家庭高胆固醇高血症与高甘油三:一个诊断挑战
Suha Ahmed1,2, Marwa Elgizouli1, Eric S Kilpatrick1,3
1Manchester University Foundation Trust, Manchester, UK.
Annals of clinical biochemistry
|October 10, 2024
概括
混合性高脂血症,通常是次要的,可以掩盖家族性高胆固醇血症 (FH). 直接的LDL-C测量对于在患有高甘油三和胆固醇的患者中诊断FH至关重要.
科学领域:
- 心脏病学 心脏病学
- 遗传学 是一个遗传学.
- 代谢障碍 代谢障碍 代谢障碍
背景情况:
- 综合性或混合性高脂血症涉及高胆固醇和甘油三水平,影响约1%的英国人口.
- 它通常是代谢综合征,糖尿病或酒精使用的次要症状,也可能表明主要疾病,如家族结合性高脂血症 (FCH) 或III型高脂血症.
- 一个关键的差异诊断是家族性高胆固醇血症 (FH) 与其他原因的同时存在的高甘油三血症.
研究的目的:
- 报告遗传确认的家族性高胆固醇血症 (FH) 病例,最初呈现出高甘油三血症.
- 讨论在存在高甘油三血症时识别FH的诊断挑战.
- 在这种情况下,强调直接测量LDL-C对于准确的FH诊断的重要性.
主要方法:
- 病例系列报告了四名遗传确认家族高胆固醇血症 (FH) 的患者.
- 患者最初呈现混合性高脂血症,包括高甘油三水平.
- 诊断方法包括基因检测和低密度脂蛋白胆固醇 (LDL-C) 的直接测量.
主要成果:
- 在初始呈现过高甘油三血症的患者中发现了四例家族性高胆固醇血症 (FH).
- 这些患者表现出高总胆固醇和LDL-C度以及中度升高的甘油三.
- 在所有报告的病例中,基因检测证实了FH诊断.
结论:
- 家庭性高胆固醇血症 (FH) 可以被同时发生的高甘油三血症掩盖,这给诊断带来了挑战.
- 直接测量LDL-C对于混合多脂血症患者的准确诊断至关重要.
- 早期和准确的FH诊断对于及时干预和管理至关重要.
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