Division of Cardiovascular Medicine & Stanford Cardiovascular Institute, Stanford University School of Medicine, Stanford, CA, USA.
Department of Medicine, University of California San Francisco Fresno, Fresno, CA, USA.
Curr Atheroscler Rep. 2020 Aug 20;22(10):60. doi: 10.1007/s11883-020-00881-5.
To highlight the gender-based differences in presentation and disparities in care for women with familial hypercholesterolemia (FH).
Women with FH experience specific barriers to care including underrepresentation in research, significant underappreciation of risk, and interrupted therapy during childbearing. National and international registry and clinical trial data show significant healthcare disparities for women with FH. Women with FH are less likely to be on guideline-recommended high-intensity statin medications and those placed on statins are more likely to discontinue them within their first year. Women with FH are also less likely to be on regimens including non-statin agents such as PCSK9 inhibitors. As a result, women with FH are less likely to achieve target low-density lipoprotein cholesterol (LDL-C) targets, even those with prior atherosclerotic cardiovascular disease (ASCVD). FH is common, under-diagnosed, and under-treated. Disparities of care are more pronounced in women than men. Additionally, FH weighs differently on women throughout the course of their lives starting from choosing contraceptives as young girls along with lipid-lowering therapy, timing pregnancy, choosing breastfeeding or resumption of therapy, and finally deciding goals of care during menopause. Early identification and appropriate treatment prior to interruptions of therapy for childbearing can lead to marked reduction in morbidity and mortality. Women access care differently than men and increasing awareness among all providers, especially cardio-obstetricians, may improve diagnostic rates. Understanding the unique challenges women with FH face is crucial to close the gaps in care they experience.
目的综述：强调女性家族性高胆固醇血症（FH）患者在临床表现和护理方面的性别差异。
最新发现：女性 FH 患者面临特定的护理障碍，包括在研究中代表性不足、对风险的严重低估以及在生育期间中断治疗。国家和国际登记处和临床试验数据显示 FH 女性存在显著的医疗保健差异。FH 女性接受指南推荐的高强度他汀类药物治疗的可能性较低，而开始接受他汀类药物治疗的女性在第一年更有可能停止治疗。FH 女性接受包括非他汀类药物（如 PCSK9 抑制剂）在内的治疗方案的可能性也较低。因此，FH 女性达到目标低密度脂蛋白胆固醇（LDL-C）目标的可能性较低，即使是那些有先前动脉粥样硬化性心血管疾病（ASCVD）的患者。FH 很常见，但诊断不足且治疗不足。与男性相比，女性的护理差异更为明显。此外，FH 对女性的影响贯穿其一生，从年轻女孩选择避孕药到降脂治疗、妊娠时机、选择母乳喂养或恢复治疗，最后是在绝经期决定护理目标。在因生育而中断治疗之前进行早期识别和适当治疗，可以显著降低发病率和死亡率。女性接受治疗的方式与男性不同，提高所有提供者（尤其是心脏产科医生）的认识，可能会提高诊断率。了解 FH 女性所面临的独特挑战对于缩小她们所经历的护理差距至关重要。
