• Internal medicine · Oct 2024

    Case Reports

    A Family with Familial Hypobetalipoproteinemia Caused by a c.1468C>T in APOB.

    • Hayato Tada, Nobuko Kojima, Akihiro Nomura, and Masayuki Takamura.
    • Department of Cardiology, Kanazawa University Graduate School of Medicine, Japan.
    • Intern. Med. 2024 Oct 1; 63 (19): 263726402637-2640.

    AbstractWe herein report the first family of Japanese individuals with familial hypobetalipoproteinemia caused by the c.1468C>T mutation in apolipoprotein B (APOB). A 13-year-old boy with extremely low levels of low-density lipoprotein (LDL) cholesterol (24 mg/dL) was referred to our hospital. The patient had no secondary causes of hypobetalipoproteinemia. His father and grandmother also exhibited low LDL cholesterol levels. A genetic analysis confirmed that they all had this variant in APOB (c.1468C>T). None of the patients exhibited atherosclerotic cardiovascular diseases or any other complications associated with low LDL cholesterol levels, including fatty liver, neurocognitive disorders, and cerebral hemorrhaging.

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