• Internal medicine · Jan 2024

    Case Reports

    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.

    • Takuya Minamizuka, Junji Kobayashi, Hayato Tada, Masaya Koshizaka, Yoshiro Maezawa, Hiraku Ono, and Koutaro Yokote.
    • Graduate School of Medicine, Chiba University Endocrine Metabolism/Hematology/Geriatric Medicine, Japan.
    • Intern. Med. 2024 Jan 1; 63 (15): 213721422137-2142.

    AbstractThe 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.

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