病例报告:打败假设的预后:同卵性家族高胆固醇血症与意想不到的长期存活率
Lukáš Zlatohlávek1, Jana Becherová Beňová1, Tereza Foglarová1
13rd Department of Internal Medicine, Department of Endocrinology and Metabolism, 1st Faculty of Medicine, General University Hospital, Charles University, Prague, Czech Republic.
Frontiers in cardiovascular medicine
|November 5, 2025
概括
家族性高胆固醇血症 (FH) 是一种导致高LDL-C的遗传疾病.非典型的同卵性FH病例表现出较轻微的症状和延迟诊断,突出了个性化治疗策略的需要.
科学领域:
- 遗传学 是一个遗传学.
- 心脏病学 心脏病学
- 代谢障碍 代谢障碍 代谢障碍
背景情况:
- 家族性高胆固醇血症 (FH) 是一种常见的遗传性疾病,大约影响310人中的1人.
- FH的特点是低密度脂蛋白胆固醇 (LDL-C) 的升高和早期动脉样硬化心血管疾病 (ASCVD) 的高风险.
- 同胞性FH (HoFH) 较为罕见,表现出显著的表型变异性.
研究的目的:
- 报告三例异型同卵性家族高胆固醇血症 (HoFH) 的病例.
- 突出临床异质性和挑战关于HoFH严重性的假设.
- 强调个性化治疗对HoFH患者的重要性.
主要方法:
- 三名患有HoFH的患者的病例报告.
- 鉴定特定变异的基因分析 (例如,c.1775G>A,c.340T>A,c.761A>C,c.910G>A).
- 对表型,诊断时间和心血管结果的临床评估.
主要成果:
- 一名患者是c.1775G>A (p.Gly592Glu) 变种的同位素.
- 两名患者是复合异构体,具有明显的遗传变异.
- 所有患者呈现出轻度的临床表型,延迟诊断,没有早期发病的ASCVD.
结论:
- 这些病例显示了HoFH的显著临床异质性.
- 高高血压并不总是导致严重的心血管结果.
- 个性化治疗策略对于改善HoFH患者的治疗结果和生活质量至关重要.
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