab96e/1349-7235-63-2137-g004.jpg

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