Department of Endocrinology, Metabolism, Hematology and Geriatrics, Chiba University Graduate School of Medicine, 1-8-1, Inohana, Chuo-ku, Chiba City, Chiba 260-0856, Japan.
Department of Endocrinology, Metabolism, Hematology and Geriatrics, Chiba University Graduate School of Medicine, 1-8-1, Inohana, Chuo-ku, Chiba City, Chiba 260-0856, Japan.
Clin Biochem. 2022 Oct;108:42-45. doi: 10.1016/j.clinbiochem.2022.07.001. Epub 2022 Jul 9.
The prevalence of familial lipoprotein lipase deficiency (LPLD) is approximately one in 1,000,000 in the general population. There are conflicting reports on whether or not LPLD is atherogenic. We conducted coronary computed tomographic (CT) angiography on two patients in their 70 s who had genetically confirmed LPLD. Patient 1 was a 73 year old woman with a body mass index (BMI) of 27.5 kg/m, no history of diabetes mellitus and no history of drinking alcohol or smoking. At the time of her first visit, her serum total cholesterol, triglycerides and high-density lipoprotein cholesterol levels were 4.8 mmol/L, 17.3 mmol/L, and 0.5 mmol/L, respectively. She was treated with a lipid-restricted diet and fibrate but her serum TG levels remained extremely high. Next-generation sequencing analysis revealed a missense mutation (homo) in the LPL gene, c.662T>C (p. Ile221Thr), leading to the diagnosis of homozygous familial LPL deficiency (LPLD). Patient 2 was another 73- year- old woman. She also had marked hypertriglyceridemia with no history of diabetes mellitus, drinking alcohol, or smoking. Previous genetic studies showed she had a nonsense mutation (homozygous) in the LPL gene, c.1277G>A (p.Trp409Ter). To clarify the degree of coronary artery stenosis in these two cases, we conducted coronary CT angiography and found that no coronary artery stenosis in either the right or left coronary arteries. Based on the findings in these two elderly women along with previous reports on patients in their 60 s with LPLD and hypertriglyceridemia, we suggest that LPLD may not be associated with the development or progression of coronary artery disease.
家族性脂蛋白脂肪酶缺乏症（LPLD）的患病率在普通人群中约为 1/100 万。关于 LPLD 是否具有动脉粥样硬化性尚有争议。我们对两名 70 多岁经基因证实患有 LPLD 的患者进行了冠状动脉计算机断层扫描（CT）血管造影。患者 1 为 73 岁女性，体重指数（BMI）为 27.5kg/m，无糖尿病史，无饮酒或吸烟史。初诊时，其血清总胆固醇、甘油三酯和高密度脂蛋白胆固醇水平分别为 4.8mmol/L、17.3mmol/L 和 0.5mmol/L。她接受了低脂饮食和贝特类药物治疗，但血清 TG 水平仍极高。下一代测序分析显示 LPL 基因发生错义突变（纯合），c.662T>C（p.Ile221Thr），导致纯合家族性 LPL 缺乏症（LPLD）的诊断。患者 2 为另一位 73 岁女性。她也有明显的高甘油三酯血症，无糖尿病、饮酒或吸烟史。先前的基因研究表明，她的 LPL 基因发生无义突变（纯合），c.1277G>A（p.Trp409Ter）。为明确这两例患者的冠状动脉狭窄程度，我们进行了冠状动脉 CT 血管造影，发现右冠状动脉和左冠状动脉均无冠状动脉狭窄。基于这两名老年女性的发现以及先前报道的 60 多岁 LPLD 和高甘油三酯血症患者的报告，我们认为 LPLD 可能与冠状动脉疾病的发展或进展无关。
